Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

43 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C, Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X, Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P, Catteau-Jonard S, Niederländer NJ, Ciofi P, Tena-Sempere M, Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F, Giacobini P, Pitteloud N, Prevot V. Chachlaki K, et al. Among authors: acierno j. Sci Transl Med. 2022 Oct 5;14(665):eabh2369. doi: 10.1126/scitranslmed.abh2369. Epub 2022 Oct 5. Sci Transl Med. 2022. PMID: 36197968 Free PMC article.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly J, Messina A, Papadakis G, Cassatella D, Xu C, Acierno JS, Tata B, Sykiotis G, Santini S, Sidis Y, Elowe-Gruau E, Phan-Hug F, Hauschild M, Bouloux PM, Quinton R, Lang-Muritano M, Favre L, Marino L, Giacobini P, Dwyer AA, Niederländer NJ, Pitteloud N. Bouilly J, et al. Among authors: acierno js. Hum Mol Genet. 2018 Jan 15;27(2):359-372. doi: 10.1093/hmg/ddx408. Hum Mol Genet. 2018. PMID: 29202173
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N. Young J, et al. Among authors: acierno js. Endocr Rev. 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. Endocr Rev. 2019. PMID: 30698671 Review.
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J Jr, Niederländer NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JM, Plummer L, Albrecht U, Crowley WF Jr, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N. Xu C, et al. Among authors: acierno j jr. EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376. EMBO Mol Med. 2017. PMID: 28754744 Free PMC article.
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Flück C, Feller K, Bartholdi D, Nemeth A, Halperin I, Pekic Djurdjevic S, Maeder P, Papadakis G, Dwyer AA, Marino L, Favre L, Pignatelli D, Niederländer NJ, Acierno J, Pitteloud N. Xu C, et al. Among authors: acierno j. Genet Med. 2018 Aug;20(8):872-881. doi: 10.1038/gim.2017.197. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144511 Free article.
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Malone SA, Papadakis GE, Messina A, Mimouni NEH, Trova S, Imbernon M, Allet C, Cimino I, Acierno J, Cassatella D, Xu C, Quinton R, Szinnai G, Pigny P, Alonso-Cotchico L, Masgrau L, Maréchal JD, Prevot V, Pitteloud N, Giacobini P. Malone SA, et al. Among authors: acierno j. Elife. 2019 Jul 10;8:e47198. doi: 10.7554/eLife.47198. Elife. 2019. PMID: 31291191 Free PMC article.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Messina A, Pulli K, Santini S, Acierno J, Känsäkoski J, Cassatella D, Xu C, Casoni F, Malone SA, Ternier G, Conte D, Sidis Y, Tommiska J, Vaaralahti K, Dwyer A, Gothilf Y, Merlo GR, Santoni F, Niederländer NJ, Giacobini P, Raivio T, Pitteloud N. Messina A, et al. Among authors: acierno j. Am J Hum Genet. 2020 Jan 2;106(1):58-70. doi: 10.1016/j.ajhg.2019.12.003. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883645 Free PMC article.
GnRH replacement rescues cognition in Down syndrome.
Manfredi-Lozano M, Leysen V, Adamo M, Paiva I, Rovera R, Pignat JM, Timzoura FE, Candlish M, Eddarkaoui S, Malone SA, Silva MSB, Trova S, Imbernon M, Decoster L, Cotellessa L, Tena-Sempere M, Claret M, Paoloni-Giacobino A, Plassard D, Paccou E, Vionnet N, Acierno J, Maceski AM, Lutti A, Pfrieger F, Rasika S, Santoni F, Boehm U, Ciofi P, Buée L, Haddjeri N, Boutillier AL, Kuhle J, Messina A, Draganski B, Giacobini P, Pitteloud N, Prevot V. Manfredi-Lozano M, et al. Among authors: acierno j. Science. 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. Epub 2022 Sep 2. Science. 2022. PMID: 36048943 Free PMC article.
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux PM, Geyter C, Paepe A, Dhillo WS, Ferrara JM, Hauschild M, Lang-Muritano M, Lemke JR, Flück C, Nemeth A, Phan-Hug F, Pignatelli D, Popovic V, Pekic S, Quinton R, Szinnai G, l'Allemand D, Konrad D, Sharif S, Iyidir ÖT, Stevenson BJ, Yang H, Dunkel L, Pitteloud N. Cassatella D, et al. Among authors: acierno js. Eur J Endocrinol. 2018 Apr;178(4):377-388. doi: 10.1530/EJE-17-0568. Epub 2018 Feb 1. Eur J Endocrinol. 2018. PMID: 29419413 Free PMC article.
43 results