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

Y1 - 2010/9

UR - https://www.scopus.com/pages/publications/77956122632

UR - https://www.scopus.com/pages/publications/77956122632#tab=citedBy

U2 - 10.1002/ajmg.a.33562

DO - 10.1002/ajmg.a.33562

M3 - Letter

C2 - 20683992

AN - SCOPUS:77956122632

SN - 1552-4825

VL - 152

SP - 2383

EP - 2386

JO - American Journal of Medical Genetics, Part A

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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