Literature DB >> 17931565

Complete DiGeorge syndrome associated with CHD7 mutation.

Madhurima Sanka, Nutthapong Tangsinmankong, Melissa Loscalzo, John W Sleasman, Morna J Dorsey.   

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Year:  2007        PMID： 17931565     DOI： 10.1016/j.jaci.2007.08.013

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  17 in total

Review 1.  Chromodomain proteins in development: lessons from CHARGE syndrome.

Authors:  W S Layman; E A Hurd; D M Martin
Journal:  Clin Genet       Date:  2010-04-08       Impact factor: 4.438

2.  General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations.

Authors:  Ifat Keydar; Edna Ben-Asher; Ester Feldmesser; Noam Nativ; Arisa Oshimoto; Diego Restrepo; Hiroaki Matsunami; Ming-Shan Chien; Jayant M Pinto; Yoav Gilad; Tsviya Olender; Doron Lancet
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

Review 3.  CHARGE syndrome: a review of the immunological aspects.

Authors:  Monica T Y Wong; Elisabeth H Schölvinck; Annechien J A Lambeck; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2015-02-18       Impact factor: 4.246

4.  Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.

Authors:  Joshua D Bernstock; Arthur H Totten; Abdel G Elkahloun; Kory R Johnson; Anna C Hurst; Frederick Goldman; Andrew K Groves; Fady M Mikhail; T Prescott Atkinson
Journal:  J Allergy Clin Immunol       Date:  2019-10-07       Impact factor: 10.793

5.  More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Authors:  N Corsten-Janssen; S C Saitta; L H Hoefsloot; D M McDonald-McGinn; D A Driscoll; R Derks; K A Dickinson; W S Kerstjens-Frederikse; B S Emanuel; E H Zackai; C M A van Ravenswaaij-Arts
Journal:  Mol Syndromol       Date:  2013-05-28

Review 6.  Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Authors:  Gabriel E Zentner; Wanda S Layman; Donna M Martin; Peter C Scacheri
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

7.  CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.

Authors:  Shun Yan; Rassarin Thienthanasit; Dongquan Chen; Erik Engelen; Joanna Brühl; David K Crossman; Robert Kesterson; Qin Wang; Karim Bouazoune; Kai Jiao
Journal:  Proc Natl Acad Sci U S A       Date:  2020-10-30       Impact factor: 11.205

8.  Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

Authors:  Hirosuke Inoue; Hidetoshi Takada; Takeshi Kusuda; Takako Goto; Masayuki Ochiai; Tadamune Kinjo; Jun Muneuchi; Yasushi Takahata; Naomi Takahashi; Tomohiro Morio; Kenjiro Kosaki; Toshiro Hara
Journal:  Eur J Pediatr       Date:  2010-01-06       Impact factor: 3.183

9.  CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression.

Authors:  Michael P Schnetz; Lusy Handoko; Batool Akhtar-Zaidi; Cynthia F Bartels; C Filipe Pereira; Amanda G Fisher; David J Adams; Paul Flicek; Gregory E Crawford; Thomas Laframboise; Paul Tesar; Chia-Lin Wei; Peter C Scacheri
Journal:  PLoS Genet       Date:  2010-07-15       Impact factor: 5.917

Review 10.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261
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