{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T19:26:56Z","timestamp":1790105216714,"version":"4.0.1"},"reference-count":122,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2010,1,12]],"date-time":"2010-01-12T00:00:00Z","timestamp":1263254400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1007\/s00439-009-0778-7","type":"journal-article","created":{"date-parts":[[2010,1,11]],"date-time":"2010-01-11T08:38:26Z","timestamp":1263199106000},"page":"421-440","source":"Crossref","is-referenced-by-count":62,"title":["Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE"],"prefix":"10.1007","volume":"127","author":[{"given":"Jill A.","family":"Rosenfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blake C.","family":"Ballif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur S.","family":"Aylsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassem A.","family":"Bejjani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth S.","family":"Torchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,1,12]]},"reference":[{"key":"778_CR1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s00439-002-0862-8","volume":"112","author":"C Aguilella","year":"2003","unstructured":"Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V (2003) Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet 112:131\u2013134","journal-title":"Hum Genet"},{"key":"778_CR2","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ajmg.a.30808","volume":"136","author":"Y Alanay","year":"2005","unstructured":"Alanay Y, Aktas D, Utine E, Talim B, Onderoglu L, Caglar M, Tuncbilek E (2005) Is Dandy\u2013Walker malformation associated with \u201cdistal 13q deletion syndrome\u201d? Findings in a fetus supporting previous observations. Am J Med Genet A 136:265\u2013268","journal-title":"Am J Med Genet A"},{"key":"778_CR3","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","volume":"83","author":"F Ariani","year":"2008","unstructured":"Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83:89\u201393","journal-title":"Am J Hum Genet"},{"key":"778_CR4","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1038\/35001072","volume":"403","author":"D Bachiller","year":"2000","unstructured":"Bachiller D, Klingensmith J, Kemp C, Belo JA, Anderson RM, May SR, McMahon JA, McMahon AP, Harland RM, Rossant J, De Robertis EM (2000) The organizer factors Chordin and Noggin are required for mouse forebrain development. Nature 403:658\u2013661","journal-title":"Nature"},{"key":"778_CR5","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.ajhg.2007.09.023","volume":"82","author":"P Bakrania","year":"2008","unstructured":"Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304\u2013319","journal-title":"Am J Hum Genet"},{"key":"778_CR6","doi-asserted-by":"crossref","first-page":"283","DOI":"10.24953\/turkjped.2004.2820","volume":"46","author":"S Balci","year":"2004","unstructured":"Balci S, Teksen F, Dokmeci F, Cengiz B, Comert RB, Can B, Ozdamar S (2004) Prenatal diagnosis of Meckel-Gruber syndrome and Dandy\u2013Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22\u00a0weeks of gestation. Turk J Pediatr 46:283\u2013288","journal-title":"Turk J Pediatr"},{"key":"778_CR7","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1755-8166-1-8","volume":"1","author":"BC Ballif","year":"2008","unstructured":"Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG (2008a) Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1:8","journal-title":"Mol Cytogenet"},{"key":"778_CR8","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1111\/j.1399-0004.2008.01094.x","volume":"74","author":"BC Ballif","year":"2008","unstructured":"Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG (2008b) Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 74:469\u2013475","journal-title":"Clin Genet"},{"key":"778_CR9","doi-asserted-by":"crossref","first-page":"2523","DOI":"10.1002\/ajmg.a.31988","volume":"143A","author":"HN Baris","year":"2007","unstructured":"Baris HN, Tan WH, Kimonis VE, Irons MB (2007) Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A 143A:2523\u20132533","journal-title":"Am J Med Genet A"},{"key":"778_CR10","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/ajmg.10587","volume":"112","author":"M Barr Jr","year":"2002","unstructured":"Barr M Jr, Cohen MM Jr (2002) Autosomal recessive alobar holoprosencephaly with essentially normal faces. Am J Med Genet 112:28\u201330","journal-title":"Am J Med Genet"},{"key":"778_CR11","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0022-3476(83)80185-1","volume":"102","author":"M Barr Jr","year":"1983","unstructured":"Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN (1983) Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565\u2013568","journal-title":"J Pediatr"},{"key":"778_CR12","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ajmg.a.30621","volume":"134","author":"BA Bejjani","year":"2005","unstructured":"Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG (2005) Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 134:259\u2013267","journal-title":"Am J Med Genet A"},{"key":"778_CR13","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1196-353","volume":"14","author":"E Belloni","year":"1996","unstructured":"Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353\u2013356","journal-title":"Nat Genet"},{"key":"778_CR14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-005-0097-6","volume":"119","author":"C Bendavid","year":"2006","unstructured":"Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frebourg T, Haddad BR, Henry C, Odent S, David V (2006a) Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet 119:1\u20138","journal-title":"Hum Genet"},{"key":"778_CR15","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/jmg.2005.037176","volume":"43","author":"C Bendavid","year":"2006","unstructured":"Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M (2006b) Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet 43:496\u2013500","journal-title":"J Med Genet"},{"key":"778_CR16","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1002\/humu.20594","volume":"28","author":"C Bendavid","year":"2007","unstructured":"Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, David V (2007) MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly. Hum Mutat 28:1189\u20131197","journal-title":"Hum Mutat"},{"key":"778_CR17","doi-asserted-by":"crossref","first-page":"19320","DOI":"10.1074\/jbc.M513203200","volume":"281","author":"N Bhatia","year":"2006","unstructured":"Bhatia N, Thiyagarajan S, Elcheva I, Saleem M, Dlugosz A, Mukhtar H, Spiegelman VS (2006) Gli2 is targeted for ubiquitination and degradation by beta-TrCP ubiquitin ligase. J Biol Chem 281:19320\u201319326","journal-title":"J Biol Chem"},{"key":"778_CR18","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1093\/hmg\/11.8.971","volume":"11","author":"GJ Breedveld","year":"2002","unstructured":"Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Gruters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P (2002) Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11:971\u2013979","journal-title":"Hum Mol Genet"},{"key":"778_CR19","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/2484","volume":"20","author":"SA Brown","year":"1998","unstructured":"Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M (1998) Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 20:180\u2013183","journal-title":"Nat Genet"},{"key":"778_CR20","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/jcb.21255","volume":"101","author":"KA Brown","year":"2007","unstructured":"Brown KA, Pietenpol JA, Moses HL (2007) A tale of two proteins: differential roles and regulation of Smad2 and Smad3 in TGF-beta signaling. J Cell Biochem 101:9\u201333","journal-title":"J Cell Biochem"},{"key":"778_CR21","doi-asserted-by":"crossref","first-page":"3251","DOI":"10.1097\/00001756-199710200-00013","volume":"8","author":"J Brownlees","year":"1997","unstructured":"Brownlees J, Irving NG, Brion JP, Gibb BJ, Wagner U, Woodgett J, Miller CC (1997) Tau phosphorylation in transgenic mice expressing glycogen synthase kinase-3beta transgenes. Neuroreport 8:3251\u20133255","journal-title":"Neuroreport"},{"key":"778_CR22","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S0092-8674(00)81677-3","volume":"99","author":"R Burke","year":"1999","unstructured":"Burke R, Nellen D, Bellotto M, Hafen E, Senti KA, Dickson BJ, Basler K (1999) Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells. Cell 99:803\u2013815","journal-title":"Cell"},{"key":"778_CR23","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00234-003-1110-1","volume":"46","author":"PA Caruso","year":"2004","unstructured":"Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB (2004) MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology 46:3\u201314","journal-title":"Neuroradiology"},{"key":"778_CR24","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/ajmg.a.30156","volume":"130A","author":"KA Casas","year":"2004","unstructured":"Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE (2004) Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A 130A:331\u2013339","journal-title":"Am J Med Genet A"},{"key":"778_CR25","doi-asserted-by":"crossref","first-page":"16520","DOI":"10.1073\/pnas.0603533103","volume":"103","author":"L Chen","year":"2006","unstructured":"Chen L, Liao G, Yang L, Campbell K, Nakafuku M, Kuan CY, Zheng Y (2006) Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly. Proc Natl Acad Sci USA 103:16520\u201316525","journal-title":"Proc Natl Acad Sci USA"},{"key":"778_CR26","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/j.1399-0004.1983.tb02226.x","volume":"24","author":"P Chieri","year":"1983","unstructured":"Chieri P, Iolster N (1983) Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23). Clin Genet 24:147\u2013150","journal-title":"Clin Genet"},{"key":"778_CR27","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/17611","volume":"397","author":"PT Chuang","year":"1999","unstructured":"Chuang PT, McMahon AP (1999) Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein. Nature 397:617\u2013621","journal-title":"Nature"},{"key":"778_CR28","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/tera.1420400304","volume":"40","author":"MM Cohen Jr","year":"1989","unstructured":"Cohen MM Jr (1989a) Perspectives on holoprosencephaly: part I. Epidemiology, genetics, and syndromology. Teratology 40:211\u2013235","journal-title":"Teratology"},{"key":"778_CR29","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/ajmg.1320340232","volume":"34","author":"MM Cohen Jr","year":"1989","unstructured":"Cohen MM Jr (1989b) Perspectives on holoprosencephaly: part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271\u2013288","journal-title":"Am J Med Genet"},{"key":"778_CR30","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1002\/bdra.20295","volume":"76","author":"MM Cohen Jr","year":"2006","unstructured":"Cohen MM Jr (2006) Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 76:658\u2013673","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"778_CR31","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1399-0004.2007.00936.x","volume":"73","author":"RP Cotarelo","year":"2008","unstructured":"Cotarelo RP, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J (2008) Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet 73:139\u2013145","journal-title":"Clin Genet"},{"key":"778_CR32","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O","volume":"64","author":"LA Croen","year":"1996","unstructured":"Croen LA, Shaw GM, Lammer EJ (1996) Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 64:465\u2013472","journal-title":"Am J Med Genet"},{"key":"778_CR33","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-002-0709-3","volume":"110","author":"JM la Cruz de","year":"2002","unstructured":"de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M (2002) A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet 110:422\u2013428","journal-title":"Hum Genet"},{"key":"778_CR34","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nature02292","volume":"427","author":"F Del Bene","year":"2004","unstructured":"Del Bene F, Tessmar-Raible K, Wittbrodt J (2004) Direct interaction of geminin and Six3 in eye development. Nature 427:745\u2013749","journal-title":"Nature"},{"key":"778_CR35","first-page":"431","volume-title":"Congenital malformations of the brain and skull: part I","author":"W Demyer","year":"1977","unstructured":"Demyer W (1977) Holoprosencephaly (Cyclopia-arhinencephaly). In: Vinken PJ, Bruyn GW, Myrianthopoulos NC (eds) Congenital malformations of the brain and skull: part I, vol 30. North-Holland, Amsterdam, pp 431\u2013478"},{"key":"778_CR36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000104278","volume":"23","author":"W Demyer","year":"1963","unstructured":"Demyer W, Zeman W (1963) Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol 23:1\u201336","journal-title":"Confin Neurol"},{"key":"778_CR37","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1542\/peds.34.2.256","volume":"34","author":"W Demyer","year":"1964","unstructured":"Demyer W, Zeman W, Palmer CG (1964) The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (Arhinencephaly). Pediatrics 34:256\u2013263","journal-title":"Pediatrics"},{"key":"778_CR38","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1136\/jmg.35.7.612","volume":"35","author":"K Devriendt","year":"1998","unstructured":"Devriendt K, Fryns JP, Chen CP (1998) Holoprosencephaly in deletions of proximal chromosome 14q. J Med Genet 35:612","journal-title":"J Med Genet"},{"key":"778_CR39","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/humu.20056","volume":"24","author":"C Dubourg","year":"2004","unstructured":"Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V (2004) Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype\u2013phenotype correlations. Hum Mutat 24:43\u201351","journal-title":"Hum Mutat"},{"key":"778_CR40","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-2-8","volume":"2","author":"C Dubourg","year":"2007","unstructured":"Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V (2007) Holoprosencephaly. Orphanet J Rare Dis 2:8","journal-title":"Orphanet J Rare Dis"},{"key":"778_CR41","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1172\/JCI34538","volume":"118","author":"J Falardeau","year":"2008","unstructured":"Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest 118:2822\u20132831","journal-title":"J Clin Invest"},{"key":"778_CR42","doi-asserted-by":"crossref","first-page":"11952","DOI":"10.1073\/pnas.0601931103","volume":"103","author":"ME Forsythe","year":"2006","unstructured":"Forsythe ME, Love DC, Lazarus BD, Kim EJ, Prinz WA, Ashwell G, Krause MW, Hanover JA (2006) Caenorhabditis elegans ortholog of a diabetes susceptibility locus: oga-1 (O-GlcNAcase) knockout impacts O-GlcNAc cycling, metabolism, and dauer. Proc Natl Acad Sci USA 103:11952\u201311957","journal-title":"Proc Natl Acad Sci USA"},{"key":"778_CR43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3590001","volume":"359","author":"S Frame","year":"2001","unstructured":"Frame S, Cohen P (2001) GSK3 takes centre stage more than 20\u00a0years after its discovery. Biochem J 359:1\u201316","journal-title":"Biochem J"},{"key":"778_CR44","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1177\/0883073808314150","volume":"23","author":"C Galasso","year":"2008","unstructured":"Galasso C, Lo-Castro A, Lalli C, Nardone AM, Gullotta F, Curatolo P (2008) Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism. J Child Neurol 23:802\u2013806","journal-title":"J Child Neurol"},{"key":"778_CR45","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.ejmg.2005.07.002","volume":"49","author":"U Gamerdinger","year":"2006","unstructured":"Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H (2006) First report of a partial trisomy 3q12-q23 de novo\u2013FISH breakpoint determination and phenotypic characterization. Eur J Med Genet 49:225\u2013234","journal-title":"Eur J Med Genet"},{"key":"778_CR46","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.devcel.2008.07.003","volume":"15","author":"X Geng","year":"2008","unstructured":"Geng X, Speirs C, Lagutin O, Inbal A, Liu W, Solnica-Krezel L, Jeong Y, Epstein DJ, Oliver G (2008) Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly. Dev Cell 15:236\u2013247","journal-title":"Dev Cell"},{"key":"778_CR47","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/76074","volume":"25","author":"KW Gripp","year":"2000","unstructured":"Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge SJ (2000) Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 25:205\u2013208","journal-title":"Nat Genet"},{"key":"778_CR48","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.1320070110","volume":"7","author":"JG Hall","year":"1980","unstructured":"Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly\u2014a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47\u201374","journal-title":"Am J Med Genet"},{"key":"778_CR49","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.molcel.2005.01.009","volume":"17","author":"C Han","year":"2005","unstructured":"Han C, Lin X (2005) Shifted from Wnt to Hedgehog signaling pathways. Mol Cell 17:321\u2013322","journal-title":"Mol Cell"},{"key":"778_CR50","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/dneu.20576","volume":"68","author":"M Hayhurst","year":"2008","unstructured":"Hayhurst M, Gore BB, Tessier-Lavigne M, McConnell SK (2008) Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain. Dev Neurobiol 68:83\u2013100","journal-title":"Dev Neurobiol"},{"key":"778_CR51","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0896-6273(02)00751-1","volume":"35","author":"C Houart","year":"2002","unstructured":"Houart C, Caneparo L, Heisenberg C, Barth K, Take-Uchi M, Wilson S (2002) Establishment of the telencephalon during gastrulation by local antagonism of Wnt signaling. Neuron 35:255\u2013265","journal-title":"Neuron"},{"key":"778_CR52","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.gep.2008.06.001","volume":"8","author":"YA Hu","year":"2008","unstructured":"Hu YA, Gu X, Liu J, Yang Y, Yan Y, Zhao C (2008) Expression pattern of Wnt inhibitor factor 1(Wif1) during the development in mouse CNS. Gene Expr Patterns 8:515\u2013522","journal-title":"Gene Expr Patterns"},{"key":"778_CR53","doi-asserted-by":"crossref","first-page":"8917","DOI":"10.1523\/JNEUROSCI.2086-04.2004","volume":"24","author":"KJ Huffman","year":"2004","unstructured":"Huffman KJ, Garel S, Rubenstein JL (2004) Fgf8 regulates the development of intra-neocortical projections. J Neurosci 24:8917\u20138923","journal-title":"J Neurosci"},{"key":"778_CR54","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1067\/mpd.2000.107111","volume":"137","author":"N Iwatani","year":"2000","unstructured":"Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 137:272\u2013276","journal-title":"J Pediatr"},{"key":"778_CR55","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1038\/ng.230","volume":"40","author":"Y Jeong","year":"2008","unstructured":"Jeong Y, Leskow FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ (2008) Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet 40:1348\u20131353","journal-title":"Nat Genet"},{"key":"778_CR56","first-page":"357","volume":"45","author":"O Jin","year":"2001","unstructured":"Jin O, Harpal K, Ang SL, Rossant J (2001) Otx2 and HNF3beta genetically interact in anterior patterning. Int J Dev Biol 45:357\u2013365","journal-title":"Int J Dev Biol"},{"key":"778_CR57","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.ygeno.2005.01.010","volume":"85","author":"D Kamnasaran","year":"2005","unstructured":"Kamnasaran D, Chen CP, Devriendt K, Mehta L, Cox DW (2005) Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics 85:608\u2013621","journal-title":"Genomics"},{"key":"778_CR58","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1159\/000064057","volume":"97","author":"JD Karkera","year":"2002","unstructured":"Karkera JD, Izraeli S, Roessler E, Dutra A, Kirsch I, Muenke M (2002) The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. Cytogenet Genome Res 97:62\u201367","journal-title":"Cytogenet Genome Res"},{"key":"778_CR59","doi-asserted-by":"crossref","first-page":"7723","DOI":"10.1158\/0008-5472.CAN-07-6661","volume":"68","author":"K Kasai","year":"2008","unstructured":"Kasai K, Inaguma S, Yoneyama A, Yoshikawa K, Ikeda H (2008) SCL\/TAL1 interrupting locus derepresses GLI1 from the negative control of suppressor-of-fused in pancreatic cancer cell. Cancer Res 68:7723\u20137729","journal-title":"Cancer Res"},{"key":"778_CR60","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q","volume":"66","author":"RL Kelley","year":"1996","unstructured":"Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M (1996) Holoprosencephaly in RSH\/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 66:478\u2013484","journal-title":"Am J Med Genet"},{"key":"778_CR61","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.devcel.2005.09.011","volume":"9","author":"C Kimura-Yoshida","year":"2005","unstructured":"Kimura-Yoshida C, Nakano H, Okamura D, Nakao K, Yonemura S, Belo JA, Aizawa S, Matsui Y, Matsuo I (2005) Canonical Wnt signaling and its antagonist regulate anterior-posterior axis polarization by guiding cell migration in mouse visceral endoderm. Dev Cell 9:639\u2013650","journal-title":"Dev Cell"},{"key":"778_CR62","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/ajmg.a.32814","volume":"149A","author":"M Kirchhoff","year":"2009","unstructured":"Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M (2009) Phenotype and 244\u00a0k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet A 149A:894\u2013905","journal-title":"Am J Med Genet A"},{"key":"778_CR63","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1172\/JCI0214341","volume":"109","author":"H Krude","year":"2002","unstructured":"Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters A (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109:475\u2013480","journal-title":"J Clin Invest"},{"key":"778_CR64","doi-asserted-by":"crossref","unstructured":"Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domene S, Velez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Van Allen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njolstad PR, Brunner HG, Carey JC, Hehr U, Musebeck J, Wieacker PF, Polstra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M (2009) Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype, and function. J Med Genet 46:389\u2013395","DOI":"10.1136\/jmg.2008.063818"},{"key":"778_CR65","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/ajmg.a.30110","volume":"129A","author":"L Lazaro","year":"2004","unstructured":"Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintiere AT, Aguilella C, David V, Odent S (2004) Phenotypic and molecular variability of the holoprosencephalic spectrum. Am J Med Genet A 129A:21\u201324","journal-title":"Am J Med Genet A"},{"key":"778_CR66","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/ajmg.1245","volume":"100","author":"NL Lehman","year":"2001","unstructured":"Lehman NL, Zaleski DH, Sanger WG, Adickes ED (2001) Holoprosencephaly associated with an apparent isolated 2q37.1\u21922q37.3 deletion. Am J Med Genet 100:179\u2013181","journal-title":"Am J Med Genet"},{"key":"778_CR67","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/bdra.20479","volume":"82","author":"E Leoncini","year":"2008","unstructured":"Leoncini E, Baranello G, Orioli IM, Anneren G, Bakker M, Bianchi F, Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, De Vigan C, Doray B, Feldkamp ML, Gatt M, Irgens LM, Lowry RB, Maraschini A, Mc Donnell R, Morgan M, Mutchinick O, Poetzsch S, Riley M, Ritvanen A, Gnansia ER, Scarano G, Sipek A, Tenconi R, Mastroiacovo P (2008) Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations. Birth Defects Res A Clin Mol Teratol 82:585\u2013591","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"778_CR68","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/nature05557","volume":"446","author":"KJ Liu","year":"2007","unstructured":"Liu KJ, Arron JR, Stankunas K, Crabtree GR, Longaker MT (2007) Chemical rescue of cleft palate and midline defects in conditional GSK-3beta mice. Nature 446:79\u201382","journal-title":"Nature"},{"key":"778_CR69","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-3-32","volume":"3","author":"L Lo Muzio","year":"2008","unstructured":"Lo Muzio L (2008) Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 3:32","journal-title":"Orphanet J Rare Dis"},{"key":"778_CR70","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/emboj\/20.1.27","volume":"20","author":"JJ Lucas","year":"2001","unstructured":"Lucas JJ, Hernandez F, Gomez-Ramos P, Moran MA, Hen R, Avila J (2001) Decreased nuclear beta-catenin, tau hyperphosphorylation and neurodegeneration in GSK-3beta conditional transgenic mice. EMBO J 20:27\u201339","journal-title":"EMBO J"},{"key":"778_CR71","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(02)00977-7","volume":"111","author":"Y Ma","year":"2002","unstructured":"Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K, Beachy PA (2002) Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched. Cell 111:63\u201375","journal-title":"Cell"},{"key":"778_CR72","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00207032","volume":"89","author":"K Madan","year":"1992","unstructured":"Madan K, Menko FH (1992) Intrachromosomal insertions: a case report and a review. Hum Genet 89:1\u20139","journal-title":"Hum Genet"},{"key":"778_CR73","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1101\/gad.1546307","volume":"21","author":"DC Martinelli","year":"2007","unstructured":"Martinelli DC, Fan CM (2007) Gas1 extends the range of Hedgehog action by facilitating its signaling. Genes Dev 21:1231\u20131243","journal-title":"Genes Dev"},{"key":"778_CR74","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/tera.1420160304","volume":"16","author":"E Matsunaga","year":"1977","unstructured":"Matsunaga E, Shiota K (1977) Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 16:261\u2013272","journal-title":"Teratology"},{"key":"778_CR75","doi-asserted-by":"crossref","first-page":"25660","DOI":"10.1074\/jbc.M201933200","volume":"277","author":"RA McCarthy","year":"2002","unstructured":"McCarthy RA, Barth JL, Chintalapudi MR, Knaak C, Argraves WS (2002) Megalin functions as an endocytic sonic hedgehog receptor. J Biol Chem 277:25660\u201325667","journal-title":"J Biol Chem"},{"key":"778_CR76","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/ajmg.10659","volume":"112","author":"WM McCormack Jr","year":"2002","unstructured":"McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA (2002) Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy\u2013Walker malformation. Am J Med Genet 112:384\u2013389","journal-title":"Am J Med Genet"},{"key":"778_CR77","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1101\/gad.12.10.1438","volume":"12","author":"JA McMahon","year":"1998","unstructured":"McMahon JA, Takada S, Zimmerman LB, Fan CM, Harland RM, McMahon AP (1998) Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite. Genes Dev 12:1438\u20131452","journal-title":"Genes Dev"},{"key":"778_CR78","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1136\/jmg.2006.047860","volume":"44","author":"B Menten","year":"2007","unstructured":"Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G (2007) Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 44:264\u2013268","journal-title":"J Med Genet"},{"key":"778_CR79","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng0298-136","volume":"18","author":"EN Meyers","year":"1998","unstructured":"Meyers EN, Lewandoski M, Martin GR (1998) An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination. Nat Genet 18:136\u2013141","journal-title":"Nat Genet"},{"key":"778_CR80","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1086\/344412","volume":"71","author":"JE Ming","year":"2002","unstructured":"Ming JE, Muenke M (2002) Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 71:1017\u20131032","journal-title":"Am J Hum Genet"},{"key":"778_CR81","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s00439-002-0695-5","volume":"110","author":"JE Ming","year":"2002","unstructured":"Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M (2002) Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 110:297\u2013301","journal-title":"Hum Genet"},{"key":"778_CR82","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/S1097-2765(01)00223-4","volume":"7","author":"A Monsoro-Burq","year":"2001","unstructured":"Monsoro-Burq A, Le Douarin NM (2001) BMP4 plays a key role in left\u2013right patterning in chick embryos by maintaining Sonic Hedgehog asymmetry. Mol Cell 7:789\u2013799","journal-title":"Mol Cell"},{"key":"778_CR83","first-page":"6203","volume-title":"The metabolic & molecular bases of inherited disease","author":"M Muenke","year":"2001","unstructured":"Muenke M, Beachy PA (2001) Holoprosencephaly. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 6203\u20136230","edition":"8"},{"key":"778_CR84","first-page":"1074","volume":"57","author":"M Muenke","year":"1995","unstructured":"Muenke M, Bone LJ, Mitchell HF, Hart I, Walton K, Hall-Johnson K, Ippel EF, Dietz-Band J, Kvaloy K, Fan CM et al (1995) Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am J Hum Genet 57:1074\u20131079","journal-title":"Am J Hum Genet"},{"key":"778_CR85","first-page":"217","volume":"22","author":"MT Mulcahy","year":"1979","unstructured":"Mulcahy MT, Pemberton PJ, Sprague P (1979) Trisomy 3q : two clinically similar but cytogenetically different cases. Ann Genet 22:217\u2013220","journal-title":"Ann Genet"},{"key":"778_CR86","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1093\/hmg\/8.13.2479","volume":"8","author":"L Nanni","year":"1999","unstructured":"Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M (1999) The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 8:2479\u20132488","journal-title":"Hum Mol Genet"},{"key":"778_CR87","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1038\/31693","volume":"393","author":"M Nomura","year":"1998","unstructured":"Nomura M, Li E (1998) Smad2 role in mesoderm formation, left\u2013right patterning and craniofacial development. Nature 393:786\u2013790","journal-title":"Nature"},{"key":"778_CR88","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1091\/mbc.e04-11-0975","volume":"16","author":"M Novy","year":"2005","unstructured":"Novy M, Pohn R, Andorfer P, Novy-Weiland T, Galos B, Schwarzmayr L, Rotheneder H (2005) EAPP, a novel E2F binding protein that modulates E2F-dependent transcription. Mol Biol Cell 16:2181\u20132190","journal-title":"Mol Biol Cell"},{"key":"778_CR89","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<139::AID-AJMG6>3.0.CO;2-N","volume":"77","author":"S Odent","year":"1998","unstructured":"Odent S, Le Marec B, Munnich A, Le Merrer M, Bonaiti-Pellie C (1998) Segregation analysis in nonsyndromic holoprosencephaly. Am J Med Genet 77:139\u2013143","journal-title":"Am J Med Genet"},{"key":"778_CR90","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ydbio.2008.04.034","volume":"320","author":"T Okada","year":"2008","unstructured":"Okada T, Okumura Y, Motoyama J, Ogawa M (2008) FGF8 signaling patterns the telencephalic midline by regulating putative key factors of midline development. Dev Biol 320:92\u2013101","journal-title":"Dev Biol"},{"key":"778_CR91","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S","volume":"73","author":"CL Olsen","year":"1997","unstructured":"Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M (1997) Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984\u20131989. Am J Med Genet 73:217\u2013226","journal-title":"Am J Med Genet"},{"key":"778_CR92","doi-asserted-by":"crossref","first-page":"19332","DOI":"10.1074\/jbc.M100606200","volume":"276","author":"WT Parks","year":"2001","unstructured":"Parks WT, Frank DB, Huff C, Renfrew Haft C, Martin J, Meng X, de Caestecker MP, McNally JG, Reddi A, Taylor SI, Roberts AB, Wang T, Lechleider RJ (2001) Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases. J Biol Chem 276:19332\u201319339","journal-title":"J Biol Chem"},{"key":"778_CR93","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/sj.ejhg.5200540","volume":"8","author":"L Pasquier","year":"2000","unstructured":"Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S (2000) A new mutation in the six-domain of SIX3 gene causes holoprosencephaly. Eur J Hum Genet 8:797\u2013800","journal-title":"Eur J Hum Genet"},{"key":"778_CR94","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1136\/jmg.40.4.e47","volume":"40","author":"E Petek","year":"2003","unstructured":"Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel PM (2003) Molecular characterisation of a 3.5\u00a0Mb interstitial 14q deletion in a child with several phenotypic anomalies. J Med Genet 40:e47","journal-title":"J Med Genet"},{"key":"778_CR95","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.ydbio.2003.11.015","volume":"267","author":"A Petryk","year":"2004","unstructured":"Petryk A, Anderson RM, Jarcho MP, Leaf I, Carlson CS, Klingensmith J, Shawlot W, O\u2019Connor MB (2004) The mammalian twisted gastrulation gene functions in foregut and craniofacial development. Dev Biol 267:374\u2013386","journal-title":"Dev Biol"},{"key":"778_CR96","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/pd.1105","volume":"25","author":"A Pires","year":"2005","unstructured":"Pires A, Ramos L, Venancio M, Rei AI, Castedo S, Saraiva J (2005) Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement. Prenat Diagn 25:292\u2013295","journal-title":"Prenat Diagn"},{"key":"778_CR97","doi-asserted-by":"crossref","first-page":"2571","DOI":"10.1002\/ajmg.a.31370","volume":"140","author":"F Rahimov","year":"2006","unstructured":"Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC (2006) GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? Am J Med Genet A 140:2571\u20132576","journal-title":"Am J Med Genet A"},{"key":"778_CR98","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/dbio.2002.0837","volume":"252","author":"S Rastegar","year":"2002","unstructured":"Rastegar S, Albert S, Le Roux I, Fischer N, Blader P, Muller F, Strahle U (2002) A floor plate enhancer of the zebrafish netrin1 gene requires Cyclops (Nodal) signalling and the winged helix transcription factor FoxA2. Dev Biol 252:1\u201314","journal-title":"Dev Biol"},{"key":"778_CR99","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1101\/gad.1363606","volume":"20","author":"JF Reiter","year":"2006","unstructured":"Reiter JF, Skarnes WC (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Genes Dev 20:22\u201327","journal-title":"Genes Dev"},{"key":"778_CR100","doi-asserted-by":"crossref","first-page":"4505","DOI":"10.1073\/pnas.0504337103","volume":"103","author":"NA Riobo","year":"2006","unstructured":"Riobo NA, Lu K, Ai X, Haines GM, Emerson CP Jr (2006) Phosphoinositide 3-kinase and Akt are essential for Sonic Hedgehog signaling. Proc Natl Acad Sci USA 103:4505\u20134510","journal-title":"Proc Natl Acad Sci USA"},{"key":"778_CR101","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ng1196-357","volume":"14","author":"E Roessler","year":"1996","unstructured":"Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M (1996) Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357\u2013360","journal-title":"Nat Genet"},{"key":"778_CR102","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/s004390050486","volume":"100","author":"E Roessler","year":"1997","unstructured":"Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M (1997) Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet 100:172\u2013181","journal-title":"Hum Genet"},{"key":"778_CR103","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s004390051135","volume":"105","author":"E Roessler","year":"1999","unstructured":"Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis SE (1999) Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum Genet 105:489\u2013495","journal-title":"Hum Genet"},{"key":"778_CR104","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1159\/000015618","volume":"89","author":"E Roessler","year":"2000","unstructured":"Roessler E, Du Y, Glinka A, Dutra A, Niehrs C, Muenke M (2000) The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly. Cytogenet Cell Genet 89:220\u2013224","journal-title":"Cytogenet Cell Genet"},{"key":"778_CR105","doi-asserted-by":"crossref","first-page":"13424","DOI":"10.1073\/pnas.2235734100","volume":"100","author":"E Roessler","year":"2003","unstructured":"Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M (2003) Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 100:13424\u201313429","journal-title":"Proc Natl Acad Sci USA"},{"key":"778_CR106","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ajhg.2008.05.012","volume":"83","author":"E Roessler","year":"2008","unstructured":"Roessler E, Ouspenskaia MV, Karkera JD, Velez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M (2008) Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet 83:18\u201329","journal-title":"Am J Hum Genet"},{"key":"778_CR107","doi-asserted-by":"crossref","unstructured":"Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M (2009) Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet 125:393\u2013400","DOI":"10.1007\/s00439-009-0628-7"},{"key":"778_CR108","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1001\/archpedi.1979.02130100030005","volume":"133","author":"D Salazar","year":"1979","unstructured":"Salazar D, Rosenfeld W, Verma RS, Jhaveri RC, Dosik H (1979) Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q\/18p translocation. A trisomy 3q syndrome. Am J Dis Child 133:1006\u20131008","journal-title":"Am J Dis Child"},{"key":"778_CR109","volume-title":"Catalogue of unbalanced chromosome aberrations in man, 2nd edn","author":"A Schinzel","year":"2001","unstructured":"Schinzel A (2001) Catalogue of unbalanced chromosome aberrations in man, 2nd edn. Walter de Gruyter, Berlin"},{"key":"778_CR110","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1172\/JCI32032","volume":"117","author":"M Seppala","year":"2007","unstructured":"Seppala M, Depew MJ, Martinelli DC, Fan CM, Sharpe PT, Cobourne MT (2007) Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. J Clin Invest 117:1575\u20131584","journal-title":"J Clin Invest"},{"key":"778_CR111","first-page":"968","volume":"55","author":"LG Shaffer","year":"1994","unstructured":"Shaffer LG, McCaskill C, Han JY, Choo KH, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL (1994) Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968\u2013974","journal-title":"Am J Hum Genet"},{"key":"778_CR112","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1097\/GIM.0b013e3181484b49","volume":"9","author":"LG Shaffer","year":"2007","unstructured":"Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T (2007) The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 9:607\u2013616","journal-title":"Genet Med"},{"key":"778_CR113","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1006\/dbio.1999.9370","volume":"213","author":"J Song","year":"1999","unstructured":"Song J, Oh SP, Schrewe H, Nomura M, Lei H, Okano M, Gridley T, Li E (1999) The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice. Dev Biol 213:157\u2013169","journal-title":"Dev Biol"},{"key":"778_CR114","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1242\/dev.02324","volume":"133","author":"EE Storm","year":"2006","unstructured":"Storm EE, Garel S, Borello U, Hebert JM, Martinez S, McConnell SK, Martin GR, Rubenstein JL (2006) Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers. Development 133:1831\u20131844","journal-title":"Development"},{"key":"778_CR115","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1242\/dev.01563","volume":"132","author":"H Tian","year":"2005","unstructured":"Tian H, Jeong J, Harfe BD, Tabin CJ, McMahon AP (2005) Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand. Development 132:133\u2013142","journal-title":"Development"},{"key":"778_CR116","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1111\/j.1399-0004.1984.tb00462.x","volume":"25","author":"MJ Vooren van de","year":"1984","unstructured":"van de Vooren MJ, Planteydt HT, Hagemeijer A, Peters-Slough MF, Timmerman MJ (1984) Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2\u2013q25.3). Clin Genet 25:52\u201358","journal-title":"Clin Genet"},{"key":"778_CR117","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/9718","volume":"22","author":"DE Wallis","year":"1999","unstructured":"Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M (1999) Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 22:196\u2013198","journal-title":"Nat Genet"},{"key":"778_CR118","doi-asserted-by":"crossref","first-page":"2986","DOI":"10.1093\/hmg\/ddn197","volume":"17","author":"N Warr","year":"2008","unstructured":"Warr N, Powles-Glover N, Chappell A, Robson J, Norris D, Arkell RM (2008) Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. Hum Mol Genet 17:2986\u20132996","journal-title":"Hum Mol Genet"},{"key":"778_CR119","doi-asserted-by":"crossref","first-page":"8460","DOI":"10.1073\/pnas.93.16.8460","volume":"93","author":"TE Willnow","year":"1996","unstructured":"Willnow TE, Hilpert J, Armstrong SA, Rohlmann A, Hammer RE, Burns DK, Herz J (1996) Defective forebrain development in mice lacking gp330\/megalin. Proc Natl Acad Sci USA 93:8460\u20138464","journal-title":"Proc Natl Acad Sci USA"},{"key":"778_CR120","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/hmg\/4.4.709","volume":"4","author":"K Yamakawa","year":"1995","unstructured":"Yamakawa K, Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomski C, Kim UJ, Korenberg JR (1995) Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet 4:709\u2013716","journal-title":"Hum Mol Genet"},{"key":"778_CR121","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S0092-8674(01)00385-3","volume":"105","author":"XM Zhang","year":"2001","unstructured":"Zhang XM, Ramalho-Santos M, McMahon AP (2001) Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L\/R asymmetry by the mouse node. Cell 105:781\u2013792","journal-title":"Cell"},{"key":"778_CR122","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.devcel.2006.04.005","volume":"10","author":"W Zhang","year":"2006","unstructured":"Zhang W, Kang JS, Cole F, Yi MJ, Krauss RS (2006) Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. Dev Cell 10:657\u2013665","journal-title":"Dev Cell"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-009-0778-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-009-0778-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-009-0778-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T16:28:02Z","timestamp":1739723282000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-009-0778-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,12]]},"references-count":122,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["778"],"URL":"https:\/\/doi.org\/10.1007\/s00439-009-0778-7","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,12]]}}}