All individuals with variants in gene IGSF1

43 entries on 1 page. Showing entries 1 - 43.
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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) 18 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) 18 1 Yu Sun
00115028 - PubMed: Nakamura, Akie carrier, mother of patient 4 F no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115029 - PubMed: Nakamura, Akie carrier, mother of patient 3 F ? Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115030 - PubMed: Nakamura, Akie carrier, mother of patient 1 F no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115031 - PubMed: Nakamura, Akie - M - Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115032 19377346-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00115033 19377347-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 55 Lucy Raymond
00115034 19377348-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00115035 19377349-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00115036 19377350-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 42 Lucy Raymond
00115037 19377351-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00115038 19377352-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00115039 19377353-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00115040 19377354-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX; for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 58 Lucy Raymond
00115041 - {DOI10.1038/ng.2453:Sun 2012} E-IV.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115042 - - E-IV.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115043 - - F-IV.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115044 - - F-IV.2 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115045 - - F-II.8 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115046 - PubMed: Nakamura, Akie patient 4 M no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115047 - - - M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115048 - - A-II.4 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115049 - - A-I.4 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115050 - - C-III.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115051 - - D-III.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115052 - - D-III.4 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115053 - - D-I.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115054 - - K-II.3 M no Italy - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115055 - - G-III.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115056 - - G-III.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115057 - {DOI10.1038/ng.2453:Sun 2012} G-I.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115058 - - H-III.2 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115059 - - H-III.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115060 - - B-III.7 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115061 - - B-III.8 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115062 - - B-II.11 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115063 - - B-I.4 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115064 - PubMed: Nakamura, Akie patient 3 M no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115065 - PubMed: Tajima, Toshihiro - M - Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115066 - - I-III.2 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
00115067 - PubMed: Nakamura, Akie patient 1 M no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 1 1 Yu Sun
00115068 - {DOI10.1038/ng.2453:Sun 2012} J-III.1 M no Italy - - 0 - - CHTE central hypothyroidism; testicular enlargement 1 1 Yu Sun
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