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Literature DB >> 10417299

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

S C Saitta, J M McGrath, H Mensch, T H Shaikh, E H Zackai, B S Emanuel.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1999 PMID： 10417299 PMCID： PMC1377955 DOI： 10.1086/302514

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

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27 in total

1. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Authors: T H Shaikh; M L Budarf; L Celle; E H Zackai; B S Emanuel
Journal: Am J Hum Genet Date: 1999-12 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. Delineating Rearrangements in Single Yeast Artificial Chromosomes by Quantitative DNA Fiber Mapping.

Authors: Heinz-Ulrich G Weier; Karin M Greulich-Bode; Jenny Wu; Thomas Duell
Journal: Open Genomics J Date: 2009-10-09

4. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.

Authors: Rosanna Weksberg; Andrea C Stachon; Jeremy A Squire; Laura Moldovan; Jane Bayani; Stephen Meyn; Eva Chow; Anne S Bassett
Journal: Hum Genet Date: 2006-10-07 Impact factor: 4.132

5. 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

6. 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

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