Literature DB >> 16761289

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.

Céline de La Rochebrochard, Géraldine Joly-Hélas, Alice Goldenberg, Isabelle Durand, Annie Laquerrière, Valentine Ickowicz, Pascale Saugier-Veber, Danièle Eurin, Hélène Moirot, Alain Diguet, Fabrice de Kergal, Coralie Tiercin, Bertrand Mace, Loïc Marpeau, Thierry Frebourg.   

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Year:  2006        PMID： 16761289     DOI： 10.1002/ajmg.a.31227

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


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  25 in total

1.  22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature.

Authors:  Aderonke Oyetunji; Merlin G Butler
Journal:  J Pediatr Genet       Date:  2020-01-10

2.  Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

Authors:  Justine Coppinger; Donna McDonald-McGinn; Elaine Zackai; Kate Shane; Joan F Atkin; Alexander Asamoah; Robert Leland; David D Weaver; Susan Lansky-Shafer; Karen Schmidt; Heidi Feldman; William Cohen; Judy Phalin; Berkley Powell; Blake C Ballif; Aaron Theisen; Elizabeth Geiger; Chad Haldeman-Englert; Tamim H Shaikh; Sulagna Saitta; Bassem A Bejjani; Lisa G Shaffer
Journal:  Hum Mol Genet       Date:  2009-02-03       Impact factor: 6.150

3.  22q11.2 Microduplication: An Enigmatic Genetic Disorder.

Authors:  Ranjit I Kylat
Journal:  J Pediatr Genet       Date:  2018-05-18

4.  Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Authors:  Dong Li; Christopher T Gordon; Myriam Oufadem; Jeanne Amiel; Harsh S Kanwar; Marina Bakay; Tiancheng Wang; Hakon Hakonarson; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2018-11-01       Impact factor: 5.958

5.  Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.

Authors:  Ruixue Cao; Sijie Liu; Chunjie Liu; Sun Chen; Fen Li; Kun Sun; Rang Xu
Journal:  Pediatr Cardiol       Date:  2017-12-26       Impact factor: 1.655

6.  Detection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18.

Authors:  Donald E Turbiville; Hai Wu; Jianli Dong
Journal:  Lab Med       Date:  2017-11-08

7.  Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder.

Authors:  Richard Delorme; Daniel Moreno-De-Luca; Aurélie Gennetier; Wolfgang Maier; Pauline Chaste; Rainald Mössner; Hans Jörgen Grabe; Stephan Ruhrmann; Peter Falkai; Marie-Christine Mouren; Marion Leboyer; Michael Wagner; Catalina Betancur
Journal:  BMC Med Genet       Date:  2010-06-21       Impact factor: 2.103

8.  Karyotype versus microarray testing for genetic abnormalities after stillbirth.

Authors:  Uma M Reddy; Grier P Page; George R Saade; Robert M Silver; Vanessa R Thorsten; Corette B Parker; Halit Pinar; Marian Willinger; Barbara J Stoll; Josefine Heim-Hall; Michael W Varner; Robert L Goldenberg; Radek Bukowski; Ronald J Wapner; Carolyn D Drews-Botsch; Barbara M O'Brien; Donald J Dudley; Brynn Levy
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

9.  Detailed analysis of 22q11.2 with a high density MLPA probe set.

Authors:  G R Jalali; J A S Vorstman; Ab Errami; R Vijzelaar; J Biegel; T Shaikh; B S Emanuel
Journal:  Hum Mutat       Date:  2008-03       Impact factor: 4.878

Review 10.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
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