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Quoted phrase not found in phrase index: "Corpus callosum agenesis-abnormal genitalia syndrome"
Page 1
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. ...Polymicrogyri …
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissence …
Fryns syndrome: report on 8 new cases.
Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.
Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). ...When the brain was examined, more than half were abnormal (Dandy-Walker anomaly and agenesis of corpus callosum …
Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immat …
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.
Spinosa MJ, Liberalesso PB, Vieira SC, Olmos AS, Löhr A Jr. Spinosa MJ, et al. Arq Neuropsiquiatr. 2006 Dec;64(4):1023-6. doi: 10.1590/s0004-282x2006000600027. Arq Neuropsiquiatr. 2006. PMID: 17221017 Free article.
Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. ...MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventri …
Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcep …
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 …
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.
Chen CP, Su YN, Chen YY, Chern SR, Liu YP, Wu PC, Lee CC, Chen YT, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2011 Sep;50(3):345-52. doi: 10.1016/j.tjog.2011.07.014. Taiwan J Obstet Gynecol. 2011. PMID: 22030051 Free article.
OBJECTIVE: To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction and to review the literature …
OBJECTIVE: To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome with NFIA haploinsufficiency, ventriculomegaly, …
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
Oegema R, Maat-Kievit A, Lequin MH, Schot R, Nanninga-van den Neste VM, Doornbos ME, de Wit MC, Halley DJ, Mancini GM. Oegema R, et al. Am J Med Genet A. 2012 Jun;158A(6):1472-6. doi: 10.1002/ajmg.a.35365. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585566
Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability. ...We report on a male patient born with cleft lip and palate who prese …
Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia …
Primary hypogonadism in a case with XLAG syndrome.
Özdemir ÖM, Cağlar M, Koçyiğit A, Dündar NO, Sangün Ö, Dündar B. Özdemir ÖM, et al. J Pediatr Endocrinol Metab. 2012;25(11-12):1161-3. doi: 10.1515/jpem-2012-0266. J Pediatr Endocrinol Metab. 2012. PMID: 23329764
Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, microcephaly, and male genotype with ambiguous genitalia. ...On phy …
Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the c …
A case of Kallmann syndrome associated with Dandy-Walker malformation.
Ueno H, Yamaguchi H, Katakami H, Matsukura S. Ueno H, et al. Exp Clin Endocrinol Diabetes. 2004 Jan;112(1):62-7. doi: 10.1055/s-2004-815728. Exp Clin Endocrinol Diabetes. 2004. PMID: 14758574
Magnetic resonance imaging (MRI) showed a cystic distension of the IV ventricle, partial aplasia of the cerebellar vermis, elevation of the tentorium cerebelli, enlargement of the III ventricle, and agenesis of the corpus callosum. These findings revealed that the p …
Magnetic resonance imaging (MRI) showed a cystic distension of the IV ventricle, partial aplasia of the cerebellar vermis, elevation of the …
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
Tasdemir S, Sahin I, Morris-Rosendahl DJ, Marzioglu E, Cayir A, Yuce I, Tatar A. Tasdemir S, et al. Genet Couns. 2015;26(4):415-23. Genet Couns. 2015. PMID: 26852512
Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, intellectual disabili …
Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microce …
16 results