{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:59Z","timestamp":1791327659282,"version":"4.3.1"},"reference-count":110,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2007,2,2]],"date-time":"2007-02-02T00:00:00Z","timestamp":1170374400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2007,12]]},"DOI":"10.1186\/1750-1172-2-8","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T19:26:22Z","timestamp":1172085982000},"source":"Crossref","is-referenced-by-count":327,"title":["Holoprosencephaly"],"prefix":"10.1186","volume":"2","author":[{"given":"Christ\u00e8le","family":"Dubourg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Bendavid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Henry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,2,2]]},"reference":[{"key":"59_CR1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000104278","volume":"23","author":"W Demyer","year":"1963","unstructured":"Demyer W, Zeman W: Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963, 23: 1-36.","journal-title":"Confin Neurol"},{"issue":"2","key":"59_CR2","first-page":"431","volume":"14","author":"AJ Barkovich","year":"1993","unstructured":"Barkovich AJ, Quint DJ: Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 1993, 14 (2): 431-440.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"1","key":"59_CR3","first-page":"151","volume":"23","author":"EM Simon","year":"2002","unstructured":"Simon EM, Hevner RF, Pinter JD, Clegg NJ, Delgado M, Kinsman SL, Hahn JS, Barkovich AJ: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 2002, 23 (1): 151-156.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"10","key":"59_CR4","first-page":"1955","volume":"21","author":"EM Simon","year":"2000","unstructured":"Simon EM, Hevner R, Pinter JD, Clegg NJ, Miller VS, Kinsman SL, Hahn JS, Barkovich AJ: Assessment of the deep gray nuclei in holoprosencephaly. AJNR Am J Neuroradiol. 2000, 21 (10): 1955-1961.","journal-title":"AJNR Am J Neuroradiol"},{"key":"59_CR5","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: The Face Predicts the Brain: Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly (Arhinencephaly). Pediatrics. 1964, 34: 256-263.","journal-title":"Pediatrics"},{"issue":"3-4","key":"59_CR6","first-page":"197","volume":"1","author":"AL Delezoide","year":"1990","unstructured":"Delezoide AL, Narcy F, Larroche JC: Cerebral midline developmental anomalies: spectrum and associated features. Genet Couns. 1990, 1 (3-4): 197-210.","journal-title":"Genet Couns"},{"issue":"1","key":"59_CR7","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1002\/ajmg.a.30110","volume":"129","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: Phenotypic and molecular variability of the holoprosencephalic spectrum. Am J Med Genet A. 2004, 129 (1): 21-24. 10.1002\/ajmg.a.30110.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"59_CR8","first-page":"294","volume":"11","author":"E Roach","year":"1975","unstructured":"Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD: Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975, 11 (2): 294-313.","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"2","key":"59_CR9","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1002\/ajmg.1320340232","volume":"34","author":"MM Cohen Jr.","year":"1989","unstructured":"Cohen MM: Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet. 1989, 34 (2): 271-288. 10.1002\/ajmg.1320340232.","journal-title":"Am J Med Genet"},{"issue":"3","key":"59_CR10","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1002\/tera.1420400304","volume":"40","author":"MM Cohen Jr.","year":"1989","unstructured":"Cohen MM: Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology. 1989, 40 (3): 211-235. 10.1002\/tera.1420400304.","journal-title":"Teratology"},{"issue":"3","key":"59_CR11","doi-asserted-by":"publisher","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: Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet. 1996, 64 (3): 465-472. 10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O.","journal-title":"Am J Med Genet"},{"issue":"3","key":"59_CR12","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/tera.1420160304","volume":"16","author":"E Matsunaga","year":"1977","unstructured":"Matsunaga E, Shiota K: Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1977, 16 (3): 261-272. 10.1002\/tera.1420160304.","journal-title":"Teratology"},{"issue":"2","key":"59_CR13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.pediatrneurol.2004.03.006","volume":"31","author":"JS Hahn","year":"2004","unstructured":"Hahn JS, Plawner LL: Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 2004, 31 (2): 79-88. 10.1016\/j.pediatrneurol.2004.03.006.","journal-title":"Pediatr Neurol"},{"issue":"2","key":"59_CR14","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/uog.2851","volume":"28","author":"O Picone","year":"2006","unstructured":"Picone O, Hirt R, Suarez B, Coulomb A, Tachdjian G, Frydman R, Senat MV: Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging. Ultrasound Obstet Gynecol. 2006, 28 (2): 229-231. 10.1002\/uog.2851.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"59_CR15","unstructured":"OMIM. [ http:\/\/www.ncbi.nlm.nih.gov\/omim ]"},{"issue":"9","key":"59_CR16","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1002\/bdra.20295","volume":"76","author":"MM Cohen Jr.","year":"2006","unstructured":"Cohen MM: Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006, 76 (9): 658-673. 10.1002\/bdra.20295.","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"issue":"9","key":"59_CR17","first-page":"997","volume":"48","author":"Y Baba","year":"1999","unstructured":"Baba Y, Nakamura T, Takizawa K, Nishimura J, Suzuki M: [Perioperative considerations for a holoprosencephaly patient]. Masui. 1999, 48 (9): 997-1002.","journal-title":"Masui"},{"issue":"6","key":"59_CR18","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1097\/00006534-199212000-00002","volume":"90","author":"DL Elias","year":"1992","unstructured":"Elias DL, Kawamoto HK, Wilson LF: Holoprosencephaly and midline facial anomalies: redefining classification and management. Plast Reconstr Surg. 1992, 90 (6): 951-958. 10.1097\/00006534-199212000-00002.","journal-title":"Plast Reconstr Surg"},{"issue":"4","key":"59_CR19","first-page":"196","volume":"12","author":"MM Cohen Jr.","year":"1992","unstructured":"Cohen MM, Sulik KK: Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol. 1992, 12 (4): 196-244.","journal-title":"J Craniofac Genet Dev Biol"},{"issue":"7","key":"59_CR20","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1212\/WNL.59.7.1058","volume":"59","author":"LL Plawner","year":"2002","unstructured":"Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich AJ, Simon EM, Clegg NJ, Sweet VT, Stashinko EE, Hahn JS: Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 2002, 59 (7): 1058-1066.","journal-title":"Neurology"},{"issue":"12","key":"59_CR21","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1212\/01.WNL.0000037483.31989.B9","volume":"59","author":"AJ Lewis","year":"2002","unstructured":"Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, Hahn JS: Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. 2002, 59 (12): 1860-1865.","journal-title":"Neurology"},{"key":"59_CR22","unstructured":"Carter Center. [ http:\/\/www.cartercenter.org ]"},{"issue":"1","key":"59_CR23","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1002\/(SICI)1098-2779(2000)6:1<15::AID-MRDD3>3.0.CO;2-8","volume":"6","author":"M Muenke","year":"2000","unstructured":"Muenke M, Cohen MM: Genetic approaches to understanding brain development: holoprosencephaly as a model. Ment Retard Dev Disabil Res Rev. 2000, 6 (1): 15-21. 10.1002\/(SICI)1098-2779(2000)6:1<15::AID-MRDD3>3.0.CO;2-8.","journal-title":"Ment Retard Dev Disabil Res Rev"},{"issue":"2","key":"59_CR24","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1002\/ajmg.a.30070","volume":"128","author":"EE Stashinko","year":"2004","unstructured":"Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS, Levey EB: A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet A. 2004, 128 (2): 114-119. 10.1002\/ajmg.a.30070.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"59_CR25","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1002\/(SICI)1096-8628(19990625)89:2<116::AID-AJMG10>3.0.CO;2-4","volume":"89","author":"M Barr Jr.","year":"1999","unstructured":"Barr M, Cohen MM: Holoprosencephaly survival and performance. Am J Med Genet. 1999, 89 (2): 116-120. 10.1002\/(SICI)1096-8628(19990625)89:2<116::AID-AJMG10>3.0.CO;2-4.","journal-title":"Am J Med Genet"},{"issue":"2","key":"59_CR26","doi-asserted-by":"publisher","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: Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet. 1997, 73 (2): 217-226. 10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S.","journal-title":"Am J Med Genet"},{"issue":"7","key":"59_CR27","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1136\/jmg.33.7.578","volume":"33","author":"ML Whiteford","year":"1996","unstructured":"Whiteford ML, Tolmie JL: Holoprosencephaly in the west of Scotland 1975-1994. J Med Genet. 1996, 33 (7): 578-584.","journal-title":"J Med Genet"},{"issue":"3","key":"59_CR28","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1111\/j.1469-7610.2004.00354.x","volume":"46","author":"HJ Leevers","year":"2005","unstructured":"Leevers HJ, Roesler CP, Flax J, Benasich AA: The Carter Neurocognitive Assessment for children with severely compromised expressive language and motor skills. J Child Psychol Psychiatry. 2005, 46 (3): 287-303. 10.1111\/j.1469-7610.2004.00354.x.","journal-title":"J Child Psychol Psychiatry"},{"issue":"4","key":"59_CR29","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.braindev.2005.07.005","volume":"28","author":"H Jing","year":"2006","unstructured":"Jing H, Flax J, Roesler CP, Choudhury N, Benasich AA: Auditory event-related responses in children with semi-lobar holoprosencephaly. Brain Dev. 2006, 28 (4): 207-214. 10.1016\/j.braindev.2005.07.005.","journal-title":"Brain Dev"},{"issue":"4","key":"59_CR30","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/S0022-3476(83)80185-1","volume":"102","author":"M Barr Jr.","year":"1983","unstructured":"Barr M, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN: Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983, 102 (4): 565-568. 10.1016\/S0022-3476(83)80185-1.","journal-title":"J Pediatr"},{"issue":"4","key":"59_CR31","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<320::AID-AJMG11>3.0.CO;2-8","volume":"90","author":"LA Croen","year":"2000","unstructured":"Croen LA, Shaw GM, Lammer EJ: Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study. Am J Med Genet. 2000, 90 (4): 320-325. 10.1002\/(SICI)1096-8628(20000214)90:4<320::AID-AJMG11>3.0.CO;2-8.","journal-title":"Am J Med Genet"},{"issue":"6","key":"59_CR32","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1002\/tera.1420420605","volume":"42","author":"M Repetto","year":"1990","unstructured":"Repetto M, Maziere JC, Citadelle D, Dupuis R, Meier M, Biade S, Quiec D, Roux C: Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitro. Teratology. 1990, 42 (6): 611-618. 10.1002\/tera.1420420605.","journal-title":"Teratology"},{"key":"59_CR33","doi-asserted-by":"crossref","first-page":"S820","DOI":"10.1093\/clinids\/12.Supplement_7.S820","volume":"12 Suppl 7","author":"LD Frenkel","year":"1990","unstructured":"Frenkel LD, Gaur S, Tsolia M, Scudder R, Howell R, Kesarwala H: Cytomegalovirus infection in children with AIDS. Rev Infect Dis. 1990, 12 Suppl 7: S820-6.","journal-title":"Rev Infect Dis"},{"issue":"1","key":"59_CR34","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/ajmg.1320280110","volume":"28","author":"PJ Byrne","year":"1987","unstructured":"Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK: Cyclopia and congenital cytomegalovirus infection. Am J Med Genet. 1987, 28 (1): 61-65. 10.1002\/ajmg.1320280110.","journal-title":"Am J Med Genet"},{"issue":"1","key":"59_CR35","first-page":"25","volume":"67","author":"MP Lison","year":"1967","unstructured":"Lison MP, Armbrust-Figueiredo J, Mega D: [Arhinencephalia: considerations apropos of a case diagnosed during life]. Acta Neurol Psychiatr Belg. 1967, 67 (1): 25-36.","journal-title":"Acta Neurol Psychiatr Belg"},{"issue":"10","key":"59_CR36","first-page":"647","volume":"23","author":"Y Castel","year":"1976","unstructured":"Castel Y, Riviere D, Toudic L, Nouaille Y, L'Henoret J, Duparcmeur H, Leroy JP, Balouet G: [Two cases of cyclopia]. Ann Pediatr (Paris). 1976, 23 (10): 647-651.","journal-title":"Ann Pediatr (Paris)"},{"issue":"31","key":"59_CR37","first-page":"948","volume":"65","author":"C Probst","year":"1976","unstructured":"Probst C: [Cerebral edema: neurosurgical aspects of pathological, diagnostic and therapeutic problems (author's transl)]. Schweiz Rundsch Med Prax. 1976, 65 (31): 948-956.","journal-title":"Schweiz Rundsch Med Prax"},{"issue":"4","key":"59_CR38","doi-asserted-by":"publisher","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: Holoprosencephaly in RSH\/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?. Am J Med Genet. 1996, 66 (4): 478-484. 10.1002\/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q.","journal-title":"Am J Med Genet"},{"issue":"1","key":"59_CR39","doi-asserted-by":"publisher","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: Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet. 1980, 7 (1): 47-74. 10.1002\/ajmg.1320070110.","journal-title":"Am J Med Genet"},{"issue":"4","key":"59_CR40","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/j.1399-0004.1985.tb02284.x","volume":"27","author":"JE Wraith","year":"1985","unstructured":"Wraith JE, Super M, Watson GH, Phillips M: Velo-cardio-facial syndrome presenting as holoprosencephaly. Clin Genet. 1985, 27 (4): 408-410.","journal-title":"Clin Genet"},{"issue":"5","key":"59_CR41","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1023\/A:1005406719292","volume":"21","author":"E Roessler","year":"1998","unstructured":"Roessler E, Muenke M: Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis. 1998, 21 (5): 481-497. 10.1023\/A:1005406719292.","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"59_CR42","doi-asserted-by":"publisher","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: Segregation analysis in nonsyndromic holoprosencephaly. Am J Med Genet. 1998, 77 (2): 139-143. 10.1002\/(SICI)1096-8628(19980501)77:2<139::AID-AJMG6>3.0.CO;2-N.","journal-title":"Am J Med Genet"},{"issue":"5","key":"59_CR43","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1086\/344412","volume":"71","author":"JE Ming","year":"2002","unstructured":"Ming JE, Muenke M: Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet. 2002, 71 (5): 1017-1032. 10.1086\/344412.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"59_CR44","doi-asserted-by":"publisher","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: Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996, 14 (3): 353-356. 10.1038\/ng1196-353.","journal-title":"Nat Genet"},{"issue":"2","key":"59_CR45","doi-asserted-by":"publisher","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: Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet. 1997, 100 (2): 172-181. 10.1007\/s004390050486.","journal-title":"Hum Genet"},{"issue":"9","key":"59_CR46","doi-asserted-by":"publisher","first-page":"1683","DOI":"10.1093\/hmg\/8.9.1683","volume":"8","author":"S Odent","year":"1999","unstructured":"Odent S, Attie-Bitach T, Blayau M, Mathieu M, Auger J, Delezo\u00efde AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M: Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet. 1999, 8 (9): 1683-1689. 10.1093\/hmg\/8.9.1683.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"59_CR47","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1006\/mgme.1999.2895","volume":"68","author":"DE Wallis","year":"1999","unstructured":"Wallis DE, Muenke M: Molecular mechanisms of holoprosencephaly. Mol Genet Metab. 1999, 68 (2): 126-138. 10.1006\/mgme.1999.2895.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"59_CR48","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1097\/00001665-200501000-00016","volume":"16","author":"T Nagase","year":"2005","unstructured":"Nagase T, Nagase M, Osumi N, Fukuda S, Nakamura S, Ohsaki K, Harii K, Asato H, Yoshimura K: Craniofacial anomalies of the cultured mouse embryo induced by inhibition of sonic hedgehog signaling: an animal model of holoprosencephaly. J Craniofac Surg. 2005, 16 (1): 80-88. 10.1097\/00001665-200501000-00016.","journal-title":"J Craniofac Surg"},{"issue":"1","key":"59_CR49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1006\/dbio.1998.9103","volume":"205","author":"C Chiang","year":"1999","unstructured":"Chiang C, Swan RZ, Grachtchouk M, Bolinger M, Litingtung Y, Robertson EK, Cooper MK, Gaffield W, Westphal H, Beachy PA, Dlugosz AA: Essential role for Sonic hedgehog during hair follicle morphogenesis. Dev Biol. 1999, 205 (1): 1-9. 10.1006\/dbio.1998.9103.","journal-title":"Dev Biol"},{"issue":"1","key":"59_CR50","doi-asserted-by":"publisher","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: Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat. 2004, 24 (1): 43-51. 10.1002\/humu.20056.","journal-title":"Hum Mutat"},{"issue":"1-2","key":"59_CR51","doi-asserted-by":"publisher","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: Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet. 2006, 119 (1-2): 1-8. 10.1007\/s00439-005-0097-6.","journal-title":"Hum Genet"},{"issue":"41","key":"59_CR52","doi-asserted-by":"publisher","first-page":"42889","DOI":"10.1074\/jbc.M405161200","volume":"279","author":"E Traiffort","year":"2004","unstructured":"Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M: Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem. 2004, 279 (41): 42889-42897. 10.1074\/jbc.M405161200.","journal-title":"J Biol Chem"},{"issue":"47","key":"59_CR53","doi-asserted-by":"publisher","first-page":"17026","DOI":"10.1073\/pnas.0507848102","volume":"102","author":"T Maity","year":"2005","unstructured":"Maity T, Fuse N, Beachy PA: Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. Proc Natl Acad Sci U S A. 2005, 102 (47): 17026-17031. 10.1073\/pnas.0507848102.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"59_CR54","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1002\/ajmg.10221","volume":"108","author":"LY Brown","year":"2002","unstructured":"Brown LY, Hodge SE, Johnson WG, Guy SG, Nye JS, Brown S: Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. Am J Med Genet. 2002, 108 (2): 128-131. 10.1002\/ajmg.10221.","journal-title":"Am J Med Genet"},{"issue":"4","key":"59_CR55","doi-asserted-by":"publisher","first-page":"1618","DOI":"10.1073\/pnas.97.4.1618","volume":"97","author":"T Nagai","year":"2000","unstructured":"Nagai T, Aruga J, Minowa O, Sugimoto T, Ohno Y, Noda T, Mikoshiba K: Zic2 regulates the kinetics of neurulation. Proc Natl Acad Sci U S A. 2000, 97 (4): 1618-1623. 10.1073\/pnas.97.4.1618.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6","key":"59_CR56","first-page":"887","volume":"128","author":"RB Lowry","year":"1974","unstructured":"Lowry RB: Letter: Holoprosencephaly. Am J Dis Child. 1974, 128 (6): 887.","journal-title":"Am J Dis Child"},{"issue":"17","key":"59_CR57","doi-asserted-by":"crossref","first-page":"4057","DOI":"10.1242\/dev.129.17.4057","volume":"129","author":"M Carl","year":"2002","unstructured":"Carl M, Loosli F, Wittbrodt J: Six3 inactivation reveals its essential role for the formation and patterning of the vertebrate eye. Development. 2002, 129 (17): 4057-4063.","journal-title":"Development"},{"issue":"2","key":"59_CR58","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1097\/00019052-200404000-00006","volume":"17","author":"SL Kinsman","year":"2004","unstructured":"Kinsman SL: White matter imaging in holoprosencephaly in children. Curr Opin Neurol. 2004, 17 (2): 115-119. 10.1097\/00019052-200404000-00006.","journal-title":"Curr Opin Neurol"},{"issue":"1","key":"59_CR59","doi-asserted-by":"publisher","first-page":"e4","DOI":"10.1136\/jmg.2004.023416","volume":"42","author":"L Pasquier","year":"2005","unstructured":"Pasquier L, Dubourg C, Gonzales M, Lazaro L, David V, Odent S, Encha-Razavi F: First occurrence of aprosencephaly\/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype\/genotype correlation in our series of SIX3 mutations. J Med Genet. 2005, 42 (1): e4-10.1136\/jmg.2004.023416.","journal-title":"J Med Genet"},{"issue":"2","key":"59_CR60","doi-asserted-by":"publisher","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: Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet. 2000, 25 (2): 205-208. 10.1038\/76074.","journal-title":"Nat Genet"},{"issue":"13","key":"59_CR61","doi-asserted-by":"publisher","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: The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999, 8 (13): 2479-2488. 10.1093\/hmg\/8.13.2479.","journal-title":"Hum Mol Genet"},{"key":"59_CR62","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/1471-2350-7-60","volume":"7","author":"B Maranda","year":"2006","unstructured":"Maranda B, Lemieux N, Lemyre E: Familial deletion 18p syndrome: case report. BMC Med Genet. 2006, 7: 60-10.1186\/1471-2350-7-60.","journal-title":"BMC Med Genet"},{"issue":"9","key":"59_CR63","doi-asserted-by":"publisher","first-page":"3639","DOI":"10.1128\/MCB.25.9.3639-3647.2005","volume":"25","author":"J Shen","year":"2005","unstructured":"Shen J, Walsh CA: Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice. Mol Cell Biol. 2005, 25 (9): 3639-3647. 10.1128\/MCB.25.9.3639-3647.2005.","journal-title":"Mol Cell Biol"},{"issue":"4","key":"59_CR64","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.modgep.2005.01.001","volume":"5","author":"L Jin","year":"2005","unstructured":"Jin L, Zhou Y, Kuang C, Lin L, Chen Y: Expression pattern of TG-interacting factor 2 during mouse development. Gene Expr Patterns. 2005, 5 (4): 457-462.","journal-title":"Gene Expr Patterns"},{"issue":"6","key":"59_CR65","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1002\/dvdy.20725","volume":"235","author":"JL Knepper","year":"2006","unstructured":"Knepper JL, James AC, Ming JE: TGIF, a gene associated with human brain defects, regulates neuronal development. Dev Dyn. 2006, 235 (6): 1482-1490. 10.1002\/dvdy.20725.","journal-title":"Dev Dyn"},{"issue":"4","key":"59_CR66","doi-asserted-by":"publisher","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: Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002, 110 (4): 297-301. 10.1007\/s00439-002-0695-5.","journal-title":"Hum Genet"},{"issue":"23","key":"59_CR67","doi-asserted-by":"publisher","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: Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003, 100 (23): 13424-13429. 10.1073\/pnas.2235734100.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"59_CR68","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1007\/s00439-002-0709-3","volume":"110","author":"JM de la Cruz","year":"2002","unstructured":"de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M: A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet. 2002, 110 (5): 422-428. 10.1007\/s00439-002-0709-3.","journal-title":"Hum Genet"},{"key":"59_CR69","volume-title":"Role of FAST1 gene in the development of holoprosencephaly and congenital cardiac malformations in humans.: Baltimore USA.","author":"M Ouspenskaia","year":"2002","unstructured":"Ouspenskaia M: Role of FAST1 gene in the development of holoprosencephaly and congenital cardiac malformations in humans.: Baltimore USA;2002."},{"issue":"1","key":"59_CR70","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1399-0004.1987.tb02766.x","volume":"31","author":"DC Aronson","year":"1987","unstructured":"Aronson DC, Jansweijer MC, Hoovers JM, Barth PG: A male infant with holoprosencephaly, associated with ring chromosome 21. Clin Genet. 1987, 31 (1): 48-52.","journal-title":"Clin Genet"},{"issue":"3","key":"59_CR71","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1399-0004.1987.tb03357.x","volume":"32","author":"JM Hoovers","year":"1987","unstructured":"Hoovers JM, Jansweijer MC: Holoprosencephaly associated with ring chromosome 21. Clin Genet. 1987, 32 (3): 207.","journal-title":"Clin Genet"},{"issue":"2","key":"59_CR72","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1159\/000263552","volume":"5","author":"SM Berry","year":"1990","unstructured":"Berry SM, Gosden C, Snijders RJ, Nicolaides KH: Fetal holoprosencephaly: associated malformations and chromosomal defects. Fetal Diagn Ther. 1990, 5 (2): 92-99.","journal-title":"Fetal Diagn Ther"},{"issue":"3","key":"59_CR73","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1002\/ajmg.1320360312","volume":"36","author":"LL Estabrooks","year":"1990","unstructured":"Estabrooks LL, Rao KW, Donahue RP, Aylsworth AS: Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3). Am J Med Genet. 1990, 36 (3): 306-309. 10.1002\/ajmg.1320360312.","journal-title":"Am J Med Genet"},{"issue":"5","key":"59_CR74","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: 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. 1995, 57 (5): 1074-1079.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"59_CR75","doi-asserted-by":"publisher","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: Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum Genet. 1999, 105 (5): 489-495. 10.1007\/s004390051135.","journal-title":"Hum Genet"},{"issue":"6412","key":"59_CR76","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1038\/361543a0","volume":"361","author":"X Zhou","year":"1993","unstructured":"Zhou X, Sasaki H, Lowe L, Hogan BL, Kuehn MR: Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation. Nature. 1993, 361 (6412): 543-547. 10.1038\/361543a0.","journal-title":"Nature"},{"issue":"6698","key":"59_CR77","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1038\/26013","volume":"395","author":"B Feldman","year":"1998","unstructured":"Feldman B, Gates MA, Egan ES, Dougan ST, Rennebeck G, Sirotkin HI, Schier AF, Talbot WS: Zebrafish organizer development and germ-layer formation require nodal-related signals. Nature. 1998, 395 (6698): 181-185. 10.1038\/26013.","journal-title":"Nature"},{"issue":"3","key":"59_CR78","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/81695","volume":"26","author":"RN Bamford","year":"2000","unstructured":"Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B: Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000, 26 (3): 365-369. 10.1038\/81695.","journal-title":"Nat Genet"},{"issue":"6768","key":"59_CR79","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1038\/35000126","volume":"403","author":"AF Schier","year":"2000","unstructured":"Schier AF, Shen MM: Nodal signalling in vertebrate development. Nature. 2000, 403 (6768): 385-389. 10.1038\/35000126.","journal-title":"Nature"},{"issue":"7","key":"59_CR80","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/S0168-9525(00)02006-0","volume":"16","author":"MM Shen","year":"2000","unstructured":"Shen MM, Schier AF: The EGF-CFC gene family in vertebrate development. Trends Genet. 2000, 16 (7): 303-309. 10.1016\/S0168-9525(00)02006-0.","journal-title":"Trends Genet"},{"issue":"1-2","key":"59_CR81","doi-asserted-by":"publisher","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: The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. Cytogenet Genome Res. 2002, 97 (1-2): 62-67. 10.1159\/000064057.","journal-title":"Cytogenet Genome Res"},{"issue":"3-4","key":"59_CR82","doi-asserted-by":"publisher","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: The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly. Cytogenet Cell Genet. 2000, 89 (3-4): 220-224. 10.1159\/000015618.","journal-title":"Cytogenet Cell Genet"},{"issue":"6665","key":"59_CR83","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/34848","volume":"391","author":"A Glinka","year":"1998","unstructured":"Glinka A, Wu W, Delius H, Monaghan AP, Blumenstock C, Niehrs C: Dickkopf-1 is a member of a new family of secreted proteins and functions in head induction. Nature. 1998, 391 (6665): 357-362. 10.1038\/34848.","journal-title":"Nature"},{"issue":"4","key":"59_CR84","doi-asserted-by":"publisher","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: Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet. 1995, 4 (4): 709-716. 10.1093\/hmg\/4.4.709.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"59_CR85","doi-asserted-by":"publisher","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: A floor plate enhancer of the zebrafish netrin1 gene requires Cyclops (Nodal) signalling and the winged helix transcription factor FoxA2. Dev Biol. 2002, 252 (1): 1-14. 10.1006\/dbio.2002.0837.","journal-title":"Dev Biol"},{"issue":"1","key":"59_CR86","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.devbrainres.2004.09.009","volume":"154","author":"C Lehmann","year":"2005","unstructured":"Lehmann C, Naumann WW: Axon pathfinding and the floor plate factor Reissner's substance in wildtype, cyclops and one-eyed pinhead mutants of Danio rerio. Brain Res Dev Brain Res. 2005, 154 (1): 1-14. 10.1016\/j.devbrainres.2004.09.009.","journal-title":"Brain Res Dev Brain Res"},{"issue":"6578","key":"59_CR87","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1038\/381155a0","volume":"381","author":"J Collignon","year":"1996","unstructured":"Collignon J, Varlet I, Robertson EJ: Relationship between asymmetric nodal expression and the direction of embryonic turning. Nature. 1996, 381 (6578): 155-158. 10.1038\/381155a0.","journal-title":"Nature"},{"issue":"18","key":"59_CR88","doi-asserted-by":"publisher","first-page":"1628","DOI":"10.1016\/S0960-9822(02)01147-8","volume":"12","author":"T Caspary","year":"2002","unstructured":"Caspary T, Garcia-Garcia MJ, Huangfu D, Eggenschwiler JT, Wyler MR, Rakeman AS, Alcorn HL, Anderson KV: Mouse Dispatched homolog1 is required for long-range, but not juxtacrine, Hh signaling. Curr Biol. 2002, 12 (18): 1628-1632. 10.1016\/S0960-9822(02)01147-8.","journal-title":"Curr Biol"},{"issue":"2","key":"59_CR89","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1016\/j.ydbio.2004.01.022","volume":"269","author":"Y Nakano","year":"2004","unstructured":"Nakano Y, Kim HR, Kawakami A, Roy S, Schier AF, Ingham PW: Inactivation of dispatched 1 by the chameleon mutation disrupts Hedgehog signalling in the zebrafish embryo. Dev Biol. 2004, 269 (2): 381-392. 10.1016\/j.ydbio.2004.01.022.","journal-title":"Dev Biol"},{"issue":"1","key":"59_CR90","doi-asserted-by":"publisher","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: Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand. Development. 2005, 132 (1): 133-142. 10.1242\/dev.01563.","journal-title":"Development"},{"issue":"3","key":"59_CR91","first-page":"181","volume":"45","author":"MM Tiang","year":"2004","unstructured":"Tiang MM, Lau BH, Lee TX, Ling MI: Holoprosencephaly presenting as membranous aplasia cutis and diabetes insipidus: report of one case. Acta Paediatr Taiwan. 2004, 45 (3): 181-183.","journal-title":"Acta Paediatr Taiwan"},{"issue":"6838","key":"59_CR92","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1038\/35079648","volume":"411","author":"X Zeng","year":"2001","unstructured":"Zeng X, Goetz JA, Suber LM, Scott WJ, Schreiner CM, Robbins DJ: A freely diffusible form of Sonic hedgehog mediates long-range signalling. Nature. 2001, 411 (6838): 716-720. 10.1038\/35079648.","journal-title":"Nature"},{"issue":"5","key":"59_CR93","doi-asserted-by":"publisher","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: Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics. 2005, 85 (5): 608-621. 10.1016\/j.ygeno.2005.01.010.","journal-title":"Genomics"},{"issue":"1","key":"59_CR94","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1101\/gad.1363606","volume":"20","author":"JF Reiter","year":"2006","unstructured":"Reiter JF, Skarnes WC: Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Genes Dev. 2006, 20 (1): 22-27. 10.1101\/gad.1363606.","journal-title":"Genes Dev"},{"issue":"4","key":"59_CR95","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1002\/(SICI)1097-0177(200004)217:4<449::AID-DVDY12>3.0.CO;2-8","volume":"217","author":"IC Scott","year":"2000","unstructured":"Scott IC, Steiglitz BM, Clark TG, Pappano WN, Greenspan DS: Spatiotemporal expression patterns of mammalian chordin during postgastrulation embryogenesis and in postnatal brain. Dev Dyn. 2000, 217 (4): 449-456. 10.1002\/(SICI)1097-0177(200004)217:4<449::AID-DVDY12>3.0.CO;2-8.","journal-title":"Dev Dyn"},{"issue":"2","key":"59_CR96","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1006\/dbio.1999.9383","volume":"213","author":"IC Scott","year":"1999","unstructured":"Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz BM, Thomas CL, Maas SA, Takahara K, Cho KW, Greenspan DS: Mammalian BMP-1\/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis. Dev Biol. 1999, 213 (2): 283-300. 10.1006\/dbio.1999.9383.","journal-title":"Dev Biol"},{"issue":"10","key":"59_CR97","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: Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite. Genes Dev. 1998, 12 (10): 1438-1452.","journal-title":"Genes Dev"},{"issue":"21","key":"59_CR98","doi-asserted-by":"crossref","first-page":"4975","DOI":"10.1242\/dev.129.21.4975","volume":"129","author":"RM Anderson","year":"2002","unstructured":"Anderson RM, Lawrence AR, Stottmann RW, Bachiller D, Klingensmith J: Chordin and noggin promote organizing centers of forebrain development in the mouse. Development. 2002, 129 (21): 4975-4987.","journal-title":"Development"},{"issue":"16","key":"59_CR99","doi-asserted-by":"publisher","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: Defective forebrain development in mice lacking gp330\/megalin. Proc Natl Acad Sci U S A. 1996, 93 (16): 8460-8464. 10.1073\/pnas.93.16.8460.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6720","key":"59_CR100","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1038\/17611","volume":"397","author":"PT Chuang","year":"1999","unstructured":"Chuang PT, McMahon AP: Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein. Nature. 1999, 397 (6720): 617-621. 10.1038\/17611.","journal-title":"Nature"},{"issue":"4","key":"59_CR101","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1002\/(SICI)1097-0177(199808)212:4<533::AID-AJA6>3.0.CO;2-I","volume":"212","author":"AS Tucker","year":"1998","unstructured":"Tucker AS, Al Khamis A, Sharpe PT: Interactions between Bmp-4 and Msx-1 act to restrict gene expression to odontogenic mesenchyme. Dev Dyn. 1998, 212 (4): 533-539. 10.1002\/(SICI)1097-0177(199808)212:4<533::AID-AJA6>3.0.CO;2-I.","journal-title":"Dev Dyn"},{"issue":"4","key":"59_CR102","doi-asserted-by":"publisher","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: BMP4 plays a key role in left-right patterning in chick embryos by maintaining Sonic Hedgehog asymmetry. Mol Cell. 2001, 7 (4): 789-799. 10.1016\/S1097-2765(01)00223-4.","journal-title":"Mol Cell"},{"issue":"5","key":"59_CR103","doi-asserted-by":"publisher","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: Cdo functions at multiple points in the sonic hedgehog pathway, and cdo-deficient mice accurately model human holoprosencephaly. Dev Cell. 2006, 10 (5): 657-665. 10.1016\/j.devcel.2006.04.005.","journal-title":"Dev Cell"},{"issue":"2","key":"59_CR104","doi-asserted-by":"publisher","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'Connor MB: The mammalian twisted gastrulation gene functions in foregut and craniofacial development. Dev Biol. 2004, 267 (2): 374-386. 10.1016\/j.ydbio.2003.11.015.","journal-title":"Dev Biol"},{"key":"59_CR105","volume-title":"MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly - Unpublished Data","author":"DC Bendavid C","year":"2007","unstructured":"Bendavid C DC: MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly - Unpublished Data. 2007"},{"issue":"2","key":"59_CR106","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: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 2003, 112 (2): 131-134.","journal-title":"Hum Genet"},{"issue":"4","key":"59_CR107","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1242\/dev.02239","volume":"133","author":"Y Jeong","year":"2006","unstructured":"Jeong Y, El-Jaick K, Roessler E, Muenke M, Epstein DJ: A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development. 2006, 133 (4): 761-772. 10.1242\/dev.02239.","journal-title":"Development"},{"key":"59_CR108","unstructured":"MLPA MRC Holland. [ http:\/\/www.mlpa.com ]"},{"key":"59_CR109","volume-title":"J Med Genet","author":"C Bendavid","year":"2005","unstructured":"Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M: Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet. 2005"},{"issue":"7","key":"59_CR110","first-page":"125","volume":"7","author":"MM Cohen Jr.","year":"1971","unstructured":"Cohen MM, Jirasek JE, Guzman RT, Gorlin RJ, Peterson MQ: Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser. 1971, 7 (7): 125-135.","journal-title":"Birth Defects Orig Artic Ser"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-2-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1750-1172-2-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-2-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T19:06:28Z","timestamp":1683745588000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-2-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2,2]]},"references-count":110,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["59"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-2-8","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2,2]]},"article-number":"8"}}