Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

Hagit Baris, Bassem A. Bejjani, Wen Hann Tan, David L. Coulter, Judith A. Martin, Andrea L. Storm, Barbara K Burton, Sulagna C. Saitta, Marzena Gajecka, Blake C. Ballif, Mira B. Irons, Lisa G. Shaffer, Virginia E. Kimonis*

*Corresponding author for this work

Research output: Contribution to journalLetter

9 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)1876-1879
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number17
DOIs
StatePublished - Sep 1 2006

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Speech Disorders
Developmental Disabilities
Gene Duplication
Chromosomes, Human, Pair 2
Preschool Children
Genes
Proteins
Familial juvenile Nephronophthisis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Baris, H., Bejjani, B. A., Tan, W. H., Coulter, D. L., Martin, J. A., Storm, A. L., ... Kimonis, V. E. (2006). Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]. American Journal of Medical Genetics, Part A, 140(17), 1876-1879. https://doi.org/10.1002/ajmg.a.31390
Baris, Hagit ; Bejjani, Bassem A. ; Tan, Wen Hann ; Coulter, David L. ; Martin, Judith A. ; Storm, Andrea L. ; Burton, Barbara K ; Saitta, Sulagna C. ; Gajecka, Marzena ; Ballif, Blake C. ; Irons, Mira B. ; Shaffer, Lisa G. ; Kimonis, Virginia E. / Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]. In: American Journal of Medical Genetics, Part A. 2006 ; Vol. 140, No. 17. pp. 1876-1879.
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title = "Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]",
author = "Hagit Baris and Bejjani, {Bassem A.} and Tan, {Wen Hann} and Coulter, {David L.} and Martin, {Judith A.} and Storm, {Andrea L.} and Burton, {Barbara K} and Saitta, {Sulagna C.} and Marzena Gajecka and Ballif, {Blake C.} and Irons, {Mira B.} and Shaffer, {Lisa G.} and Kimonis, {Virginia E.}",
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pages = "1876--1879",
journal = "American Journal of Medical Genetics, Part A",
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Baris, H, Bejjani, BA, Tan, WH, Coulter, DL, Martin, JA, Storm, AL, Burton, BK, Saitta, SC, Gajecka, M, Ballif, BC, Irons, MB, Shaffer, LG & Kimonis, VE 2006, 'Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]', American Journal of Medical Genetics, Part A, vol. 140, no. 17, pp. 1876-1879. https://doi.org/10.1002/ajmg.a.31390

Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]. / Baris, Hagit; Bejjani, Bassem A.; Tan, Wen Hann; Coulter, David L.; Martin, Judith A.; Storm, Andrea L.; Burton, Barbara K; Saitta, Sulagna C.; Gajecka, Marzena; Ballif, Blake C.; Irons, Mira B.; Shaffer, Lisa G.; Kimonis, Virginia E.

In: American Journal of Medical Genetics, Part A, Vol. 140, No. 17, 01.09.2006, p. 1876-1879.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

AU - Baris, Hagit

AU - Bejjani, Bassem A.

AU - Tan, Wen Hann

AU - Coulter, David L.

AU - Martin, Judith A.

AU - Storm, Andrea L.

AU - Burton, Barbara K

AU - Saitta, Sulagna C.

AU - Gajecka, Marzena

AU - Ballif, Blake C.

AU - Irons, Mira B.

AU - Shaffer, Lisa G.

AU - Kimonis, Virginia E.

PY - 2006/9/1

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DO - 10.1002/ajmg.a.31390

M3 - Letter

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VL - 140

SP - 1876

EP - 1879

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 17

ER -