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Page 1
Germline mutations in a G protein identify signaling cross-talk in T cells.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Ham H, et al. Among authors: trivellin g. Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947. Epub 2024 Sep 20. Science. 2024. PMID: 39298586
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg JH, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannavò S, Pétrossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M. Daly AF, et al. Among authors: trivellin g. Genome Med. 2024 Sep 13;16(1):112. doi: 10.1186/s13073-024-01378-5. Genome Med. 2024. PMID: 39272130 Free PMC article.
Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.
Caruso M, Mazzatenta D, Asioli S, Costanza G, Trivellin G, Franke M, Abboud D, Hanson J, Raverot V, Pétrossians P, Beckers A, Cappa M, Daly AF. Caruso M, et al. Among authors: trivellin g. Front Endocrinol (Lausanne). 2024 Feb 28;15:1345363. doi: 10.3389/fendo.2024.1345363. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38481440 Free PMC article.
Correction: FAF1 Gene Involvement in Pituitary Corticotroph Tumors.
Nguyen M, Maria AG, Faucz FR, Trivellin G, Stratakis CA, Tatsi C. Nguyen M, et al. Among authors: trivellin g. Horm Metab Res. 2024 Aug;56(8):e1. doi: 10.1055/a-2229-4823. Epub 2024 Jan 8. Horm Metab Res. 2024. PMID: 38190978 No abstract available.
PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.
De Sousa SMC, Shen A, Yates CJ, Clifton-Bligh R, Santoreneos S, King J, Toubia J, Trivellin G, Lania AG, Stratakis CA, Torpy DJ, Scott HS. De Sousa SMC, et al. Among authors: trivellin g. Front Endocrinol (Lausanne). 2023 Nov 23;14:1305606. doi: 10.3389/fendo.2023.1305606. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38075079 Free PMC article.
FAF1 Gene Involvement in Pituitary Corticotroph Tumors.
Nguyen M, Maria AG, Faucz FR, Trivellin G, Stratakis CA, Tatsi C. Nguyen M, et al. Among authors: trivellin g. Horm Metab Res. 2024 Aug;56(8):604-610. doi: 10.1055/a-2192-1761. Epub 2023 Dec 8. Horm Metab Res. 2024. PMID: 38065537
80 results