首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
X-linked lissencephaly syndrome with abnormal genitalia相关文献:
Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia.
PMID:
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
PMID:
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.
Child Neurol Open. 2017 Nov 7;4:2329048X17738625. doi: 10.1177/2329048X17738625. eCollection 2017 Jan-Dec.
PMID:29152528
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M, Dobyns WB.
J Child Neurol. 2005 Apr;20(4):392-7. doi: 10.1177/08830738050200042001.
PMID:15921244
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D.
Am J Med Genet. 1999 Oct 8;86(4):331-7.
PMID:10494089
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.
Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba.
PMID:12874405
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.
Nat Genet. 2002 Nov;32(3):359-69. doi: 10.1038/ng1009. Epub 2002 Oct 15.
PMID:12379852
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.
Jagła M, Kruczek P, Kwinta P.
J Clin Ultrasound. 2008 Jul-Aug;36(6):387-90. doi: 10.1002/jcu.20473.
PMID:18412232
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.
Ann Neurol. 2002 Mar;51(3):340-9. doi: 10.1002/ana.10119.
PMID:11891829
X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.
Hahn A, Gross C, Uyanik G, Hehr U, Hügens-Penzel M, Alzen G, Neubauer BA.
Neuropediatrics. 2004 Jun;35(3):202-5. doi: 10.1055/s-2004-817955.
PMID:15248105
X-linked malformations of cortical development.
Leventer RJ, Mills PL, Dobyns WB.
Am J Med Genet. 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W.
PMID:11449490
Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia.
Tumgor G, Agin M.
Minerva Pediatr. 2015 Aug;67(4):379.
PMID:26129807
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3