All individuals with variants in gene USH1C

245 entries on 3 pages. Showing entries 1 - 100.
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Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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00000096 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00001826 - - - - - (United States) - - 0 - - RP - 2 1 Feng Wang
00080823 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - DFNB18A Deafness, autosomal recessive 18A (OMIM:602092) 1 1 Daniel Trujillano
00100098 PKRD176;61176 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - 0 - - retinal disease - 1 1 James Hejtmancik
00144156 - PubMed: Katagiri 2014 index patient F no Japan Japanese - 0 - - retinal disease - 1 1 Rob W.J. Collin
00144157 - PubMed: Katagiri 2014 index patient M no Japan Japanese - 0 - - retinal disease - 1 1 Rob W.J. Collin
00155561 - Sharon, submitted - F no Israel Yemenite;Jewish - 0 - - retinal disease - 1 4 Dror Sharon
00165922 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165923 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165924 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165925 - PubMed: Ebermann 2007 Proband M - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165926 - PubMed: Ebermann 2007 Proband F - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165927 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165928 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165929 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165930 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165931 - PubMed: Roux 2006 Proband M - France - - 0 - - USH1 - 19 1 Anne-Françoise Roux
00165932 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - USH1 - 26 1 Anne-Françoise Roux
00165933 - - Relative F - Guinea - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165934 - PubMed: Verpy 2000 Proband - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165935 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165936 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165937 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165938 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165939 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165940 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165941 - PubMed: Verpy 2000 Relative - - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165942 - PubMed: Verpy 2000 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165943 - PubMed: Verpy 2000 Relative - - United Kingdom (Great Britain) - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165944 - PubMed: Verpy 2000 Relative - - United Kingdom (Great Britain) - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165945 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165946 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165947 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165948 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165949 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165950 - PubMed: Verpy 2000 Relative - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165951 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165952 - PubMed: Verpy 2000 Relative - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165953 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 4 1 Anne-Françoise Roux
00165954 - PubMed: Verpy 2000 Relative - - Canada - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165955 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - USH1 - 3 1 Anne-Françoise Roux
00165956 - PubMed: Verpy 2000 Proband - - Germany - - 0 - - USH1 - 1 1 Anne-Françoise Roux
00165957 - PubMed: Verpy 2000 Proband - - Germany - - 0 - - USH1 - 1 1 Anne-Françoise Roux
00165958 - PubMed: Verpy 2000 Proband - - Germany - - 0 - - USH1 - 1 1 Anne-Françoise Roux
00165959 - PubMed: Verpy 2000 Proband - - Germany - - 0 - - USH1 - 1 1 Anne-Françoise Roux
00165960 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165961 - PubMed: Zwaenepoel 2001 Proband - - United States - - 0 - - USH1 - 3 1 Anne-Françoise Roux
00165962 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165963 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165964 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165965 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165966 - PubMed: Verpy 2000 Proband F - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165967 - PubMed: Verpy 2000 Relative F - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165968 - PubMed: Verpy 2000 Relative M - Lebanon - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165969 Fam1PatV1 PubMed: Bitner-Glindzicz 2000 5-generation family, 2 affected (F, M), proband M - - - - 0 - - USH - 1 2 Anne-Françoise Roux
00165970 Fam2PatIV2 PubMed: Bitner-Glindzicz 2000 4-generation family, 4 affected (2f, 2M), proband F - - - - 0 - - USH - 1 1 Anne-Françoise Roux
00165971 Fam2PatIV4 PubMed: Bitner-Glindzicz 2000 relative M - - - - 0 - - USH - 1 1 Anne-Françoise Roux
00165972 Fam3-proband PubMed: Bitner-Glindzicz 2000 family, 3-affected sibs (2 brothers and a sister), proband M yes Pakistan - - 0 - - USH1 profound congenital sensorineural deafness; 24y-retinitis pigmentosa on fundoscopy, confirmed by electroretinogram, impairment of balance, suffers from epilepsy 1 3 Anne-Françoise Roux
00165973 Fam3Pat2 PubMed: Bitner-Glindzicz 2000 relative M yes Pakistan - - 0 - - USH1 profound congenital sensorineural deafness; retinitis pigmentosa, reduced responses on ERG consistent with retinal dystrophy, problems with balance 1 1 Anne-Françoise Roux
00165974 Fam PubMed: Bitner-Glindzicz 2000 Acadian cell lines M yes United States - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165975 Fam PubMed: Bitner-Glindzicz 2000 Acadian cell lines F yes United States - - 0 - - USH1 - 1 2 Anne-Françoise Roux
00165976 - PubMed: Blaydon 2003 Proband - - Greece - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165977 - PubMed: Blaydon 2003 Proband - - - - - 0 - - USH1 - 1 1 Anne-Françoise Roux
00165978 - PubMed: Blaydon 2003 Proband - - - - - 0 - - USH1 - 1 1 Anne-Françoise Roux
00165979 - PubMed: Ouyang 2002 Proband M - China - - 0 - - DFNB - 2 1 Anne-Françoise Roux
00165980 - PubMed: Ouyang 2002 Proband M - United States - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00165981 - PubMed: Ouyang 2002 Proband M - United States - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00165982 - PubMed: Ouyang 2002 Proband M - United States - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00165983 - PubMed: Ouyang 2005 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00165984 - PubMed: Roux 2011 Proband M - France - - 0 - - USH1 - 19 1 Anne-Françoise Roux
00166478 U819 PubMed: Roux 2011 Proband M - France - - 0 - - USH1 - 7 1 Anne-Françoise Roux
00166479 - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00166480 - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00166490 - PubMed: Aparisi 2010 Proband M - Spain - - 0 - - USH1 - 3 1 Anne-Françoise Roux
00166491 - PubMed: Aparisi 2010 Proband M - Italy - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00166492 - PubMed: Aparisi 2010 Proband - Minigene studies in Aparisi et al., 2013 F - Turkey - - 0 - - USH1 - 3 1 Anne-Françoise Roux
00166493 - PubMed: Aparisi 2010 Relative F - Turkey - - 0 - - USH1 - 3 1 Anne-Françoise Roux
00166494 - PubMed: Aparisi 2010 Relative M - Turkey - - 0 - - USH1 - 3 1 Anne-Françoise Roux
00166516 - PubMed: Saihan 2011 Proband F - United Kingdom (Great Britain) - - 0 - - retinal disease - 2 1 Maria Bitner-Glindzicz
00166517 - PubMed: Saihan 2011 Relative M - United Kingdom (Great Britain) - - 0 - - retinal disease - 2 1 Maria Bitner-Glindzicz
00166521 - PubMed: Bonnet 2011 Proband M - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00166522 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH1 - 2 1 Anne-Françoise Roux
00166595 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166608 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 1 1 Maria Bitner-Glindzicz
00166613 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 2 1 Maria Bitner-Glindzicz
00166623 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166635 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166640 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 3 1 Maria Bitner-Glindzicz
00166644 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166653 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166655 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - 1 1 Maria Bitner-Glindzicz
00166658 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - 1 1 Maria Bitner-Glindzicz
00166662 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 1 1 Maria Bitner-Glindzicz
00166669 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166679 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166683 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166688 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166691 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH2 - 1 1 Maria Bitner-Glindzicz
00166706 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 1 1 Maria Bitner-Glindzicz
00166710 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH1 - 2 1 Maria Bitner-Glindzicz
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