A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

L. A.R.A. GHARIBEH; I. N.A.A.M. EL-RASSY; A. Y.M.A.N. SOUBRA; R. A.Y.A. SAFA; A. K.L. FAHED; R. A.C.H.E.L. TANOS; M. A.R.I.A.M. ARABI; Z. A.K.A.R.I.A. KAMBRIS; F. A.D.I. BITAR; G. E.O.R.G.E.S. NEMER

doi:10.1007/s12041-015-0514-0

A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

L. A.R.A. GHARIBEH, I. N.A.A.M. EL-RASSY, A. Y.M.A.N. SOUBRA, R. A.Y.A. SAFA, A. K.L. FAHED, R. A.C.H.E.L. TANOS, M. A.R.I.A.M. ARABI, Z. A.K.A.R.I.A. KAMBRIS, F. A.D.I. BITAR, G. E.O.R.G.E.S. NEMER

Urology

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

Original language	English (US)
Pages (from-to)	309-312
Number of pages	4
Journal	Journal of Genetics
Volume	94
Issue number	2
DOIs	https://doi.org/10.1007/s12041-015-0514-0
State	Published - Jun 27 2015

Bibliographical note

Funding Information:
We thank the family members for their contribution to this research. We also thank members of the Congenital Heart Disease Genetic Programmme (CHDGP) for critical review of the manuscript. This work is supported by a Farouk Jabre grant. The protocol was approved by the IRB at the American University of Beirut (Bioch.GN.01.).

Keywords

NPHS1
aortic
congenital
stenosis

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10.1007/s12041-015-0514-0

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GHARIBEH, L. A. R. A., EL-RASSY, I. N. A. A. M., SOUBRA, A. Y. M. A. N., SAFA, R. A. Y. A., FAHED, A. K. L., TANOS, R. A. C. H. E. L., ARABI, M. A. R. I. A. M., KAMBRIS, Z. A. K. A. R. I. A., BITAR, F. A. D. I., & NEMER, G. E. O. R. G. E. S. (2015). A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy? Journal of Genetics, 94(2), 309-312. https://doi.org/10.1007/s12041-015-0514-0

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title = "A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?",

keywords = "NPHS1, aortic, congenital, stenosis",

author = "GHARIBEH, {L. A.R.A.} and EL-RASSY, {I. N.A.A.M.} and SOUBRA, {A. Y.M.A.N.} and SAFA, {R. A.Y.A.} and FAHED, {A. K.L.} and TANOS, {R. A.C.H.E.L.} and ARABI, {M. A.R.I.A.M.} and KAMBRIS, {Z. A.K.A.R.I.A.} and BITAR, {F. A.D.I.} and NEMER, {G. E.O.R.G.E.S.}",

note = "Funding Information: We thank the family members for their contribution to this research. We also thank members of the Congenital Heart Disease Genetic Programmme (CHDGP) for critical review of the manuscript. This work is supported by a Farouk Jabre grant. The protocol was approved by the IRB at the American University of Beirut (Bioch.GN.01.).",

year = "2015",

month = jun,

day = "27",

doi = "10.1007/s12041-015-0514-0",

language = "English (US)",

volume = "94",

pages = "309--312",

journal = "Journal of Genetics",

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number = "2",

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TY - JOUR

T1 - A novel nonsense mutation in NPHS1

T2 - is aortic stenosis associated with congenital nephropathy?

AU - GHARIBEH, L. A.R.A.

AU - EL-RASSY, I. N.A.A.M.

AU - SOUBRA, A. Y.M.A.N.

AU - SAFA, R. A.Y.A.

AU - FAHED, A. K.L.

AU - TANOS, R. A.C.H.E.L.

AU - ARABI, M. A.R.I.A.M.

AU - KAMBRIS, Z. A.K.A.R.I.A.

AU - BITAR, F. A.D.I.

AU - NEMER, G. E.O.R.G.E.S.

N1 - Funding Information: We thank the family members for their contribution to this research. We also thank members of the Congenital Heart Disease Genetic Programmme (CHDGP) for critical review of the manuscript. This work is supported by a Farouk Jabre grant. The protocol was approved by the IRB at the American University of Beirut (Bioch.GN.01.).

PY - 2015/6/27

Y1 - 2015/6/27

KW - NPHS1

KW - aortic

KW - congenital

KW - stenosis

UR - http://www.scopus.com/inward/record.url?scp=84938974208&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84938974208&partnerID=8YFLogxK

U2 - 10.1007/s12041-015-0514-0

DO - 10.1007/s12041-015-0514-0

M3 - Article

AN - SCOPUS:84938974208

SN - 0022-1333

VL - 94

SP - 309

EP - 312

JO - Journal of Genetics

JF - Journal of Genetics

IS - 2

ER -

A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

Bibliographical note

Keywords

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