| 1 |
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. ( 31073722
)
|
Moalla M...Hadj Kacem H
|
2019 |
| 2 |
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942
)
|
Kim JH...Choi JH
|
2018 |
| 3 |
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058
)
|
Gon?alves CI...Lemos MC
|
2017 |
| 4 |
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103
)
|
Gon?alves C...Lemos MC
|
2015 |
| 5 |
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. ( 25262569
)
|
Demirbilek H...Topaloglu AK
|
2015 |
| 6 |
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. ( 25531638
)
|
M?ndez JP...Canto P
|
2015 |
| 7 |
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924
)
|
Shin SJ...Yoo HW
|
2015 |
| 8 |
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. ( 25501157
)
|
Wang XL...Shan ZY
|
2014 |
| 9 |
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation. ( 23349759
)
|
Brioude F...Guiochon-Mantel A
|
2013 |
| 10 |
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935
)
|
Fathi AK...Luo X
|
2013 |
| 11 |
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261
)
|
G?rb?z F...Topalo?lu AK
|
2012 |
| 12 |
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250
)
|
Shekhar S
|
2012 |
| 13 |
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. ( 22031817
)
|
Francou B...Young J
|
2011 |
| 14 |
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. ( 19820032
)
|
Raivio T...Pitteloud N
|
2009 |
| 15 |
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 28199515
)
|
Raivio T...Pitteloud N
|
2009 |
| 16 |
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China. ( 19734936
)
|
Tang KF...Xing JP
|
2009 |
| 17 |
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. ( 17959774
)
|
Pitteloud N...Crowley WF
|
2007 |
| 18 |
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. ( 16606836
)
|
Pitteloud N...Crowley WF
|
2006 |
Rare infertility disorders
