{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:00:55Z","timestamp":1791043255519,"version":"4.1.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2010,5,19]],"date-time":"2010-05-19T00:00:00Z","timestamp":1274227200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1038\/ejhg.2010.41","type":"journal-article","created":{"date-parts":[[2010,5,19]],"date-time":"2010-05-19T10:23:01Z","timestamp":1274264581000},"page":"1095-1099","source":"Crossref","is-referenced-by-count":50,"title":["Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements"],"prefix":"10.1038","volume":"18","author":[{"given":"Annabel","family":"Whibley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Urquhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Dore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Willatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgina","family":"Parkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Gaunt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F Lucy","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,5,19]]},"reference":[{"key":"BFejhg201041_CR1","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1086\/302562","volume":"65","author":"JC Shih","year":"1999","unstructured":"Shih JC, Thompson RF : Monoamine oxidase in neuropsychiatry and behavior. Am J Hum Genet 1999; 65: 593\u2013598.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201041_CR2","doi-asserted-by":"publisher","first-page":"1527","DOI":"10.1016\/j.addr.2008.06.002","volume":"60","author":"M Bortolato","year":"2008","unstructured":"Bortolato M, Chen K, Shih JC : Monoamine oxidase inactivation: from pathophysiology to therapeutics. Adv Drug Deliv Rev 2008; 60: 1527\u20131533.","journal-title":"Adv Drug Deliv Rev"},{"key":"BFejhg201041_CR3","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1093\/hmg\/4.suppl_1.1729","volume":"4","author":"ZY Chen","year":"1995","unstructured":"Chen ZY, Denney RM, Breakefield XO : Norrie disease and MAO genes: nearest neighbors. Hum Mol Genet 1995; 4: 1729\u20131737.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201041_CR4","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/0888-7543(89)90279-6","volume":"4","author":"NC Lan","year":"1989","unstructured":"Lan NC, Heinzmann C, Gal A et al: Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease. Genomics 1989; 4: 552\u2013559.","journal-title":"Genomics"},{"key":"BFejhg201041_CR5","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/S0161-813X(03)00095-0","volume":"25","author":"A Nicotra","year":"2004","unstructured":"Nicotra A, Pierucci F, Parvez H, Senatori O : Monoamine oxidase expression during development and aging. Neurotoxicology 2004; 25: 155\u2013165.","journal-title":"Neurotoxicology"},{"key":"BFejhg201041_CR6","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1146\/annurev.neuro.22.1.197","volume":"22","author":"JC Shih","year":"1999","unstructured":"Shih JC, Chen K, Ridd MJ : Monoamine oxidase: from genes to behavior. Annu Rev Neurosci 1999; 22: 197\u2013217.","journal-title":"Annu Rev Neurosci"},{"key":"BFejhg201041_CR7","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/S0161-813X(03)00113-X","volume":"25","author":"K Chen","year":"2004","unstructured":"Chen K : Organization of MAO A and MAO B promoters and regulation of gene expression. Neurotoxicology 2004; 25: 31\u201336.","journal-title":"Neurotoxicology"},{"key":"BFejhg201041_CR8","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1002\/humu.9204","volume":"22","author":"G Royer","year":"2003","unstructured":"Royer G, Hanein S, Raclin V et al: NDP gene mutations in 14 French families with Norrie disease. Hum Mutat 2003; 22: 499.","journal-title":"Hum Mutat"},{"key":"BFejhg201041_CR9","first-page":"705","volume":"11","author":"R Riveiro-Alvarez","year":"2005","unstructured":"Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A et al: Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Mol Vis 2005; 11: 705\u2013712.","journal-title":"Mol Vis"},{"key":"BFejhg201041_CR10","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1002\/humu.1380050403","volume":"5","author":"DE Schuback","year":"1995","unstructured":"Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB : Mutations in the Norrie disease gene. Hum Mutat 1995; 5: 285\u2013292.","journal-title":"Hum Mutat"},{"key":"BFejhg201041_CR11","unstructured":"Warburg M : Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol (Copenh) 1966; Suppl 89: 1\u201347."},{"key":"BFejhg201041_CR12","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1159\/000132282","volume":"42","author":"A Gal","year":"1986","unstructured":"Gal A, Wieringa B, Smeets DF, Bleeker-Wagemakers L, Ropers HH : Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenet Cell Genet 1986; 42: 219\u2013224.","journal-title":"Cytogenet Cell Genet"},{"key":"BFejhg201041_CR13","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1136\/jmg.25.2.73","volume":"25","author":"D Donnai","year":"1988","unstructured":"Donnai D, Mountford RC, Read AP : Norrie disease resulting from a gene deletion: clinical features and DNA studies. J Med Genet 1988; 25: 73\u201378.","journal-title":"J Med Genet"},{"key":"BFejhg201041_CR14","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1016\/0896-6273(89)90231-6","volume":"2","author":"KB Sims","year":"1989","unstructured":"Sims KB, de la Chapelle A, Norio R et al: Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron 1989; 2: 1069\u20131076.","journal-title":"Neuron"},{"key":"BFejhg201041_CR15","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1002\/ajmg.1320330415","volume":"33","author":"DP Zhu","year":"1989","unstructured":"Zhu DP, Antonarakis SE, Schmeckpeper BJ, Diergaarde PJ, Greb AE, Maumenee IH : Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. Am J Med Genet 1989; 33: 485\u2013488.","journal-title":"Am J Med Genet"},{"key":"BFejhg201041_CR16","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1002\/ajmg.1320420126","volume":"42","author":"FA Collins","year":"1992","unstructured":"Collins FA, Murphy DL, Reiss AL et al: Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am J Med Genet 1992; 42: 127\u2013134.","journal-title":"Am J Med Genet"},{"key":"BFejhg201041_CR17","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1002\/ajmg.a.31521","volume":"143","author":"L Rodriguez-Revenga","year":"2007","unstructured":"Rodriguez-Revenga L, Madrigal I, Alkhalidi LS et al: Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. Am J Med Genet A 2007; 143: 916\u2013920.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201041_CR18","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1172\/JCI118492","volume":"97","author":"JW Lenders","year":"1996","unstructured":"Lenders JW, Eisenhofer G, Abeling NG et al: Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest 1996; 97: 1010\u20131019.","journal-title":"J Clin Invest"},{"key":"BFejhg201041_CR19","first-page":"1032","volume":"52","author":"HG Brunner","year":"1993","unstructured":"Brunner HG, Nelen MR, van Zandvoort P et al: X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet 1993; 52: 1032\u20131039.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201041_CR20","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1126\/science.8211186","volume":"262","author":"HG Brunner","year":"1993","unstructured":"Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA : Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 1993; 262: 578\u2013580.","journal-title":"Science"},{"key":"BFejhg201041_CR21","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.ejmg.2009.06.003","volume":"52","author":"J Urquhart","year":"2009","unstructured":"Urquhart J, Black GCM, Clayton-Smith J : 4.5\u2009Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Gen 2009; 52: 454\u2013457.","journal-title":"Eur J Med Gen"},{"key":"BFejhg201041_CR22","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/ng1197-353","volume":"17","author":"RM Plenge","year":"1997","unstructured":"Plenge RM, Hendrich BD, Schwartz C et al: A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 1997; 17: 353\u2013356.","journal-title":"Nat Genet"},{"key":"BFejhg201041_CR23","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1038\/ng1393","volume":"36","author":"T Suzuki","year":"2004","unstructured":"Suzuki T, Delgado-Escueta AV, Aguan K et al: Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004; 36: 842\u2013849.","journal-title":"Nat Genet"},{"key":"BFejhg201041_CR24","doi-asserted-by":"publisher","first-page":"2137","DOI":"10.1212\/01.wnl.0000313149.73035.99","volume":"70","author":"MT Medina","year":"2008","unstructured":"Medina MT, Suzuki T, Alonso ME et al: Novel mutations in Myoclonin1\/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 2008; 70: 2137\u20132144.","journal-title":"Neurology"},{"key":"BFejhg201041_CR25","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1002\/ajmg.a.31531","volume":"143","author":"D Lev","year":"2007","unstructured":"Lev D, Weigl Y, Hasan M et al: A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Am J Med Genet A 2007; 143: 921\u2013924.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201041_CR26","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/1096-8628(20010415)100:1<52::AID-AJMG1214>3.0.CO;2-B","volume":"100","author":"K Yamada","year":"2001","unstructured":"Yamada K, Limprasert P, Ratanasukon M et al: Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. Am J Med Genet 2001; 100: 52\u201355.","journal-title":"Am J Med Genet"},{"key":"BFejhg201041_CR27","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1126\/science.7792602","volume":"268","author":"O Cases","year":"1995","unstructured":"Cases O, Seif I, Grimsby J et al: Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. Science 1995; 268: 1763\u20131766.","journal-title":"Science"},{"key":"BFejhg201041_CR28","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1038\/ng1097-206","volume":"17","author":"J Grimsby","year":"1997","unstructured":"Grimsby J, Toth M, Chen K et al: Increased stress response and beta-phenylethylamine in MAOB-deficient mice. Nat Genet 1997; 17: 206\u2013210.","journal-title":"Nat Genet"},{"key":"BFejhg201041_CR29","doi-asserted-by":"publisher","first-page":"39645","DOI":"10.1074\/jbc.M405550200","volume":"279","author":"K Chen","year":"2004","unstructured":"Chen K, Holschneider DP, Wu W, Rebrin I, Shih JC : A spontaneous point mutation produces monoamine oxidase A\/B knock-out mice with greatly elevated monoamines and anxiety-like behavior. J Biol Chem 2004; 279: 39645\u201339652.","journal-title":"J Biol Chem"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201041.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201041","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201041.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:01:37Z","timestamp":1684429297000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,19]]},"references-count":29,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["BFejhg201041"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2010.41","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,19]]}}}