1 |
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
6
|
Gianetti E...Seminara SB
|
22745237 |
2012 |
2 |
Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
6
|
Topaloglu AK...Yuksel B
|
22335740 |
2012 |
3 |
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
6
|
Gianetti E...Seminara SB
|
20332248 |
2010 |
4 |
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
6
|
Bouligand J...Young J
|
19535795 |
2009 |
5 |
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
6
|
Pitteloud N...Crowley W
|
17235395 |
2007 |
6 |
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
6
|
Lin L...Achermann JC
|
16968799 |
2006 |
7 |
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.
6
|
Meysing AU...Kaiser UB
|
15240592 |
2004 |
8 |
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
6
|
Karges B...de Roux N
|
12679486 |
2003 |
9 |
Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout".
6
|
Silveira LF...MacColl GS
|
12050282 |
2002 |
10 |
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
6
|
Maya-Nunez G...Mendez JP
|
11994356 |
2002 |
11 |
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
6
|
Costa EM...Latronico AC
|
11397871 |
2001 |
12 |
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
6
|
Pitteloud N...Hayes FJ
|
11397842 |
2001 |
13 |
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
6
|
Soderlund D...Mendez JP
|
11318785 |
2001 |
14 |
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.
6
|
Kottler ML...Counis R
|
10999776 |
2000 |
15 |
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.
6
|
Seminara SB...Hall JE
|
10690855 |
2000 |
16 |
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
6
|
Pralong FP...Gaillard RC
|
10523035 |
1999 |
17 |
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
6
|
Caron P...Kottler ML
|
10084584 |
1999 |
18 |
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred.
6
|
de Roux N...Schaison G
|
10022417 |
1999 |
19 |
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
6
|
Layman LC...Neill JD
|
9425890 |
1998 |
20 |
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
6
|
de Roux N...Milgrom E
|
9371856 |
1997 |
21 |
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
61
|
Rojas RA...Balasubramanian R
|
33442024 |
2021 |
22 |
Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.
61
|
Valsassina R...Limbert C
|
33363893 |
2020 |
23 |
The wonderful and masterful G protein-coupled receptor (GPCR): A focus on signaling mechanisms and the neuroendocrine control of fertility.
61
|
Babwah AV
|
32574585 |
2020 |
24 |
Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant.
61
|
Choe J...Lee J
|
32871658 |
2020 |
25 |
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.
61
|
Brachet C...Heinrichs C
|
32813678 |
2020 |
26 |
Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency.
61
|
Choi JH...Yoo HW
|
32485746 |
2020 |
27 |
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
61
|
Xu W...Balasubramanian R
|
32376645 |
2020 |
28 |
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.
61
|
Geng D...Zhang G
|
31821609 |
2020 |
29 |
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings.
61
|
Sagi SV...Oyibo SO
|
32134721 |
2020 |
30 |
A single-nucleotide polymorphism induced alternative splicing in Tacr3 involves in hypoxic-ischemic brain damage.
61
|
Xue LL...Wang TH
|
31722250 |
2020 |
31 |
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
61
|
Kim JH...Choi JH
|
30216942 |
2019 |
32 |
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.
61
|
Moalla M...Hadj Kacem H
|
31073722 |
2019 |
33 |
The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study.
61
|
Etoga MCE...Sobngwi E
|
31448010 |
2019 |
34 |
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.
61
|
Alzahrani AJ...Ahmad L
|
31885997 |
2019 |
35 |
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
61
|
Cioppi F...Krausz C
|
30575316 |
2019 |
36 |
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.
61
|
Hugon-Rodin J...de Roux N
|
30124894 |
2018 |
37 |
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
61
|
Stamou MI...Georgopoulos NA
|
29108899 |
2018 |
38 |
The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP).
61
|
Leka-Emiri S...Kanaka-Gantenbein C
|
28251550 |
2017 |
39 |
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
61
|
Goncalves CI...Lemos MC
|
28611058 |
2017 |
40 |
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene.
61
|
Li J...Wang X
|
26862482 |
2016 |
41 |
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.
61
|
Mengen E...Topaloglu AK
|
26595427 |
2016 |
42 |
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
61
|
Goncalves C...Lemos MC
|
26277103 |
2015 |
43 |
Pulsatile GnRH Is Superior to hCG in Therapeutic Efficacy in Adolescent Boys With Hypogonadotropic Hypogonadodism.
61
|
Gong C...Wang X
|
25978110 |
2015 |
44 |
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.
61
|
Demirbilek H...Topaloglu AK
|
25262569 |
2015 |
45 |
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.
61
|
Shin SJ...Yoo HW
|
25883924 |
2015 |
46 |
Sex steroids, precursors, and metabolite deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative study.
61
|
Giton F...Young J
|
25393641 |
2015 |
47 |
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.
61
|
Mendez JP...Canto P
|
25531638 |
2015 |
48 |
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.
61
|
Wang XL...Shan ZY
|
25501157 |
2014 |
49 |
Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism.
61
|
Salian-Mehta S...Wierman ME
|
24476074 |
2014 |
50 |
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.
61
|
Brioude F...Guiochon-Mantel A
|
23349759 |
2013 |