Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Surasak Puvabanditsin; Michael S. Nagar; Meera Joshi; George Lambert; Eugene Garrow; Erik Brandsma

doi:10.1002/ajmg.a.33562

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Surasak Puvabanditsin, Michael S. Nagar, Meera Joshi, George Lambert, Eugene Garrow, Erik Brandsma

Robert Wood Johnson Medical School (RWJMS), Pediatrics, Division of Neonatology

Research output: Contribution to journal › Letter › peer-review

14 Scopus citations

Original language	English (US)
Pages (from-to)	2383-2386
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	152
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.33562
State	Published - Sep 2010

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1002/ajmg.a.33562

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@article{c5b1a0049335456a83fb37a5ae5eddd2,

title = "Microdeletion of 16p11.2 associated with endocardial fibroelastosis",

author = "Surasak Puvabanditsin and Nagar, {Michael S.} and Meera Joshi and George Lambert and Eugene Garrow and Erik Brandsma",

note = "Funding Information: Abbreviations: AIH, autoimmune hepatitis; LKM, liver-kidney microsomal autoantibodies; CYP, cytochromes P450; UGT, uridine-diphosphate glucuronosyltransferase; HCV, hepatitis C virus; PBC, primary biliary cirrhosis. From the 1Department of Pathophysiology; 2Clinic for Internal Medicine IV, Department of Gastroenterology and Hepatology; 3Institute of Pharmaceutical Chemistry, University of Vienna, Vienna, Austria; and 4Molecular Therapeutics Unit, Oral and Pharyngeal Cancer Branch, National Institute of Dental and Craniofacial Research, Bethesda, MD. Received December 7, 2000; accepted February 20, 2001. Supported in part by a grant from the Jubil{\"a}umsfond der {\"O}sterr. Nationalbank (grant no. 5276, 7236). T.B. and P.H. thank the University of Vienna for fellowships. Address reprint requests to: Theresia Thalhammer, Ph.D., Department of Pathophysiology, University of Vienna, AKH-Erweiterungsbau Ost, A-1090 Vienna, Austria. E-Mail: [email protected]; fax: (43) 1-40400 5130. Copyright {\textcopyright} 2001 by the American Association for the Study of Liver Diseases. 0270-9139/01/3305-0007$35.00/0 doi:10.1053/jhep.2001.24101",

year = "2010",

month = sep,

doi = "10.1002/ajmg.a.33562",

language = "English (US)",

volume = "152",

pages = "2383--2386",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "9",

}

TY - JOUR

T1 - Microdeletion of 16p11.2 associated with endocardial fibroelastosis

AU - Puvabanditsin, Surasak

AU - Nagar, Michael S.

AU - Joshi, Meera

AU - Lambert, George

AU - Garrow, Eugene

AU - Brandsma, Erik

N1 - Funding Information: Abbreviations: AIH, autoimmune hepatitis; LKM, liver-kidney microsomal autoantibodies; CYP, cytochromes P450; UGT, uridine-diphosphate glucuronosyltransferase; HCV, hepatitis C virus; PBC, primary biliary cirrhosis. From the 1Department of Pathophysiology; 2Clinic for Internal Medicine IV, Department of Gastroenterology and Hepatology; 3Institute of Pharmaceutical Chemistry, University of Vienna, Vienna, Austria; and 4Molecular Therapeutics Unit, Oral and Pharyngeal Cancer Branch, National Institute of Dental and Craniofacial Research, Bethesda, MD. Received December 7, 2000; accepted February 20, 2001. Supported in part by a grant from the Jubiläumsfond der Österr. Nationalbank (grant no. 5276, 7236). T.B. and P.H. thank the University of Vienna for fellowships. Address reprint requests to: Theresia Thalhammer, Ph.D., Department of Pathophysiology, University of Vienna, AKH-Erweiterungsbau Ost, A-1090 Vienna, Austria. E-Mail: [email protected]; fax: (43) 1-40400 5130. Copyright © 2001 by the American Association for the Study of Liver Diseases. 0270-9139/01/3305-0007$35.00/0 doi:10.1053/jhep.2001.24101

PY - 2010/9

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DO - 10.1002/ajmg.a.33562

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JF - American Journal of Medical Genetics, Part A

IS - 9

ER -

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

All Science Journal Classification (ASJC) codes

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