Literature DB >> 21357838

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.

M E C Meuwissen1, L S de Vries, H A Verbeek, M H Lequin, P P Govaert, R Schot, F M Cowan, R Hennekam, P Rizzu, F W Verheijen, M W Wessels, G M S Mancini.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21357838     DOI： 10.1212/WNL.0b013e31820e7751

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


× No keyword cloud information.
  16 in total

1.  Neonatal stroke and haematuria: Answers.

Authors:  Sally Kellett; Mathieu Lemaire; Steven P Miller; Christoph Licht; Grace Yoon; Nomazulu Dlamini; Damien Noone
Journal:  Pediatr Nephrol       Date:  2017-07-17       Impact factor: 3.714

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.  COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Authors:  Marion Jeanne; Cassandre Labelle-Dumais; Jeff Jorgensen; W Berkeley Kauffman; Grazia M Mancini; Jack Favor; Valerie Valant; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

Review 4.  Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Authors:  Marion Jeanne; Douglas B Gould
Journal:  Matrix Biol       Date:  2016-10-26       Impact factor: 11.583

5.  COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Authors:  Yi-Chinn Weng; Akshata Sonni; Cassandre Labelle-Dumais; Michelle de Leau; W Berkeley Kauffman; Marion Jeanne; Alessandro Biffi; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Ann Neurol       Date:  2012-04       Impact factor: 10.422

6.  Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Authors:  Robin Lemmens; Alessandra Maugeri; Hans W M Niessen; An Goris; Thomas Tousseyn; Philippe Demaerel; Anniek Corveleyn; Wim Robberecht; Marjo S van der Knaap; Vincent N Thijs; Petra J G Zwijnenburg
Journal:  Hum Mol Genet       Date:  2012-10-12       Impact factor: 6.150

7.  COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Authors:  Elly Verbeek; Marije E C Meuwissen; Frans W Verheijen; Paul P Govaert; Daniel J Licht; Debbie S Kuo; Cathryn J Poulton; Rachel Schot; Maarten H Lequin; Jeroen Dudink; Dicky J Halley; René I F de Coo; Jan C den Hollander; Renske Oegema; Douglas B Gould; Grazia M S Mancini
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

8.  Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Authors:  B Deml; L M Reis; M Maheshwari; C Griffis; D Bick; E V Semina
Journal:  Clin Genet       Date:  2014-04-12       Impact factor: 4.438

9.  Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Authors:  Gustavo Malinger; Aviva Fattal-Valevski; Moran Hausman-Kedem; Liat Ben-Sira; Debora Kidron; Shay Ben-Shachar; Rachel Straussberg; Daphna Marom; Penina Ponger; Anat Bar-Shira
Journal:  Eur J Hum Genet       Date:  2021-04-09       Impact factor: 4.246

10.  A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

Authors:  Domenico Umberto De Rose; Francesca Gallini; Domenica Immacolata Battaglia; Eloisa Tiberi; Simona Gaudino; Ilaria Contaldo; Chiara Veredice; Domenico Marco Romeo; Luca Massimi; Alessia Asaro; Cristina Cereda; Giovanni Vento; Eugenio Maria Mercuri
Journal:  Neurol Sci       Date:  2021-07-22       Impact factor: 3.307
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.