Literature DB >> 22223490

Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.

K D Lichtenbelt, L R Pistorius, S M De Tollenaer, G M Mancini, L S De Vries.   

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Year:  2012        PMID： 22223490     DOI： 10.1002/uog.11070

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN： 0960-7692            Impact factor:   7.299


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  13 in total

1.  Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation.

Authors:  Tadashi Matsumoto; Kei Miyakoshi; Marie Fukutake; Daigo Ochiai; Kazuhiro Minegishi; Mamoru Tanaka
Journal:  J Med Ultrason (2001)       Date:  2015-01-18       Impact factor: 1.314

2.  Basement membrane and stroke.

Authors:  Yao Yao
Journal:  J Cereb Blood Flow Metab       Date:  2018-09-18       Impact factor: 6.200

Review 3.  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

4.  Prenatal diagnosis and postnatal outcome of fetal intracranial hemorrhage.

Authors:  Mehmet Serdar Kutuk; Ali Yikilmaz; Mahmut Tuncay Ozgun; Mehmet Dolanbay; Mehmet Canpolat; Semih Uludag; Gulsum Uysal; Mustafa Tas; Karakukcu Musa
Journal:  Childs Nerv Syst       Date:  2013-08-02       Impact factor: 1.475

5.  Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

Authors:  Mehmet Serdar Kutuk; Burhan Balta; Hirofumi Kodera; Naomichi Matsumoto; Hirotomo Saitsu; Selim Doganay; Mehmet Canpolat; Mehmet Dolanbay; Ekrem Unal; Munis Dundar
Journal:  Childs Nerv Syst       Date:  2013-12-07       Impact factor: 1.475

6.  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

7.  Fetal intracerebral hemorrhage and cataract: think COL4A1.

Authors:  E Colin; L Sentilhes; A Sarfati; M Mine; A Guichet; C Ploton; F Boussion; B Delorme; E Tournier-Lasserve; D Bonneau
Journal:  J Perinatol       Date:  2014-01       Impact factor: 2.521

8.  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

9.  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

Review 10.  COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Authors:  Debbie S Kuo; Cassandre Labelle-Dumais; Douglas B Gould
Journal:  Hum Mol Genet       Date:  2012-08-21       Impact factor: 6.150
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