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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

136 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
Zouaghi Y, Choudhary AM, Irshad S, Adamo M, Rehman KU, Fatima A, Shahid M, Najmi N, De Azevedo Correa F, Habibi I, Boizot A, Niederländer NJ, Ansar M, Santoni F, Acierno J, Pitteloud N. Zouaghi Y, et al. Among authors: santoni f. BMC Genomics. 2024 Aug 14;25(1):787. doi: 10.1186/s12864-024-10598-3. BMC Genomics. 2024. PMID: 39143522 Free PMC article.
pyTWMR: transcriptome-wide Mendelian randomization in python.
Oreshkov S, Lepik K, Santoni F. Oreshkov S, et al. Among authors: santoni f. Bioinformatics. 2024 Aug 2;40(8):btae505. doi: 10.1093/bioinformatics/btae505. Bioinformatics. 2024. PMID: 39128017 Free PMC article.
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Paracha SA, Nawaz S, Tahir Sarwar M, Shaheen A, Zaman G, Ahmed J, Shah F, Khwaja S, Jan A, Khan N, Kamal MA, Alam Q, Abbas S, Farman S, Waqas A, Alkathiri A, Hamadi A, Santoni F, Ullah N, Khalid B, Antonarakis SE, Fakhro KA, Umair M, Ansar M. Paracha SA, et al. Among authors: santoni f. Front Med (Lausanne). 2024 Aug 30;11:1424753. doi: 10.3389/fmed.2024.1424753. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39281811 Free PMC article.
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CLK, Beckmann MW, Berrington de Gonzalez A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Har… See abstract for full author list ➔ Kentistou KA, et al. Among authors: santoni f. Nat Genet. 2024 Aug;56(8):1763-1764. doi: 10.1038/s41588-024-01857-w. Nat Genet. 2024. PMID: 38982295 Free PMC article. No abstract available.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CLK, Beckmann MW, Berrington de Gonzalez A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Har… See abstract for full author list ➔ Kentistou KA, et al. Among authors: santoni f. Nat Genet. 2024 Jul;56(7):1397-1411. doi: 10.1038/s41588-024-01798-4. Epub 2024 Jul 1. Nat Genet. 2024. PMID: 38951643 Free PMC article.
PD-L1 Expression in Pituitary Neuroendocrine Tumors/Pituitary Adenomas.
Cossu G, La Rosa S, Brouland JP, Pitteloud N, Harel E, Santoni F, Brunner M, Daniel RT, Messerer M. Cossu G, et al. Among authors: santoni f. Cancers (Basel). 2023 Sep 8;15(18):4471. doi: 10.3390/cancers15184471. Cancers (Basel). 2023. PMID: 37760441 Free PMC article.
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: santoni f. 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.
136 results