Literature DB >> 5410571

Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

R J Gorlin, J Cervenka, R C Anderson, J J Sauk, W D Bevis.   

Abstract

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Year:  1970        PMID: 5410571

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


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  11 in total

1.  Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

Authors:  Jennifer J Johnston; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Stacie K Loftus; Karen Chong; James C Mullikin; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2010-05-06       Impact factor: 11.025

2.  Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

Authors:  Karen W Gripp; Elizabeth Hopkins; Jennifer J Johnston; Caitlin Krause; William B Dobyns; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

3.  A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis.

Authors:  M A Abruzzo; R P Erickson
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

4.  Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Authors:  Jennifer J Johnston; Julie C Sapp; Cynthia Curry; Margaret Horton; Eyby Leon; Kristina Cusmano-Ozog; William B Dobyns; Louanne Hudgins; Elaine Zackai; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2013-11-20       Impact factor: 2.802

5.  Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence.

Authors:  M Gewitz; R Dinwiddie; T Yuille; F Hill; C O Carter
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

6.  Congenital heart disease in the Pierre Robin syndrome.

Authors:  W Pearl
Journal:  Pediatr Cardiol       Date:  1982       Impact factor: 1.655

7.  Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

Authors:  Zöe Powis; Alexa Hart; Sara Cherny; Igor Petrik; Erika Palmaer; Sha Tang; Carolyn Jones
Journal:  BMC Med Genet       Date:  2017-06-02       Impact factor: 2.103

8.  RBM10 promotes transformation-associated processes in small cell lung cancer and is directly regulated by RBM5.

Authors:  Julie J Loiselle; Justin G Roy; Leslie C Sutherland
Journal:  PLoS One       Date:  2017-06-29       Impact factor: 3.240

Review 9.  RBM10: Harmful or helpful-many factors to consider.

Authors:  Julie J Loiselle; Leslie C Sutherland
Journal:  J Cell Biochem       Date:  2018-01-19       Impact factor: 4.429

10.  First reported adult patient with TARP syndrome: A case report.

Authors:  Allan T Højland; Ihab Lolas; Henrik Okkels; Charlotte K Lautrup; Birgitte R Diness; Michael B Petersen; Irene K Nielsen
Journal:  Am J Med Genet A       Date:  2018-11-21       Impact factor: 2.802

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