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

421 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: distefano m. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: distefano m. J Clin Immunol. 2023 Oct;43(7):1566-1580. doi: 10.1007/s10875-023-01517-4. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37273120 Free PMC article.
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: distefano m. J Clin Immunol. 2023 Oct;43(7):1674. doi: 10.1007/s10875-023-01539-y. J Clin Immunol. 2023. PMID: 37341861 Free PMC article. No abstract available.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: distefano mt. Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Improved synthesis and application of an alkyne-functionalized isoprenoid analogue to study the prenylomes of motor neurons, astrocytes and their stem cell progenitors.
Suazo KF, Mishra V, Maity S, Auger SA, Justyna K, Petre AM, Ottoboni L, Ongaro J, Corti SP, Lotti F, Przedborski S, Distefano MD. Suazo KF, et al. Among authors: distefano md. Bioorg Chem. 2024 Apr 16;147:107365. doi: 10.1016/j.bioorg.2024.107365. Online ahead of print. Bioorg Chem. 2024. PMID: 38636436
Improved synthesis and application of an alkyne-functionalized isoprenoid analogue to study the prenylomes of motor neurons, astrocytes and their stem cell progenitors.
Suazo KF, Mishra V, Maity S, Auger SA, Justyna K, Petre A, Ottoboni L, Ongaro J, Corti SP, Lotti F, Przedborski S, Distefano MD. Suazo KF, et al. Among authors: distefano md. bioRxiv [Preprint]. 2024 Mar 6:2024.03.03.583211. doi: 10.1101/2024.03.03.583211. bioRxiv. 2024. PMID: 38496415 Free PMC article. Updated. Preprint.
421 results