Literature DB >> 11424919

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.

E Blair, S J Price, C J Baty, I Ostman-Smith, H Watkins.   

Abstract

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Year:  2001        PMID： 11424919      PMCID： PMC1734887          DOI： 10.1136/jmg.38.6.385

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  To screen or not is not the question--it is when and how to screen.

Authors:  A J Marian; R Roberts
Journal:  Circulation       Date:  2003-05-06       Impact factor: 29.690

2.  Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.

Authors:  Ana Morales; Jose Renato Pinto; Jill D Siegfried; Duanxiang Li; Nadine Norton; Mark Hofmeyer; Marta Vallin; Azorides R Morales; James D Potter; Ray E Hershberger
Journal:  Clin Transl Sci       Date:  2010-10       Impact factor: 4.689

Review 3.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Authors:  Ali J Marian; Eugene Braunwald
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

4.  Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

Authors:  Gabriela Rodriguez; Tomomi Ueyama; Takehiro Ogata; Grazyna Czernuszewicz; Yanli Tan; Gerald W Dorn; Roberta Bogaev; Katsuya Amano; Hidemasa Oh; Hiroaki Matsubara; James T Willerson; Ali J Marian
Journal:  Circ Cardiovasc Genet       Date:  2011-06-03

Review 5.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

Review 6.  Genetic determinants of cardiac hypertrophy.

Authors:  Ali J Marian
Journal:  Curr Opin Cardiol       Date:  2008-05       Impact factor: 2.161

7.  Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Authors:  Christopher A Chapleau; Jane Lane; Susan M Kirwin; Carolyn Schanen; Kathy M B Vinette; Danielle Stubbolo; Patrick MacLeod; Daniel G Glaze; Kathleen J Motil; Jeffrey L Neul; Steven A Skinner; Walter E Kaufmann; Alan K Percy
Journal:  Am J Med Genet A       Date:  2013-05-21       Impact factor: 2.802

8.  Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.

Authors:  Renate Marquis-Nicholson; Salim Aftimos; Donald R Love
Journal:  Sultan Qaboos Univ Med J       Date:  2013-02-27

9.  Molecular Genetic Basis of Hypertrophic Cardiomyopathy.

Authors:  A J Marian
Journal:  Circ Res       Date:  2021-05-13       Impact factor: 17.367

Review 10.  A One Health Approach to Hypertrophic Cardiomyopathy.

Authors:  Yu Ueda; Joshua A Stern
Journal:  Yale J Biol Med       Date:  2017-09-25
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