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

849 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: phan a. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, Barbarot S, Aubert H, Bodet D, Bourrat E, Chiaverini C, Poujade L, Willems M, Rouanet J, Dompmartin-Blanchère A, Geneviève D, Gerard M, Ginglinger E, Hadj-Rabia S, Martin L, Mazereeuw-Hautier J, Bibas N, Molinari N, Herman F, Phan A, Rod J, Roger H, Sigaudy S, Ziegler A, Vial Y, Verloes A, Cavé H, Lacombe D. Bessis D, et al. Among authors: phan a. J Eur Acad Dermatol Venereol. 2024 Apr 10. doi: 10.1111/jdv.19996. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38595321
U.S. Preparedness and Response to Increasing Clade I Mpox Cases in the Democratic Republic of the Congo - United States, 2024.
McQuiston JH, Luce R, Kazadi DM, Bwangandu CN, Mbala-Kingebeni P, Anderson M, Prasher JM, Williams IT, Phan A, Shelus V, Bratcher A, Soke GN, Fonjungo PN, Kabamba J, McCollum AM, Perry R, Rao AK, Doty J, Christensen B, Fuller JA, Baird N, Chaitram J, Brown CK, Kirby AE, Fitter D, Folster JM, Dualeh M, Hartman R, Bart SM, Hughes CM, Nakazawa Y, Sims E; CDC 2024 Clade I Mpox Response Team; Christie A, Hutson CL. McQuiston JH, et al. Among authors: phan a. MMWR Morb Mortal Wkly Rep. 2024 May 16;73(19):435-440. doi: 10.15585/mmwr.mm7319a3. MMWR Morb Mortal Wkly Rep. 2024. PMID: 38753567 Free PMC article.
Genomic and transcriptomic profiling reveals distinct molecular subsets associated with outcomes in mantle cell lymphoma.
Yi S, Yan Y, Jin M, Bhattacharya S, Wang Y, Wu Y, Yang L, Gine E, Clot G, Chen L, Yu Y, Zou D, Wang J, Phan AT, Cui R, Li F, Sun Q, Zhai Q, Wang T, Yu Z, Liu L, Liu W, Lyv R, Sui W, Huang W, Xiong W, Wang H, Li C, Xiao Z, Hao M, Wang J, Cheng T, Bea S, Herrera AF, Danilov A, Campo E, Ngo VN, Qiu L, Wang L. Yi S, et al. Among authors: phan at. J Clin Invest. 2024 May 15;134(10):e182153. doi: 10.1172/JCI182153. J Clin Invest. 2024. PMID: 38747295 Free PMC article. No abstract available.
849 results