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Literature DB >> 9973528

A novel 22q11.2 microdeletion in DiGeorge syndrome.

A Rauch, R A Pfeiffer, G Leipold, H Singer, M Tigges, M Hofbeck.

Abstract

Entities: Disease

Mesh：

Year: 1999 PMID： 9973528 PMCID： PMC1377781 DOI： 10.1086/302235

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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25 in total

1. Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.

Authors: M C Lanasa; W A Hogge; C Kubik; J Blancato; E P Hoffman
Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025

2. Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Authors: J Wincent; D L Bruno; B W M van Bon; A Bremer; H Stewart; E M H F Bongers; C W Ockeloen; M H Willemsen; D D A Keays; G Baird; D F Newbury; T Kleefstra; C Marcelis; U Kini; Z Stark; R Savarirayan; L J Sheffield; O Zuffardi; H R Slater; B B de Vries; S J L Knight; B-M Anderlid; J Schoumans
Journal: Mol Syndromol Date: 2011-05-18

3. Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Authors: Marco Venturin; Cristina Gervasini; Francesca Orzan; Angela Bentivegna; Lucia Corrado; Patrizia Colapietro; Alessandra Friso; Romano Tenconi; Meena Upadhyaya; Lidia Larizza; Paola Riva
Journal: Hum Genet Date: 2004-04-21 Impact factor: 4.132

4. 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

5. Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function.

Authors: Ivy S Samuels; J Colleen Karlo; Alicia N Faruzzi; Kathryn Pickering; Karl Herrup; J David Sweatt; Sulagna C Saitta; Gary E Landreth
Journal: J Neurosci Date: 2008-07-02 Impact factor: 6.167

6. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Authors: K Osoegawa; G M Vessere; K H Utami; M A Mansilla; M K Johnson; B M Riley; J L'Heureux; R Pfundt; J Staaf; W A van der Vliet; A C Lidral; E F P M Schoenmakers; A Borg; B C Schutte; E J Lammer; J C Murray; P J de Jong
Journal: J Med Genet Date: 2007-09-14 Impact factor: 6.318

7. Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development.

Authors: Jason Newbern; Jian Zhong; Rasika S Wickramasinghe; Xiaoyan Li; Yaohong Wu; Ivy Samuels; Natalie Cherosky; J Colleen Karlo; Brianne O'Loughlin; Jamie Wikenheiser; Madhusudhana Gargesha; Yong Qiu Doughman; Jean Charron; David D Ginty; Michiko Watanabe; Sulagna C Saitta; William D Snider; Gary E Landreth
Journal: Proc Natl Acad Sci U S A Date: 2008-10-24 Impact factor: 11.205