Literature DB >> 6615288

Familial porencephaly.

R A Berg, K A Aleck, A M Kaplan.   

Abstract

We studied familial porencephaly consistent with autosomal dominant or recessive inheritance in two families. The pathogenesis of the encephaloclastic and schizencephalic types was reviewed. Use of noninvasive neuroradiologic techniques, including computed tomography and ultrasonography, may help to delineate groups of children with smaller porencephalic cysts and to define further familial or genetic forms of this process.

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Mesh:

Year:  1983        PMID: 6615288     DOI: 10.1001/archneur.1983.04050080067013

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  7 in total

1.  Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

Authors:  Felippe Borlot; Brigid M Regan; Anne S Bassett; D James Stavropoulos; Danielle M Andrade
Journal:  JAMA Neurol       Date:  2017-11-01       Impact factor: 18.302

2.  De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Authors:  Yuriko Yoneda; Kazuhiro Haginoya; Hiroshi Arai; Shigeo Yamaoka; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kenji Yokochi; Hitoshi Osaka; Mitsuhiro Kato; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

3.  Familial porencephaly.

Authors:  N J Shastri; S A Bharani; U J Modi; C Trivedi
Journal:  Indian J Pediatr       Date:  1993 May-Jun       Impact factor: 1.967

4.  Porencephalic cyst in pycnodysostosis.

Authors:  J Figueiredo; A Reis; R Vaz; M Leáo; C Cruz
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

5.  Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Authors:  G Breedveld; I F de Coo; M H Lequin; W F M Arts; P Heutink; D B Gould; S W M John; B Oostra; G M S Mancini
Journal:  J Med Genet       Date:  2005-08-17       Impact factor: 6.318

6.  p53 Activity Dominates That of p73 upon Mdm4 Loss in Development and Tumorigenesis.

Authors:  Mehrnoosh Tashakori; Yun Zhang; Shunbin Xiong; M James You; Guillermina Lozano
Journal:  Mol Cancer Res       Date:  2015-11-02       Impact factor: 5.852

7.  Familial schizencephaly: further delineation of a rare disorder.

Authors:  F Haverkamp; K Zerres; B Ostertun; D Emons; M J Lentze
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

  7 in total

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