All individuals with variants in gene FMR1

56 entries on 1 page. Showing entries 1 - 56.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 5 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 3 1 Yu Sun
00003130 - - - M no Germany;Poland Caucasian - 0 - - FXS - 1 1 Leila Myrick
00025860 - - - M no Belgium Caucasian >30y 0 - - FXTAS - 1 1 Guy Froyen
00038647 19377188-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond 1 1 Lucy Raymond
00038648 19377189-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond 1 21 Lucy Raymond
00038650 - PubMed: Eichler 1995, Journal: Eichler 1995 analysis 406 random blood donor alleles ? ? - Caucasian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00038651 - PubMed: Eichler 1995, Journal: Eichler 1995 analysis 406 random blood donor alleles ? ? United States African-American - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00081844 - PubMed: Ardui 2016 - M ? (Belgium) ? ? 0 yes - Healthy/Control - 1 1 Simon Ardui
00081845 - PubMed: Ardui 2016 - M ? (Belgium) - ? 0 yes - Healthy/Control - 1 1 Simon Ardui
00081846 - PubMed: Ardui 2016 - M ? (Belgium) - - 0 yes - Healthy/Control - 1 1 Simon Ardui
00081847 - PubMed: Ardui 2016 - M ? (Belgium) - - 0 yes - Healthy/Control - 1 1 Simon Ardui
00081848 - PubMed: Ardui 2016 - M ? (Belgium) - - 0 yes - Healthy/Control - 1 1 Simon Ardui
00081849 - PubMed: Ardui 2016 - M ? (Belgium) - - 0 yes - Healthy/Control - 1 1 Simon Ardui
00081850 - PubMed: Ardui 2016 - M - (Belgium) - - 0 yes - Healthy/Control - 1 1 Simon Ardui
00081851 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081852 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081853 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081854 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081855 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081856 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081857 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081858 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081859 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081860 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081861 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081862 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081863 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081864 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081866 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081867 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - ? - 2 1 Simon Ardui
00081868 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081869 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081870 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081871 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081872 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081873 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081874 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081875 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - - - 2 1 Simon Ardui
00081876 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081877 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081878 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081879 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081880 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081881 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - Healthy/Control - 2 1 Simon Ardui
00081882 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081883 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00081884 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - - - 2 1 Simon Ardui
00081885 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - 2 1 Simon Ardui
00295611 - - - M no France - 04y03m 0 - melatonine FXS Intellectual disability, poor attention span, hyperactivities, stereotypies, anxiety and multiple dysmorphic features 1 1 Thierry Bienvenu
00296773 APN-26 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 3 affected brothers, unaffected carrier mother M - France - - 0 - - ID see paper; ..., severe intellectual disability 1 3 Johan den Dunnen
00299866 - - - M - - - - 0 - - FXS - 1 1 Irma Järvelä
00299867 - - - - - - - - 0 - - FXS - 1 1 Irma Järvelä
00324865 FamInd9 PubMed: Snow 1993 4-generation family M - United States - - 0 - - ID - 1 3 Johan den Dunnen
00324866 FamInd4 PubMed: Snow 1993 mother of Ind9 F - United States - - 0 - - Healthy/Control - 2 1 Johan den Dunnen
00324867 FamInd8 PubMed: Snow 1993 sister Ind9 F - United States - - 0 - - Healthy/Control - 2 1 Johan den Dunnen
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