Literature DB >> 1821304

Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome.

M M Cohen1, S Kreiborg.   

Abstract

Agenesis of the corpus callosum may be associated with a variety of central nervous system (CNS) and non-CNS abnormalities and is known to occur in a number of specific syndromes. It can be a marker for several inherited metabolic disorders. Study of the Apert syndrome shows a recurrent pattern of CNS abnormalities, including defects of the corpus callosum and limbic structures, megalencephaly, misshapen brain, distortion ventriculomegaly, and gyral anomalies.

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Year:  1991        PMID: 1821304

Source DB:  PubMed          Journal:  Neurosurg Clin N Am        ISSN: 1042-3680            Impact factor:   2.509


  6 in total

1.  Postnatal brain and skull growth in an Apert syndrome mouse model.

Authors:  Cheryl A Hill; Neus Martínez-Abadías; Susan M Motch; Jordan R Austin; Yingli Wang; Ethylin Wang Jabs; Joan T Richtsmeier; Kristina Aldridge
Journal:  Am J Med Genet A       Date:  2013-03-12       Impact factor: 2.802

2.  Brain phenotypes in two FGFR2 mouse models for Apert syndrome.

Authors:  Kristina Aldridge; Cheryl A Hill; Jordan R Austin; Christopher Percival; Neus Martinez-Abadias; Thomas Neuberger; Yingli Wang; Ethylin Wang Jabs; Joan T Richtsmeier
Journal:  Dev Dyn       Date:  2010-03       Impact factor: 3.780

3.  Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.

Authors:  Susan M Motch Perrine; Tim Stecko; Thomas Neuberger; Ethylin W Jabs; Timothy M Ryan; Joan T Richtsmeier
Journal:  Front Hum Neurosci       Date:  2017-07-25       Impact factor: 3.169

4.  Apert syndrome: A case report and review of the literature.

Authors:  Tuba Tulay Koca
Journal:  North Clin Istanb       Date:  2016-05-14

5.  Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.

Authors:  Erika Yeh; Roberto D Fanganiello; Daniele Y Sunaga; Xueyan Zhou; Gregory Holmes; Katia M Rocha; Nivaldo Alonso; Hamilton Matushita; Yingli Wang; Ethylin W Jabs; Maria Rita Passos-Bueno
Journal:  PLoS One       Date:  2013-04-04       Impact factor: 3.240

6.  NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Authors:  Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S Alkuraya; Diana J Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G Campbell; Alan L Shanske; Elliott H Sherr; Ayesha Ahmad; Roxana Peters; Benedict Rilliet; Paloma Parvex; Alexander G Bassuk; David J Harris; Heather Ferguson; Chantal Kelly; Christopher A Walsh; Richard M Gronostajski; Koenraad Devriendt; Anne Higgins; Azra H Ligon; Bradley J Quade; Cynthia C Morton; James F Gusella; Richard L Maas
Journal:  PLoS Genet       Date:  2007-05-25       Impact factor: 5.917

  6 in total

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