All individuals with variants in gene WRN

269 entries on 3 pages. Showing entries 1 - 100.
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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) 1 1 Yu Sun
00248224 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - cancer, breast 31y ductal breast cancer, subtype HER-2 1 1 Zdenek Kleibl
00248268 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - cancer, breast 26y ductal breast cancer, subtype basal 1 1 Zdenek Kleibl
00294626 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 119 Mohammed Faruq
00294627 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00299642 FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - retinal disease see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165 1 1 Johan den Dunnen
00305196 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00406913 370275 PubMed: Jiang 2022 analysis 486 colorectal cancer patients M - China - - - - - cancer, colon colon cancer (sigmoid), stage II); mismatch repair status proficient; no family history 1 1 Johan den Dunnen
00406914 370518 PubMed: Jiang 2022 analysis 486 colorectal cancer patients M - China - - - - - cancer, colon colon cancer (sigmoid), stage II); mismatch repair status proficient; no family history 1 1 Johan den Dunnen
00406998 - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - cancer, colon - 1 2 Johan den Dunnen
00414522 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414523 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414524 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414525 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414526 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00419975 KERA1010PatIII3 PubMed: Saha 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents M no India Kerala - - - - WRN see paper 9 1 Johan den Dunnen
00419976 YOSI1010PatIV2 PubMed: Saha 2013 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Kingdom (Great Britain) Pakistan - - - - WRN see paper 9 1 Johan den Dunnen
00419997 VELO1010PatIV2 PubMed: Friedrich 2010, PubMed: Saha 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - WRN see paper 10 1 Johan den Dunnen
00419998 FamPatII2 PubMed: Yang 2015 3-generation family, 3 affected (3F) F - China - - - - - cancer see paper 1 3 Johan den Dunnen
00419999 patient PubMed: Lessel 2014 - M yes Turkey - - - - - AGS see paper; ..., aged appearance, prematurely gray hair, scleroderma-like skin, spastic paraplegia, apparent disability 1 1 Johan den Dunnen
00420040 WU1010 PubMed: Huang 2006 - F - Germany - - - - - WRN - 2 1 Johan den Dunnen
00420041 CP97510 PubMed: Friedrich 2010 - - - France - - - - - WRN see paper 1 1 Johan den Dunnen
00420042 CO1010 PubMed: Friedrich 2010 - - - Turkey - - - - - WRN - 1 1 Johan den Dunnen
00420043 ABCDE10010;AB1010 PubMed: Huang 2006 - - - France white - - - - WRN - 2 1 Johan den Dunnen
00420044 SI1010 PubMed: Friedrich 2010, PubMed: Miller 2022 - M - United States - - - - - WRN see paper; ..., unilateral cataract; no skin anomalies; no facial features; no short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; neoplasms; voice change; flat feet 4 1 Johan den Dunnen
00420045 HN2010 PubMed: Friedrich 2010 - - - Germany - - - - - WRN - 2 1 Johan den Dunnen
00420047 UT010 PubMed: Friedrich 2010 - - - Netherlands - - - - - WRN - 2 1 Johan den Dunnen
00420085 EN1010 PubMed: Miller 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - WRN see paper; ...; cataracts; skin anomalies; facial features; no short stature; greying or loss of hair; no diabetes mellitus; hypogonadism; osteoporosis; no osteosclerosis; no soft tissue calcification; no atherosclerosis; no neoplasms; voice change; no flat fee 2 1 Johan den Dunnen
00420086 PD1010 PubMed: Miller 2022 - M - - Asia-S - - - - ? see paper; ..., 10's Addison disease; 20's hypothyroidism and type 2 diabetes mellitus; 30's bilateral cataracts (surgery); skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; osteoporosis; no soft tissue calcification; voice change; no flat fee 2 1 Johan den Dunnen
00420087 BIA1010 PubMed: Yokote 2017, PubMed: Miller 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Poland - - - - - WRN see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; hypogonadism; osteoporosis; osteosclerosis; soft tissue calcification; atherosclerosis; neoplasms; voice change; flat feet 2 2 Johan den Dunnen
00420088 BIA1020 PubMed: Yokote 2017, PubMed: Miller 2022 brother M no Poland - - - - - WRN see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; hypogonadism; osteoporosis; soft tissue calcification; voice change; flat feet 2 1 Johan den Dunnen
00420089 CB4 PubMed: Miller 2022 - - no Japan - - - - - WRN see paper; ..., cataracts; skin anomalies; facial features; short stature; greying or loss of hair; diabetes mellitus; soft tissue calcification; atherosclerosis; no neoplasms; voice change; flat feet 2 1 Johan den Dunnen
00420090 CB6 PubMed: Miller 2022 - - no Japan - - - - - WRN - 2 1 Johan den Dunnen
00420091 WV PubMed: Bennett 1997, PubMed: Miller 2022 - - - United States - - - - - WRN - 2 1 Johan den Dunnen
00420092 FES PubMed: Yu 1997, PubMed: Miller 2022 - - - Germany - - - - - WRN - 3 1 Johan den Dunnen
00420342 12401 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420343 11601 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420344 0402 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420345 4601 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420346 7201 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420347 12601 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420348 7001 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420349 24002 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420350 5001 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420351 6601 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420352 0801 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420353 2101 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420354 11801 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420355 10801 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420356 6701 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420357 10101 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420358 9101 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420359 9801 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420360 10401 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420361 9601 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420362 8401 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420363 0701 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420364 6001 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420365 7701 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420366 9301 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420367 6103 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420369 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420370 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 3 Johan den Dunnen
00420371 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420372 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 5 Johan den Dunnen
00420373 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 2 Johan den Dunnen
00420374 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420375 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 4 Johan den Dunnen
00420376 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420377 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 3 Johan den Dunnen
00420378 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 3 Johan den Dunnen
00420379 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 10 Johan den Dunnen
00420380 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420381 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420382 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 3 Johan den Dunnen
00420383 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 2 Johan den Dunnen
00420384 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 8 Johan den Dunnen
00420385 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 2 Johan den Dunnen
00420386 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 1 Johan den Dunnen
00420387 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 4 Johan den Dunnen
00420388 - PubMed: Uhrhammer 2006 - - - France - - - - - WRN - 1 5 Johan den Dunnen
00420597 STUTT1010 PubMed: Huang 2006 - - - Germany white - - - - WRN bird-like face, a high-pitched voice, baldness, leg ulcers 2 1 Johan den Dunnen
00420598 JV90700 PubMed: Huang 2006 - - - France white - - - - WRN - 1 1 Johan den Dunnen
00420599 11201 PubMed: Matsumoto 1997 - - - Japan - - - - - WRN - 1 1 Johan den Dunnen
00420600 COC1010 PubMed: Yokote 2017 - - - India - - - - - WRN - 1 1 Johan den Dunnen
00420601 CP70530 PubMed: Huang 2006 - - - France white - - - - WRN - 1 1 Johan den Dunnen
00420602 TIT1010 PubMed: Yokote 2017 - - - Turkey - - - - - WRN - 1 1 Johan den Dunnen
00420603 TORON1010 PubMed: Friedrich 2010 - - - Canada white - - - - WRN - 2 1 Johan den Dunnen
00420604 ROMA1010 PubMed: Huang 2006 - - - Italy white - - - - WRN - 1 1 Johan den Dunnen
00420605 AED80300 PubMed: Friedrich 2010 - - - - Celtic;white - - - - WRN - 2 1 Johan den Dunnen
00420606 AG00780 PubMed: Yu 1997 - - - United States white - - - - WRN - 1 1 Johan den Dunnen
00420607 AG4103 PubMed: Yu 1997 - - - United States white - - - - WRN - 1 1 Johan den Dunnen
00420608 AU1010 PubMed: Friedrich 2010 - - - Austria white - - - - WRN - 1 1 Johan den Dunnen
00420609 BAFG PubMed: Yokote 2017 - - - Germany - - - - - WRN - 2 1 Johan den Dunnen
00420610 CI1010 PubMed: Yokote 2017 - - - Puerto Rico white - - - - WRN - 1 1 Johan den Dunnen
00420611 CLF05010 PubMed: Friedrich 2010 - - - France white - - - - WRN - 3 1 Johan den Dunnen
00420612 CP2650 PubMed: Friedrich 2010 - - - France white - - - - WRN - 1 1 Johan den Dunnen
00420613 CP3 PubMed: Yu 1997 - - - France white - - - - WRN - 1 1 Johan den Dunnen
00420614 DJG PubMed: Yu 1997 - - - Germany white - - - - WRN - 2 1 Johan den Dunnen
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