|
rs104893836
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor.
|
19449676 |
2009 |
|
rs104893836
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
|
10999776 |
2000 |
|
rs1204919376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene.
|
26845730 |
2016 |
|
rs139767835
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene.
|
26845730 |
2016 |
|
rs1800053
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene.
|
26845730 |
2016 |
|
rs267607165
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism).
|
25559402 |
2015 |
|
rs104893844
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In humans, E90K causes severe HH by preventing formation of the E90-K121 salt bridge, which is essential for correct folding.
|
22918878 |
2012 |
|
rs74315418
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our goal was to determine whether variants in the first intracellular loop (ICL1) of PROKR2 (R80C, R85C, and R85H) identified in patients with hypogonadotropic hypogonadism interfere with receptor function and to elucidate the mechanisms of these effects.
|
22745195 |
2012 |
|
rs771470596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In humans, E90K causes severe HH by preventing formation of the E90-K121 salt bridge, which is essential for correct folding.
|
22918878 |
2012 |
|
rs750566506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism.
|
21277937 |
2011 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C.
|
20449891 |
2010 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we present the first report of JAK2 V617F-positive ET in a patient with KS, as well as a review of the relevant literature.
|
20362232 |
2010 |
|
rs148499544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor.
|
19449676 |
2009 |
|
rs78861628
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In PROKR2, four distinct mutations (p.R80C, p.Y140X, p.L173R, and p.R268C) were identified in five patients with Kallmann syndrome and in one patient with normosmic HH.
|
18682503 |
2008 |
|
rs1800447
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two hundred and two adults (115 women) with normal sexual function and 48 patients (24 women) with hypogonadotropic hypogonadism underwent a molecular study of the the luteinizing hormone beta-subunit gene using a polymerase chain reaction technique followed by enzymatic digestion with the restriction enzymes Nco I (for detection of the Trp8Arg point mutation) and Fok I (for detection of the Ile15Thr point mutation).
|
16358135 |
2005 |
|
rs34349826
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two hundred and two adults (115 women) with normal sexual function and 48 patients (24 women) with hypogonadotropic hypogonadism underwent a molecular study of the the luteinizing hormone beta-subunit gene using a polymerase chain reaction technique followed by enzymatic digestion with the restriction enzymes Nco I (for detection of the Trp8Arg point mutation) and Fok I (for detection of the Ile15Thr point mutation).
|
16358135 |
2005 |
|
rs74452732
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
|
12679486 |
2003 |
|
rs104894897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism.
|
11443184 |
2001 |
|
rs28935481
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a missense mutation (N440I) in three patients with AHC and HHG, all belonging to a large Greenlandic family.
|
9003500 |
1997 |