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

776 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: perrin l. Am J Hum Genet. 2024 Dec 24:S0002-9297(24)00418-X. doi: 10.1016/j.ajhg.2024.11.009. Online ahead of print. Am J Hum Genet. 2024. PMID: 39721588
PIEZO-dependent mechanosensing is essential for intestinal stem cell fate decision and maintenance.
Baghdadi MB, Houtekamer RM, Perrin L, Rao-Bhatia A, Whelen M, Decker L, Bergert M, Pérez-Gonzàlez C, Bouras R, Gropplero G, Loe AKH, Afkhami-Poostchi A, Chen X, Huang X, Descroix S, Wrana JL, Diz-Muñoz A, Gloerich M, Ayyaz A, Matic Vignjevic D, Kim TH. Baghdadi MB, et al. Among authors: perrin l. Science. 2024 Nov 29;386(6725):eadj7615. doi: 10.1126/science.adj7615. Epub 2024 Nov 29. Science. 2024. PMID: 39607940
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: perrin l. Eur J Paediatr Neurol. 2024 Nov 23;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39603091
Ablation of FAS confers allogeneic CD3- CAR T cells with resistance to rejection by T cells and natural killer cells.
Menegatti S, Lopez-Cobo S, Sutra Del Galy A, Fuentealba J, Silva L, Perrin L, Heurtebise-Chrétien S, Pottez-Jouatte V, Darbois A, Burgdorf N, Privat AL, Simon A, Laprie-Sentenac M, Saitakis M, Wick B, Webber BR, Moriarity BS, Lantz O, Amigorena S, Menger L. Menegatti S, et al. Among authors: perrin l. Nat Biomed Eng. 2024 Dec;8(12):1651-1664. doi: 10.1038/s41551-024-01282-8. Epub 2024 Nov 18. Nat Biomed Eng. 2024. PMID: 39558141
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 Nov 25;61(12):1071-1079. doi: 10.1136/jmg-2024-109982. J Med Genet. 2024. PMID: 39358013
Circulating Vesicular-bound HLA-G as Noninvasive Predictive Biomarker of CLAD After Lung Transplantation.
Brugière O, Dreyfuss D, Guilet R, Rong S, Hirschi S, Renaud-Picard B, Reynaud-Gaubert M, Coiffard B, Bunel V, Messika J, Demant X, Le Pavec J, Dauriat G, Saint Raymond C, Falque L, Mornex JF, Tissot A, Lair D, Le Borgne Krams A, Bousseau V, Magnan A, Picard C, Roux A, Glorion M, Carmagnat M, Gazeau F, Aubertin K, Carosella E, Vallée A, Landais C, Rouas-Freiss N, LeMaoult J; COLT Consortium. Brugière O, et al. Transplantation. 2024 Sep 19. doi: 10.1097/TP.0000000000005175. Online ahead of print. Transplantation. 2024. PMID: 39294868
776 results