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Quoted phrase not found in phrase index: "Corpus callosum agenesis-abnormal genitalia syndrome"
Page 1
Genetic malformations of cortical development.
Guerrini R, Marini C. Guerrini R, et al. Exp Brain Res. 2006 Aug;173(2):322-33. doi: 10.1007/s00221-006-0501-z. Epub 2006 May 25. Exp Brain Res. 2006. PMID: 16724181 Review.
Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in g …
Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with …
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH. Sherr EH. Curr Opin Pediatr. 2003 Dec;15(6):567-71. doi: 10.1097/00008480-200312000-00004. Curr Opin Pediatr. 2003. PMID: 14631200 Review.
RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms o …
RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with sp …
Leukodystrophy with disorders of sex development due to WT1 mutations.
Souza PVS, Badia BML, Silva LHL, Teixeira CAC, Seneor DD, Marin VDGB, Farias IB, Dias RB, Oliveira ASB, Pinto WBVR. Souza PVS, et al. J Neurol Sci. 2018 Jul 15;390:94-98. doi: 10.1016/j.jns.2018.04.020. Epub 2018 Apr 13. J Neurol Sci. 2018. PMID: 29801916
RESULTS: All described patients presented with similar neuroimaging features including thin corpus callosum, mild to moderate cerebellar atrophy and diffuse periventricular and profound hypomyelinating leukodystrophy involving supratentorial white matter with classi …
RESULTS: All described patients presented with similar neuroimaging features including thin corpus callosum, mild to moderate …
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918
We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). ...Together, the group of phenotypes associated wi …
We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in se …
Pregnancy after hysteroscopic endometrial ablation without endometrial preparation: a report of five cases and a literature review.
Yin CS. Yin CS. Taiwan J Obstet Gynecol. 2010 Sep;49(3):311-9. doi: 10.1016/S1028-4559(10)60067-8. Taiwan J Obstet Gynecol. 2010. PMID: 21056317 Free article. Review.
Five babies had congenital anomalies, including craniosynostosis (1 case), a set of twins with Down syndrome (1 case), agenesis of the corpus callosum (1 case), bilateral talipes (1 case), and one case of fetal malformation caused by intrauterine synechiae. . …
Five babies had congenital anomalies, including craniosynostosis (1 case), a set of twins with Down syndrome (1 case), agenesis of th …
Partial agenesis of corpus callosum in LEOPARD syndrome.
Bonioli E, Di Stefano A, Costabel S, Bellini C. Bonioli E, et al. Int J Dermatol. 1999 Nov;38(11):855-62. doi: 10.1046/j.1365-4362.1999.00834.x. Int J Dermatol. 1999. PMID: 10583620 No abstract available.
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G. L'Herminé AC, et al. Prenat Diagn. 2003 Nov;23(11):938-43. doi: 10.1002/pd.732. Prenat Diagn. 2003. PMID: 14634983
Prader-Willi syndrome (PWS) results from either paternal deletion of 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. ...Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external …
Prader-Willi syndrome (PWS) results from either paternal deletion of 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15 …
Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan.
Matin MA, Sylvester PE. Matin MA, et al. J Ment Defic Res. 1980 Mar;24(1):1-16. doi: 10.1111/j.1365-2788.1980.tb00052.x. J Ment Defic Res. 1980. PMID: 7381930
A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental retardation, aminoaciduria, proteinuria, rickets, areflexia, genu valgum, piercing cry and head-banging being among the presenting features. …
A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental …