All individuals with variants in gene MAGED2

21 entries on 1 page. Showing entries 1 - 21.
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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) 10 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) 10 1 Yu Sun
00173306 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 27 Lucy Raymond
00173307 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 68 Lucy Raymond
00173308 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 68 Lucy Raymond
00173309 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 48 Lucy Raymond
00173310 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 68 Lucy Raymond
00288242 Fam1PatII1 PubMed: Laghmani 2015 3-generation family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - BARTS 19w-onset polyhydramnios; gestational age at delivery 22w; no neonatal survival 1 3 Johan den Dunnen
00288243 Fam1PatII4 PubMed: Laghmani 2015 PatII4 M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 51cm; gestational age at delivery 27w; neonatal survival; polyuria 5w; nephrocalcinosis; indometacin 1y 1 1 Johan den Dunnen
00288244 Fam1PatIII1 PubMed: Laghmani 2015 PatIII1 M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 98cm; gestational age at delivery 31w; neonatal survival; polyuria 1w; nephrocalcinosis; no indometacin 1 1 Johan den Dunnen
00288245 Fam2PatII1 PubMed: Laghmani 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 25w; no neonatal survival; 2 2 Johan den Dunnen
00288247 Fam3PatII1 PubMed: Laghmani 2015 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 34w; neonatal survival; no polyuria; no indometacin 1 3 Johan den Dunnen
00288248 Fam3PatII2 PubMed: Laghmani 2015 PatII2 M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 33w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 9y 1 1 Johan den Dunnen
00288249 Fam3PatII3 PubMed: Laghmani 2015 PatII3 M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 72cm; gestational age at delivery 31w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 3y 1 1 Johan den Dunnen
00288250 Fam4PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - BARTS 20w-onset polyhydramnios; gestational age at delivery 24w; neonatal survival; polyuria 6w; nephrocalcinosis; indometacin 1y 1 1 Johan den Dunnen
00288251 Fam5PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected parents M - - - - 0 - - BARTS 20w-onset polyhydramnios; gestational age at delivery 26w; neonatal survival; polyuria 4w; nephrocalcinosis; no indometacin 1 1 Johan den Dunnen
00288252 Fam6PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected parents M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 40cm; gestational age at delivery 27w; neonatal survival; polyuria 4w; nephrocalcinosis; indometacin 1.2y 1 1 Johan den Dunnen
00288253 Fam7PatII1 PubMed: Laghmani 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 30w; no neonatal survival; 1 2 Johan den Dunnen
00288254 Fam7PatII2 PubMed: Laghmani 2015 PatII2 M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 29w; neonatal survival; polyuria 1w; nephrocalcinosis; indometacin 2.8y 1 1 Johan den Dunnen
00288255 Fam8PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - ? 19w-onset polyhydramnios; amniotic fluid index 36cm; gestational age at delivery 22w; no neonatal survival; 1 1 Johan den Dunnen
00288256 Fam9PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - ? 19w-onset polyhydramnios; amniotic fluid index 36cm; gestational age at delivery 29w; neonatal survival; no polyuia; no nephrocalcinosis; no indometacin 1 1 Johan den Dunnen
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