Literature DB >> 29282339

COL4A1 and fetal vascular origins of schizencephaly.

Roha Khalid1, Pradeep Krishnan1, Kathleen Andres1, Susan Blaser1, Steven Miller1, Mahendranath Moharir1, Nomazulu Dlamini2.   

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Year:  2017        PMID： 29282339      PMCID： PMC5791794          DOI： 10.1212/WNL.0000000000004890

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips.

Authors:  P I YAKOVLEV; R C WADSWORTH
Journal:  J Neuropathol Exp Neurol       Date:  1946-04       Impact factor: 3.685

2.  Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Authors:  Douglas B Gould; F Campbell Phalan; Guido J Breedveld; Saskia E van Mil; Richard S Smith; John C Schimenti; Umberto Aguglia; Marjo S van der Knaap; Peter Heutink; Simon W M John
Journal:  Science       Date:  2005-05-20       Impact factor: 47.728

3.  Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

Authors:  Cynthia J Curry; Edward J Lammer; Verne Nelson; Gary M Shaw
Journal:  Am J Med Genet A       Date:  2005-08-30       Impact factor: 2.802

4.  Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Authors:  Yuriko Yoneda; Kazuhiro Haginoya; Mitsuhiro Kato; Hitoshi Osaka; Kenji Yokochi; Hiroshi Arai; Akiyoshi Kakita; Takamichi Yamamoto; Yoshiro Otsuki; Shin-ichi Shimizu; Takahito Wada; Norihisa Koyama; Yoichi Mino; Noriko Kondo; Satoru Takahashi; Shinichi Hirabayashi; Jun-ichi Takanashi; Akihisa Okumura; Toshiyuki Kumagai; Satori Hirai; Makoto Nabetani; Shinji Saitoh; Ayako Hattori; Mami Yamasaki; Akira Kumakura; Yoshinobu Sugo; Kiyomi Nishiyama; Satoko Miyatake; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Ann Neurol       Date:  2012-12-07       Impact factor: 10.422

5.  Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development.

Authors:  Maria Augusta Montenegro; Marilisa M Guerreiro; Iscia Lopes-Cendes; Carlos A M Guerreiro; Fernando Cendes
Journal:  Arch Neurol       Date:  2002-07

6.  Schizencephaly in infants with thrombophilia.

Authors:  Helly Goez; Nathanel Zelnik
Journal:  J Child Neurol       Date:  2009-01-23       Impact factor: 1.987

Review 7.  The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Authors:  Marije E C Meuwissen; Dicky J J Halley; Liesbeth S Smit; Maarten H Lequin; Jan M Cobben; René de Coo; Jeske van Harssel; Suzanne Sallevelt; Gwendolyn Woldringh; Marjo S van der Knaap; Linda S de Vries; Grazia M S Mancini
Journal:  Genet Med       Date:  2015-02-26       Impact factor: 8.822
  7 in total
  1 in total

Review 1.  Genetic Profiling of Idiopathic Antenatal Intracranial Haemorrhage: What We Know?

Authors:  Anna Franca Cavaliere; Irene Turrini; Marta Pallottini; Annalisa Vidiri; Laura Marchi; Federica Perelli; Simona Zaami; Giovanni Scambia; Fabrizio Signore
Journal:  Genes (Basel)       Date:  2021-04-15       Impact factor: 4.096
  1 in total

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