Literature DB >> 16470702

Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.

Anne-Marie Bisgaard1, Gija Rackauskaite, Thomas Thelle, Maria Kirchhoff, Thue Bryndorf.   

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Year:  2006        PMID: 16470702     DOI: 10.1002/ajmg.a.31130

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


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  7 in total

1.  A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations.

Authors:  Celine Chalas; Aline Receveur; Catherine Patrat; Francois Michael Petit; Nelly Frydman; Nathalie Massin; Gerard Tachdjian; Veronique Drouineaud; Alexandra Benachi
Journal:  Basic Clin Androl       Date:  2020-10-02

Review 2.  Shining a light on CNTNAP2: complex functions to complex disorders.

Authors:  Pedro Rodenas-Cuadrado; Joses Ho; Sonja C Vernes
Journal:  Eur J Hum Genet       Date:  2013-05-29       Impact factor: 4.246

3.  An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly.

Authors:  Trupti Kale; Melissa Philip
Journal:  Case Rep Genet       Date:  2016-12-08

Review 4.  Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review.

Authors:  Fagui Yue; Yuting Jiang; Yang Yu; Xiao Yang; Hongguo Zhang; Ruizhi Liu; Ruixue Wang
Journal:  Medicine (Baltimore)       Date:  2018-11       Impact factor: 1.889

5.  Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Authors:  Giuseppe Di Stolfo; Maria Accadia; Sandra Mastroianno; Maria P Leone; Orazio Palumbo; Pietro Palumbo; Domenico Potenza; Pasquale Maccarone; Michele Sacco; Aldo Russo; Massimo Carella
Journal:  Mol Genet Genomic Med       Date:  2019-07-25       Impact factor: 2.183

6.  Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

Authors:  Oscar Campuzano; Georgia Sarquella-Brugada; Irene Mademont-Soler; Catarina Allegue; Sergi Cesar; Carles Ferrer-Costa; Monica Coll; Jesus Mates; Anna Iglesias; Josep Brugada; Ramon Brugada
Journal:  PLoS One       Date:  2014-12-10       Impact factor: 3.240

7.  Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Authors:  Annette Uwineza; Jean-Hubert Caberg; Janvier Hitayezu; Anne Cecile Hellin; Mauricette Jamar; Vinciane Dideberg; Emmanuel K Rusingiza; Vincent Bours; Leon Mutesa
Journal:  BMC Med Genet       Date:  2014-07-12       Impact factor: 2.103

  7 in total

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