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Brief report - A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
被引:67
作者
:
Ben-Yosef, T
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ben-Yosef, T
Ness, SL
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ness, SL
Madeo, AC
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Madeo, AC
Bar-Lev, A
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Bar-Lev, A
Wolfman, JH
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Wolfman, JH
Ahmed, ZM
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ahmed, ZM
Desnick, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Desnick, RJ
Willner, JP
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Willner, JP
Avraham, KB
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Avraham, KB
Ostrer, H
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ostrer, H
Oddoux, C
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Oddoux, C
Griffith, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Griffith, AJ
Friedman, TB
论文数:
0
引用数:
0
h-index:
0
机构:
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Friedman, TB
机构
:
[1]
NIDCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA
[2]
CUNY Mt Sinai Sch Med, Dept Human Genet, New York, NY 10029 USA
[3]
Tel Aviv Univ, Sackler Sch Med, Dept Human Genet & Mol Med, IL-69978 Tel Aviv, Israel
[4]
NYU, Sch Med, Human Genet Program, New York, NY USA
来源
:
NEW ENGLAND JOURNAL OF MEDICINE
|
2003年
/ 348卷
/ 17期
关键词
:
D O I
:
10.1056/NEJMoa021502
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
[No abstract available]
引用
收藏
页码:1664 / 1670
页数:7
相关论文
共 29 条
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Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen
BROKX, JPL
VANDENBROEK, P
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen
VANDENBROEK, P
[J].
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共 29 条
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Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
Adato, A
论文数:
0
引用数:
0
h-index:
0
机构:
SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
Adato, A
Weil, D
论文数:
0
引用数:
0
h-index:
0
机构:
SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
Weil, D
Kalinski, H
论文数:
0
引用数:
0
h-index:
0
机构:
SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
Kalinski, H
PelOr, Y
论文数:
0
引用数:
0
h-index:
0
机构:
SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
PelOr, Y
Ayadi, H
论文数:
0
引用数:
0
h-index:
0
机构:
SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
Ayadi, H
论文数:
引用数:
h-index:
机构:
Petit, C
Korostishevsky, M
论文数:
0
引用数:
0
h-index:
0
机构:
SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
Korostishevsky, M
BonneTamir, B
论文数:
0
引用数:
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h-index:
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SACKLER SCH MED, DEPT HUMAN GENET, IL-69978 RAMAT AVIV, ISRAEL
BonneTamir, B
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AMERICAN JOURNAL OF HUMAN GENETICS,
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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
Ahmed, ZM
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Ahmed, ZM
Riazuddin, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Riazuddin, S
Bernstein, SL
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Bernstein, SL
Ahmed, Z
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Ahmed, Z
Khan, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Khan, S
Griffith, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Griffith, AJ
Morell, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Morell, RJ
Friedman, TB
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Friedman, TB
Riazuddin, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Riazuddin, S
Wilcox, ER
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
Wilcox, ER
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2-0
[5]
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
Bitner-Glindzicz, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Bitner-Glindzicz, M
Lindley, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Lindley, KJ
Rutland, P
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Rutland, P
Blaydon, D
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Blaydon, D
Smith, VV
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Smith, VV
Milla, PJ
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Milla, PJ
Hussain, K
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Hussain, K
Furth-Lavi, J
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Furth-Lavi, J
Cosgrove, KE
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Cosgrove, KE
Shepherd, RM
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Shepherd, RM
Barnes, PD
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Barnes, PD
O'Brien, RE
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
O'Brien, RE
Farndon, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Farndon, PA
Sowden, J
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Sowden, J
Liu, XZ
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Liu, XZ
Scanlan, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Scanlan, MJ
Malcolm, S
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Malcolm, S
Dunne, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Dunne, MJ
Aynsley-Green, A
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Aynsley-Green, A
Glaser, B
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Child Hlth, Dept Clin & Mol Genet, London, England
Glaser, B
[J].
NATURE GENETICS,
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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Bolz, H
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Bolz, H
von Brederlow, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
von Brederlow, B
Ramírez, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Ramírez, A
Bryda, EC
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Bryda, EC
Kutsche, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Kutsche, K
Nothwang, HG
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Nothwang, HG
Seeliger, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Seeliger, M
Cabrera, MDS
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Cabrera, MDS
Vila, MC
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Vila, MC
Molina, OP
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Molina, OP
Gal, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Gal, A
Kubisch, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hamburg, Krankenhaus Eppendorf, Inst Human Genet, D-2000 Hamburg, Germany
Kubisch, C
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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
Bork, JM
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Bork, JM
Peters, LM
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Peters, LM
Riazuddin, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Riazuddin, S
Bernstein, SL
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Bernstein, SL
Ahmed, ZM
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ahmed, ZM
Ness, SL
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ness, SL
Polomeno, R
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Polomeno, R
Ramesh, A
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ramesh, A
Schloss, M
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Schloss, M
Srisailpathy, CRS
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Srisailpathy, CRS
Wayne, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Wayne, S
Bellman, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Bellman, S
Desmukh, D
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Desmukh, D
Ahmed, Z
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Ahmed, Z
Khan, SN
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Khan, SN
Kaloustian, VMD
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Kaloustian, VMD
Li, XC
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Li, XC
Lalwani, A
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Lalwani, A
Riazuddin, S
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Riazuddin, S
Bitner-Glindzicz, M
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Bitner-Glindzicz, M
Nance, WE
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Nance, WE
Liu, XZ
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Liu, XZ
Wistow, G
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Wistow, G
Smith, RJH
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Smith, RJH
Griffith, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Griffith, AJ
Wilcox, ER
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Wilcox, ER
Friedman, TB
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Friedman, TB
Morell, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA
Morell, RJ
[J].
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PROGRAM DESCRIPTION - CENTER-DETUDE-DU-POLYMORPHISME-HUMAIN (CEPH) - COLLABORATIVE GENETIC-MAPPING OF THE HUMAN GENOME
DAUSSET, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132
DAUSSET, J
CANN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132
CANN, H
COHEN, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132
COHEN, D
LATHROP, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132
LATHROP, M
LALOUEL, JM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132
LALOUEL, JM
WHITE, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV UTAH,HLTH SCI CTR,HOWARD HUGHES MED INST,SALT LAKE CITY,UT 84132
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论文数:
0
引用数:
0
h-index:
0
机构:
Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen
HINDERINK, JB
MENS, LHM
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen
MENS, LHM
BROKX, JPL
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen
BROKX, JPL
VANDENBROEK, P
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen
VANDENBROEK, P
[J].
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,
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3
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