1 |
Psychosexual effects resulting from delayed, incomplete, or absent puberty.
61
|
Dwyer AA
|
32524038 |
2020 |
2 |
Distinguishing between hidden testes and anorchia: the role of endocrine evaluation in infancy and childhood.
61
|
Jespersen K...Juul A
|
32422605 |
2020 |
3 |
Nectin-like molecule 2, a necessary sexual maturation regulator, participates in congenital hypogonadotropic hypogonadism.
61
|
Tang R...Chen R
|
32535046 |
2020 |
4 |
Genotypic and phenotypic spectra of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.
61
|
Hou Q...Li JD
|
32520725 |
2020 |
5 |
Pubertal Delay. The challenge of a timely differential diagnosis between Congenital Hypogonadotropic Hypogonadism (CHH) and Constitutional Delay of Growth and Puberty (CDGP): a narrative review.
61
|
Bollino A...Bonomi M
|
32418410 |
2020 |
6 |
Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.
61
|
Zhang Q...Jin P
|
32400067 |
2020 |
7 |
Knocking-down of the Prokineticin receptor 2 affects reveals its complex role in the regulation of the hypothalamus-pituitary-gonadal axis in the zebrafish model.
61
|
Bassi I...Bonomi M
|
32376893 |
2020 |
8 |
Correlations Among Genotype and Outcome in Chinese Male Patients With Congenital Hypogonadotropic Hypogonadism Under HCG Treatment.
61
|
Chen Y...Liu J
|
32171629 |
2020 |
9 |
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
61
|
Butz H...Patocs A
|
32222824 |
2020 |
10 |
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.
61
|
Cangiano B...Bonomi M
|
32200437 |
2020 |
11 |
Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells.
61
|
Lund C...Raivio T
|
31996360 |
2020 |
12 |
Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome.
61
|
Barraud S...Young J
|
32074614 |
2020 |
13 |
Congenital hypogonadotropic hypogonadism/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study.
61
|
Maione L...Young J
|
31770102 |
2020 |
14 |
Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?
61
|
Festa A...Grandone A
|
32508745 |
2020 |
15 |
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
61
|
Gach A...Jakubowski L
|
31996231 |
2020 |
16 |
Efficacy of follitropin-alpha versus human menopausal gonadotropin for male patients with congenital hypogonadotropic hypogonadism.
61
|
Ortac M...Kadioglu A
|
31905120 |
2020 |
17 |
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
61
|
Messina A...Pitteloud N
|
31883645 |
2020 |
18 |
Identification of ROBO1/2 and SCEL as candidate genes in Kallmann syndrome with emerging bioinformatic analysis.
61
|
Zhu Z...Hu F
|
31325086 |
2020 |
19 |
A single-nucleotide polymorphism induced alternative splicing in Tacr3 involves in hypoxic-ischemic brain damage.
61
|
Xue LL...Wang TH
|
31722250 |
2020 |
20 |
Addressing gaps in care of people with conditions affecting sex development and maturation.
61
|
Hiort O...COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo-ERN)
|
31406344 |
2019 |
21 |
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
61
|
Amato LGL...Silveira LFG
|
31200363 |
2019 |
22 |
Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients.
61
|
Hao M...Wu XY
|
31464203 |
2019 |
23 |
Replacement of Male Mini-Puberty.
61
|
Papadimitriou DT...Mastorakos G
|
31240270 |
2019 |
24 |
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
61
|
Malone SA...Giacobini P
|
31291191 |
2019 |
25 |
Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates.
61
|
Raivio T...Miettinen PJ
|
31522908 |
2019 |
26 |
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.
61
|
Moalla M...Hadj Kacem H
|
31073722 |
2019 |
27 |
Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys.
61
|
Kohva E...Raivio T
|
31067328 |
2019 |
28 |
Testosterone replacement in congenital hypogonadotropic hypogonadism maintains bone density but has only limited osteoanabolic effects.
61
|
Antonio L...Vanderschueren D
|
30851011 |
2019 |
29 |
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients.
61
|
Iivonen AP...Raivio T
|
30999277 |
2019 |
30 |
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
61
|
Nagaraja MR...Amanchy R
|
30550360 |
2019 |
31 |
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
61
|
Young J...Pitteloud N
|
30698671 |
2019 |
32 |
Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility.
61
|
Xu HY...Li R
|
30381580 |
2019 |
33 |
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.
61
|
Goncalves CI...Lemos MC
|
30733481 |
2019 |
34 |
Glu2.53(90) of the GnRH receptor is part of the conserved G protein-coupled receptor structure and does not form a salt-bridge with Lys3.32(121).
61
|
Manilall A...Flanagan CA
|
30476558 |
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 |
The Genetic Basis of Delayed Puberty.
61
|
Howard SR
|
31293522 |
2019 |
37 |
The Pulsatile Gonadorelin Pump Induces Earlier Spermatogenesis Than Cyclical Gonadotropin Therapy in Congenital Hypogonadotropic Hypogonadism Men.
61
|
Zhang L...Liao Z
|
30569789 |
2019 |
38 |
Gonadotropin-Induced Spermatogenesis in CHH Patients with Cryptorchidism.
61
|
Liu Z...Wu X
|
31929795 |
2019 |
39 |
Psychological Aspects of Congenital Hypogonadotropic Hypogonadism.
61
|
Dwyer AA...Quinton R
|
31333578 |
2019 |
40 |
Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
61
|
Hussain HMJ...Xu Z
|
30947225 |
2019 |
41 |
Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.
61
|
Kohva E...Raivio T
|
30519672 |
2018 |
42 |
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.
61
|
Hugon-Rodin J...de Roux N
|
30124894 |
2018 |
43 |
Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis.
61
|
Gao Y...Wu X
|
30453944 |
2018 |
44 |
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
61
|
Xu C...Pitteloud N
|
29144511 |
2018 |
45 |
Predictive factors for pituitary response to pulsatile GnRH therapy in patients with congenital hypogonadotropic hypogonadism.
61
|
Mao JF...Wu XY
|
29516878 |
2018 |
46 |
[Diagnosis and management of adult-onset idiopathic hypogonadotropic hypogonadism].
61
|
Mao JF...Wu XY
|
29886652 |
2018 |
47 |
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
61
|
Cassatella D...Pitteloud N
|
29419413 |
2018 |
48 |
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
61
|
Maione L...Young J
|
29330225 |
2018 |
49 |
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism.
61
|
Chakraborty PP...Chowdhury S
|
29146774 |
2018 |
50 |
Health-related physical fitness and quality of life in men with congenital hypogonadotropic hypogonadism.
61
|
Mileski KSL...Lofrano-Porto A
|
29430665 |
2018 |