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

665 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Among authors: lacombe d. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.
Mauhin W, Dzangue-Tchoupou G, Amelin D, Corneau A, Lamari F, Allenbach Y, Dussol B, Leguy-Seguin V, D'Halluin P, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O, Benveniste O. Mauhin W, et al. Among authors: lacombe d. J Inherit Metab Dis. 2024 Apr 16. doi: 10.1002/jimd.12727. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38623626
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: lacombe d. 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
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: lacombe d. HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
[Expand neonatal screening].
Lacombe D, Cottet C, Laugel V. Lacombe D, et al. Rev Prat. 2023 Dec;73(10):1047. Rev Prat. 2023. PMID: 38294462 French. No abstract available.
Inclusion of functional measures and frailty in the development and evaluation of medicines for older adults.
Denkinger M, Knol W, Cherubini A, Simonds A, Lionis C, Lacombe D, Petelos E, McCarthy M, Ouvrard P, Van Kerrebroeck P, Szymański P, Cupelli A, Laslop A, Koch A, Sepodes B, Torre C, Rönnemaa E, Bałkowiec-Iskra E, Herdeiro MT, Rosa MM, Trauffler M, Mirošević Skvrce N, Mayrhofer S, Berntgen M, Silva I, Cerreta F. Denkinger M, et al. Among authors: lacombe d. Lancet Healthy Longev. 2023 Dec;4(12):e724-e729. doi: 10.1016/S2666-7568(23)00208-8. Epub 2023 Nov 15. Lancet Healthy Longev. 2023. PMID: 37977177 Free article. Review.
665 results