Literature DB >> 17726482

Deletions that reveal recessive genes.

David J Coman, R J McKinlay Gardner.   

Abstract

Mesh：

Year:  2007        PMID： 17726482     DOI： 10.1038/sj.ejhg.5201919

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

1.  Beware of Hemizygous Deletions That May Unmask Deleterious Variants.

Authors:  M Poot
Journal:  Mol Syndromol       Date:  2012-07-05

2.  Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Authors:  Jaime J Barea; Eline van Meel; Stuart Kornfeld; Lynne M Bird
Journal:  Am J Med Genet A       Date:  2015-06-24       Impact factor: 2.802

3.  Discovery of variants unmasked by hemizygous deletions.

Authors:  Ron Hochstenbach; Martin Poot; Isaac J Nijman; Ivo Renkens; Karen J Duran; Ruben Van't Slot; Ellen van Binsbergen; Bert van der Zwaag; Maartje J Vogel; Paulien A Terhal; Hans Kristian Ploos van Amstel; Wigard P Kloosterman; Edwin Cuppen
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

4.  An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Authors:  Céline Pebrel-Richard; Anne Debost-Legrand; Eléonore Eymard-Pierre; Victoria Greze; Stéphan Kemeny; Mathilde Gay-Bellile; Laetitia Gouas; Andreï Tchirkov; Philippe Vago; Carole Goumy; Christine Francannet
Journal:  Eur J Hum Genet       Date:  2013-07-17       Impact factor: 4.246

5.  Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Authors:  Gordana Raca; Craig A Jackson; Laimutis Kucinskas; Berta Warman; Joseph T C Shieh; Adele Schneider; Tanya M Bardakjian; Lisa A Schimmenti
Journal:  Genet Med       Date:  2011-05       Impact factor: 8.822

6.  Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Authors:  Lisa G Shaffer; Mindy P Dabell; Allan J Fisher; Justine Coppinger; Anne M Bandholz; Jay W Ellison; J Britt Ravnan; Beth S Torchia; Blake C Ballif; Jill A Rosenfeld
Journal:  Prenat Diagn       Date:  2012-08-02       Impact factor: 3.050

7.  1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Authors:  Natália Duarte Linhares; Maíra Cristina Menezes Freire; Raony Guimarães Corrêa do Carmo Lisboa Cardenas; Heloisa Barbosa Pena; Katherine Lachlan; Bruno Dallapiccola; Carlos Bacino; Bruno Delobel; Paul James; Ann-Charlotte Thuresson; Göran Annerén; Sérgio D J Pena
Journal:  Genet Mol Biol       Date:  2016-08-04       Impact factor: 1.771

8.  Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.

Authors:  Monika Szelest; Martyna Stefaniak; Gabriela Ręka; Ilona Jaszczuk; Monika Lejman
Journal:  BMC Med Genomics       Date:  2021-03-10       Impact factor: 3.063
  8 in total

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