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

279 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Ziegler A, et al. Among authors: philippe a. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010604 Free PMC article.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: philippe c, philippe a. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Coursimault J, et al. Among authors: philippe a. Hum Mutat. 2022 Dec;43(12):1882-1897. doi: 10.1002/humu.24438. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842780
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, Conrad S, Crivelli L, Monin P, Fert-Ferrer S, Mortemousque I, Raad S, Lacombe D, Caux F, Sevenet N, Bubien V, Longy M; French Cowden Disease Network. Margot H, et al. J Med Genet. 2024 Oct 2:jmg-2024-109982. doi: 10.1136/jmg-2024-109982. Online ahead of print. J Med Genet. 2024. PMID: 39358013
[Evaluation of a semi-automated test for quantification of von Willebrand multimers].
Peronino C, Rivet N, Itzhar-Baikian N, Philippe A, Joly BS, de Bezieux JR, Martin AC, Luneau S, Veyradier A, Gaussem P, Gendron N, Smadja DM. Peronino C, et al. Among authors: philippe a. Ann Biol Clin (Paris). 2024 Sep 19;82(4):361-375. doi: 10.1684/abc.2024.1903. Ann Biol Clin (Paris). 2024. PMID: 39210589 French.
Evaluation of non-invasive biomarkers of kidney allograft rejection in a prospective multicenter unselected cohort study (EU-TRAIN).
Goutaudier V, Danger R, Catar RA, Racapé M, Philippe A, Elias M, Raynaud M, Aubert O, Bouton D, Girardin F, Vicaut É, Yaiche S, Demotes J, Heidecke H, Taupin JL, Randoux-Lebrun C, Zaidan M, Papuchon E, Le Mai H, Nguyen TV, Moreso F, Berney T, Villard J, Legendre C, Dragun D, Papalois V, Potena L, Giral M, Gourraud PA, Brouard S, Crespo E, Halleck F, Budde K, Bestard O, Loupy A, Lefaucheur C; EU-TRAIN Consortium. Goutaudier V, et al. Among authors: philippe a. Kidney Int. 2024 Nov;106(5):943-960. doi: 10.1016/j.kint.2024.07.027. Epub 2024 Aug 27. Kidney Int. 2024. PMID: 39197587 Free article.
Descriptive epidemiology of 399 histologically confirmed newly diagnosed meningeal solitary fibrous tumours and haemangiopericytomas in France: 2006-2015.
Champeaux Depond C, Zouaoui S, Darlix A, Rigau V, Mathieu-Daudé H, Bauchet F, Khettab M, Trétarre B, Figarella-Branger D, Taillandier L, Boetto J, Pallud J, Peyre M, Lottin M, Bauchet L; French Brain Tumour DataBase (FBTDB) Participants and Investigators with the participation of the Société française de neurochirurgie (SFNC), Club de neuro-oncologie de la société française de neurochirurgie, Société française de neuropathologie (SFNP), Association des neuro-oncologues d’expression française (ANOCEF). Champeaux Depond C, et al. Acta Neurochir (Wien). 2024 Aug 2;166(1):320. doi: 10.1007/s00701-024-06191-y. Acta Neurochir (Wien). 2024. PMID: 39093339
279 results