Literature DB >> 12794708

Patient with a deletion of chromosome 21q and minimal phenotype.

Hilary Tinkel-Vernon, Scott Finkernagel, Franklin Desposito, Carol Pittore, Kathleen Reynolds, Leonard Sciorra.   

Abstract

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Year:  2003        PMID： 12794708     DOI： 10.1002/ajmg.a.10210

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Genomic analysis of partial 21q monosomies with variable phenotypes.

Authors:  Elisha D O Roberson; Elizabeth Squibb Wohler; Julie E Hoover-Fong; Emily Lisi; Eric L Stevens; George H Thomas; Jay Leonard; Ada Hamosh; Jonathan Pevsner
Journal:  Eur J Hum Genet       Date:  2010-09-08       Impact factor: 4.246

2.  Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

Authors:  Véronique Brault; Arnaud Duchon; Caroline Romestaing; Ignasi Sahun; Stéphanie Pothion; Mona Karout; Christelle Borel; Doulaye Dembele; Jean-Charles Bizot; Nadia Messaddeq; Andrew J Sharp; Damien Roussel; Stylianos E Antonarakis; Mara Dierssen; Yann Hérault
Journal:  PLoS Genet       Date:  2015-03-24       Impact factor: 5.917

3.  Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition.

Authors:  Anna M Migdalska; Louise van der Weyden; Ozama Ismail; Jacqueline K White; Gabriela Sánchez-Andrade; Darren W Logan; Mark J Arends; David J Adams
Journal:  PLoS One       Date:  2012-01-20       Impact factor: 3.240

4.  Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.

Authors:  Valentine Marquet; Dominique Bourgeois; Philippe De Mas; Laurence Bouneau; Adeline Vigouroux-Castera; Romain Molignier; Patrick Calvas
Journal:  Clin Case Rep       Date:  2015-08-20

Review 5.  Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2016-01-28       Impact factor: 2.009

6.  Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

Authors:  Edoardo Errichiello; Francesca Novara; Anna Cremante; Annapia Verri; Jessica Galli; Elisa Fazzi; Daniela Bellotti; Laura Losa; Mariangela Cisternino; Orsetta Zuffardi
Journal:  Mol Cytogenet       Date:  2016-02-24       Impact factor: 2.009
  6 in total

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