Literature DB >> 10982975

X-linked lissencephaly with ambiguous genitalia: delineation of further case.

T Ogata, N Matsuo, N Hiraoka, J I Hata.   

Abstract

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Year:  2000        PMID： 10982975     DOI： 10.1002/1096-8628(20000911)94:2<174::aid-ajmg11>3.0.co;2-o

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

Review 1.  The Rhox genes.

Authors:  James A MacLean; Miles F Wilkinson
Journal:  Reproduction       Date:  2010-04-29       Impact factor: 3.906

2.  Fetal and neonatal MRI features of ARX-related lissencephaly presenting with neonatal refractory seizure disorder.

Authors:  Sara Ffrench-Constant; Carolina Kachramanoglou; Brynmor Jones; Nigel Basheer; Nikolaos Syrmos; Mario Ganau; Wajanat Jan
Journal:  Quant Imaging Med Surg       Date:  2019-11

3.  Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

Authors:  Gaëlle Friocourt; John G Parnavelas
Journal:  Front Cell Neurosci       Date:  2010-03-11       Impact factor: 5.505

Review 4.  Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Authors:  Gaëlle Friocourt; Pascale Marcorelles; Pascale Saugier-Veber; Marie-Lise Quille; Stephane Marret; Annie Laquerrière
Journal:  Acta Neuropathol       Date:  2010-11-03       Impact factor: 17.088

5.  Aristaless related homeobox gene, Arx, is implicated in mouse fetal Leydig cell differentiation possibly through expressing in the progenitor cells.

Authors:  Kanako Miyabayashi; Yuko Katoh-Fukui; Hidesato Ogawa; Takashi Baba; Yuichi Shima; Noriyuki Sugiyama; Kunio Kitamura; Ken-ichirou Morohashi
Journal:  PLoS One       Date:  2013-06-28       Impact factor: 3.240

6.  X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

Authors:  David Coman; Tom Fullston; Cheryl Shoubridge; Richard Leventer; Flora Wong; Simon Nazaretian; Ian Simpson; Josef Gecz; George McGillivray
Journal:  Child Neurol Open       Date:  2017-11-07
  6 in total

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