All individuals with variants in gene RS1

2179 entries on 22 pages. Showing entries 1 - 100.
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00000047 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000058 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000102 - PubMed: Almomani 2011 - - - - - - - - - - - 3 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00004010 - PubMed: Gibrouval 2012 - - ? France - - - - - RTD - 1 1 Olivier Gribouval
00004374 - PubMed: Hirono 1994 - ? ? Japan - - - - - HAG - 1 1 Ettore Capoluongo
00009921 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Annemarie H van der Hout
00009922 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Rien Blok
00009923 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Annemarie H van der Hout
00009924 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Ans M.W. van den Ouweland
00009933 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Rien Blok
00009934 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Rien Blok
00009935 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Rien Blok
00009936 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Frans BL Hogervorst
00009937 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Ans M.W. van den Ouweland
00009940 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Juul Wijnen
00009941 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Juul Wijnen
00009949 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Annemarie H van der Hout
00009955 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Peter Devilee
00009960 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Annemarie H van der Hout
00009961 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Juul Wijnen
00009962 - - - - ? Netherlands - - - - - cancer, breast - 1 1 Ans M.W. van den Ouweland
00087256 - - - ? - - - - - - - - - 31 1 Johan den Dunnen
00087257 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087258 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 4 affecteds ? - United Kingdom (Great Britain) - - - - - RS1 - 1 4 Dorothy Trump
00087259 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087260 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000 14 affecteds M - Sweden - - - - - RS1 - 1 14 Johan den Dunnen
00087261 - PubMed: RS-consortium 1998, group 4 - ? - Sweden - - - - - RS1 - 1 1 Johan den Dunnen
00087262 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087263 - PubMed: RS-consortium 1998, group 3 - M - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087264 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Eksandh 2005 14 affecteds M - Sweden - - - - - RS1 - 1 14 Johan den Dunnen
00087265 FamRS305 PubMed: Huopaniemi 2000 multi-generation family, 17 affected males M no Denmark - - - - - RS1 mild-moderate, typical X-linked juvenile retinoschisis, majority patients history of visual impairment appearing in early infancy; one patient had congenital nystagmus; visual acuity primarily 0.9-0.2, little-no deterioration through- out life 2 17 Johan den Dunnen
00087266 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - RS1 - 1 1 Johan den Dunnen
00087267 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - RS1 - 1 1 Johan den Dunnen
00087268 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - RS1 - 1 1 Johan den Dunnen
00087269 ?;Pat2 PubMed: Mashima 1999, PubMed: Shinoda 2000 - M - Japan - - - - - RS1 see paper; ... 1 1 Johan den Dunnen
00087270 Pat1 PubMed: Shinoda 2000 - M - Japan - - - - - RS1 see paper; ... 1 1 Johan den Dunnen
00087271 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087272 - PubMed: Mashima 1999 - M - Japan - - - - - RS1 - 1 1 Johan den Dunnen
00087273 FamRS315 PubMed: Huopaniemi 2000 family, 2 affected sibs M no Denmark - - - - - RS1 typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres 1 2 Johan den Dunnen
00087274 - PubMed: Yu 2001 - ? - China - - - - - RS1 - 1 1 Johan den Dunnen
00087275 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087276 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087277 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087278 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087279 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087280 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087281 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087282 - PubMed: Hiriyanna 1999 - M - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087283 - PubMed: Hiriyanna 1999 - M - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087284 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087285 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087286 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087287 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087288 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087289 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087290 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087291 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087292 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087293 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087294 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087295 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087296 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087297 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087298 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087299 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087300 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087301 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087302 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087303 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087304 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087305 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087306 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087307 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087308 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087309 - PubMed: Huopaniemi 1999 19% of Finnish RS mutations M - Finland - - - - - RS1 - 1 1 Johan den Dunnen
00087310 - PubMed: RS-consortium 1998, group 4 - ? - Finland - - - - - RS1 - 1 1 Johan den Dunnen
00087311 - PubMed: RS-consortium 1998, group 2 - ? - France - - - - - RS1 - 1 1 Johan den Dunnen
00087312 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087313 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 several patients M - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087314 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087315 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087316 - - - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087317 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087318 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087319 - PubMed: Inoue 2000 - ? - Japan - - - - - RS1 - 1 1 Johan den Dunnen
00087320 - PubMed: RS-consortium 1998, group 4 - ? - United Kingdom (Great Britain) Scotland - - - - RS1 - 1 1 Johan den Dunnen
00087321 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000 2 affecteds M - Sweden - - - - - RS1 - 1 2 Johan den Dunnen
00087322 - PubMed: RS-consortium 1998, group 3 - ? - Sweden - - - - - RS1 - 1 1 Johan den Dunnen
00087323 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 several patients M - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087324 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087325 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087326 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087327 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087328 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - RS1 - 1 1 Dorothy Trump
00087329 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - RS1 - 1 1 Johan den Dunnen
00087330 - PubMed: RS-consortium 1998, group 3 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
00087331 - PubMed: Sauer 1997 - ? - Germany - - - - - RS1 - 1 1 Johan den Dunnen
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