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Page 1
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. Dobyns WB, et al. Am J Med Genet. 1999 Oct 8;86(4):331-7. Am J Med Genet. 1999. PMID: 10494089 Review.
Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalam …
Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a poste …
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M, Dobyns WB. Kato M, et al. J Child Neurol. 2005 Apr;20(4):392-7. doi: 10.1177/08830738050200042001. J Child Neurol. 2005. PMID: 15921244
X-linked lissencephaly with abnormal genitalia is the first human disorder in which deficient tangential migration in the brain has been demonstrated. ...In human X-linked lissencephaly with abnormal genitalia, …
X-linked lissencephaly with abnormal genitalia is the first human disorder in which deficient tangential …
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gélot A. Bonneau D, et al. Ann Neurol. 2002 Mar;51(3):340-9. doi: 10.1002/ana.10119. Ann Neurol. 2002. PMID: 11891829
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome responsible for a severe neurological disorder of neonatal onset in boys. Based on the observations of 3 new cases, we confirm the phenotype in af …
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome respon …
[Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia].
Guo J, Tian Y, Wang H, Wang J, Fan X, Xu F, Shang L, Zhang X. Guo J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1134-1139. doi: 10.3760/cma.j.cn511374-20220603-00380. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37643961 Chinese.
OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG). METHODS: A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in …
OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with ab …
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
Coman D, Fullston T, Shoubridge C, Leventer R, Wong F, Nazaretian S, Simpson I, Gecz J, McGillivray G. Coman D, et al. Child Neurol Open. 2017 Nov 7;4:2329048X17738625. doi: 10.1177/2329048X17738625. eCollection 2017 Jan-Dec. Child Neurol Open. 2017. PMID: 29152528 Free PMC article.
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. ...
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an …
ARX mutations in X-linked lissencephaly with abnormal genitalia.
Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. Neurology. 2003. PMID: 12874405
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. ...
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with …
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. Kitamura K, et al. Nat Genet. 2002 Nov;32(3):359-69. doi: 10.1038/ng1009. Epub 2002 Oct 15. Nat Genet. 2002. PMID: 12379852
These mice also showed aberrant migration and differentiation of interneurons containing gamma-aminobutyric acid (GABAergic interneurons) in the ganglionic eminence and neocortex as well as abnormal testicular differentiation. These characteristics recapitulate some of the …
These mice also showed aberrant migration and differentiation of interneurons containing gamma-aminobutyric acid (GABAergic interneurons) in …
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).
Miyata R, Hayashi M, Miyai K, Akashi T, Kato M, Kohyama J. Miyata R, et al. Brain Dev. 2009 Jun;31(6):456-60. doi: 10.1016/j.braindev.2008.08.008. Epub 2008 Oct 7. Brain Dev. 2009. PMID: 18842366
X-linked lissencephaly with abnormal genitalia (XLAG) is characterized by lissencephaly, absent corpus callosum and ambiguous genitalia. ...A 1-year-old boy showed intractable epilepsy, persistent diarrhea and disturbed temperature regula …
X-linked lissencephaly with abnormal genitalia (XLAG) is characterized by lissencephaly, absent corpus ca …
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.
Jagła M, Kruczek P, Kwinta P. Jagła M, et al. J Clin Ultrasound. 2008 Jul-Aug;36(6):387-90. doi: 10.1002/jcu.20473. J Clin Ultrasound. 2008. PMID: 18412232
X-linked lissencephaly with ambiguous genitalia syndrome (XLAG) (OMIM #3000215) is a rare, severe malformation of the brain cortex with abnormal neuronal migration caused by mutations of the ARX gene. ...
X-linked lissencephaly with ambiguous genitalia syndrome (XLAG) (OMIM #3000215) is a rare, severe malformation o …
[ARX--one gene--many phenotypes].
Lisik M, Sieroń AL. Lisik M, et al. Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Neurol Neurochir Pol. 2008. PMID: 18975239 Review. Polish.
Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrom …
Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly …
49 results