Literature DB >> 19215055

Is this the Coffin-Siris syndrome or the BOD syndrome?

Ariel Brautbar1, Judith Ragsdale, Marwan Shinawi.   

Abstract

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Year:  2009        PMID： 19215055     DOI： 10.1002/ajmg.a.32671

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


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  5 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Authors:  Ronit Marom; Mahim Jain; Lindsay C Burrage; I-Wen Song; Brett H Graham; Chester W Brown; Servi J C Stevens; Alexander P A Stegmann; Andrew T Gunter; Julie D Kaplan; Ralitza H Gavrilova; Marwan Shinawi; Jill A Rosenfeld; Yangjin Bae; Alyssa A Tran; Yuqing Chen; James T Lu; Richard A Gibbs; Christine Eng; Yaping Yang; Justine Rousseau; Bert B A de Vries; Philippe M Campeau; Brendan Lee
Journal:  Hum Mutat       Date:  2017-07-10       Impact factor: 4.878

3.  Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.

Authors:  Lalita Nemani; Ramachandra Barik; Amar Narayana Patnaik; Ramesh C Mishra; Amaresh M Rao; Pragati Kapur
Journal:  Ann Pediatr Cardiol       Date:  2014-09

4.  Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.

Authors:  Cemre Celen; Jen-Chieh Chuang; Xin Luo; Nadine Nijem; Angela K Walker; Fei Chen; Shuyuan Zhang; Andrew S Chung; Liem H Nguyen; Ibrahim Nassour; Albert Budhipramono; Xuxu Sun; Levinus A Bok; Meriel McEntagart; Evelien F Gevers; Shari G Birnbaum; Amelia J Eisch; Craig M Powell; Woo-Ping Ge; Gijs We Santen; Maria Chahrour; Hao Zhu
Journal:  Elife       Date:  2017-07-11       Impact factor: 8.140

5.  Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

Authors:  Jun Zhu; Jun Qiu; Gregg Magrane; Malak Abedalthagafi; Andrea Zanko; Mahin Golabi; Farid F Chehab
Journal:  PLoS One       Date:  2012-12-27       Impact factor: 3.240
  5 in total

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