Literature DB >> 35420351

Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome.

Jan K Focke1, Roland Veltkamp2,3, Peter Bauer4, Markus Kraemer2,5.   

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Year:  2022        PMID： 35420351     DOI： 10.1007/s00415-022-11111-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   6.682


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  14 in total

Review 1.  The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.

Authors:  Anna Bersano; Michela Morbin; Elisa Ciceri; Gloria Bedini; Peter Berlit; Michele Herold; Stefania Saccucci; Valeria Fugnanesi; Hannes Nordmeyer; Giuseppe Faragò; Mario Savoiardo; Franco Taroni; MariaRita Carriero; Battista Boncoraglio Giorgio; Laura Perucca; Luigi Caputi; Agostino Parati Eugenio; Markus Kraemer
Journal:  J Neurol Sci       Date:  2016-03-05       Impact factor: 3.181

2.  COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.

Authors:  Kristiina Rannikmäe; Vhinoth Sivakumaran; Henry Millar; Rainer Malik; Christopher D Anderson; Mike Chong; Tushar Dave; Guido J Falcone; Israel Fernandez-Cadenas; Jordi Jimenez-Conde; Arne Lindgren; Joan Montaner; Martin O'Donnell; Guillaume Paré; Farid Radmanesh; Natalia S Rost; Agnieszka Slowik; Martin Söderholm; Matthew Traylor; Sara L Pulit; Sudha Seshadri; Brad B Worrall; Daniel Woo; Hugh S Markus; Braxton D Mitchell; Martin Dichgans; Jonathan Rosand; Cathie L M Sudlow
Journal:  Neurology       Date:  2017-09-27       Impact factor: 9.910

3.  Notch3 overexpression promotes anoikis resistance in epithelial ovarian cancer via upregulation of COL4A2.

Authors:  Caitlin W Brown; Alexander S Brodsky; Richard N Freiman
Journal:  Mol Cancer Res       Date:  2014-08-28       Impact factor: 5.852

4.  Characteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases.

Authors:  Ezgi Yilmaz; Ethem Murat Arsava; Rahşan Gocmen; Kader Karli Oguz; Anil Arat; Mehmet Akif Topcuoglu
Journal:  Neurol Sci       Date:  2020-10-13       Impact factor: 3.307

5.  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

Review 6.  Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.

Authors:  I Volonghi; A Pezzini; E Del Zotto; A Giossi; P Costa; D Ferrari; A Padovani
Journal:  Curr Med Chem       Date:  2010       Impact factor: 4.530

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 8.  Sneddon's syndrome: a comprehensive review of the literature.

Authors:  Shengjun Wu; Ziqi Xu; Hui Liang
Journal:  Orphanet J Rare Dis       Date:  2014-12-31       Impact factor: 4.123

Review 9.  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

10.  A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.

Authors:  Elli Katharine Greisenegger; Sara Llufriu; Angel Chamorro; Alvaro Cervera; Adriano Jimenez-Escrig; Klemens Rappersberger; Wolfgang Marik; Stefan Greisenegger; Elisabeth Stögmann; Tamara Kopp; Tim M Strom; Jörg Henes; Anne Joutel; Alexander Zimprich
Journal:  J Neurol       Date:  2020-09-26       Impact factor: 4.849
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