Works matching DE "GENETIC testing

Results: 5000
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    VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

    Published in:
    Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094
    By:
    • García-Escudero, Paula;
    • López-Gómez, Marta;
    • López, Berta Magallares;
    • Dorta, Alicia García;
    • Frade-Sosa, Beatriz;
    • Lizarzaburu, Meritxell Sallés;
    • Rúa-Figueroa, Íñigo;
    • Fiallo, Dolly Viviana;
    • Miera, Francisco Javier Toyos Sáenz de;
    • Melero-Gonzalez, Rafael Benito;
    • Santos, Diego Dios;
    • Miranda, José Alberto;
    • Belando, Clara García;
    • Boselli, Giuliano;
    • Boteanu, Alina Lucica;
    • Villalobos, Lourdes;
    • Selaya, Cristina Corrales;
    • Santos, Cristiana Sieiro;
    • Álvarez, Elvira Díez;
    • Font, Judit
    Publication type:
    Article
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    Primary adrenal insufficiency in patients with CPOX gene mutations.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 5, p. K31, doi. 10.1093/ejendo/lvaf089
    By:
    • Kelestemur, Elif;
    • Yarar, Murat Hakki;
    • Tosun, Busra Gurpinar;
    • Karaca, Meryem;
    • Goler, Ayse Mine Yilmaz;
    • Yilmaz, Betul Karademir;
    • Yapici, Ozge;
    • Gokcay, Gulden;
    • Guran, Tulay
    Publication type:
    Article
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    An atypical finding of Muir-Torre syndrome: A case report.

    Published in:
    European Journal of Medical Case Reports, 2025, v. 9, n. 4, p. 94, doi. 10.24911/ejmcr.9-2071
    By:
    • Rivera Troia, Felix;
    • Diez Asad, Lara;
    • Oronoz Alcover, Mario;
    • Sanchez-Cordero, Milaris;
    • Ocasio Villa, Fernando
    Publication type:
    Article
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    News Focus.

    Published in:
    Practice Nursing, 2025, v. 36, n. 6, p. 186, doi. 10.12968/pnur.2025.0018
    Publication type:
    Article
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    TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00501-8
    By:
    • de Andrade, Kelvin César;
    • Pinto, Emilia M.;
    • Zhao, Tianna;
    • Zeigler, Logan P.;
    • Kim, Jung;
    • Giri, Neelam;
    • Haley, Jeremy S.;
    • McReynolds, Lisa J.;
    • Florez-Vargas, Oscar;
    • Phillips, Aaron H.;
    • Kriwacki, Richard W.;
    • Akinniyi, Sherifa A.;
    • Cohen, Scott B.;
    • Emerson, Matthew R.;
    • Smelser, Diane T.;
    • Urban, Gretchen M.;
    • Fridman, Cintia;
    • Zambetti, Gerard P.;
    • Bryan, Tracy M.;
    • Carey, David J.
    Publication type:
    Article
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    Type 1 Diabetes Genetics Consortium Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 6, p. 1505, doi. 10.1210/clinem/dgaf181
    By:
    • Onengut-Gumuscu, Suna;
    • Concannon, Patrick;
    • Akolkar, Beena;
    • Erlich, Henry A;
    • Julier, Cécile;
    • Morahan, Grant;
    • Nierras, Concepcion R;
    • Pociot, Flemming;
    • Todd, John A;
    • Rich, Stephen S
    Publication type:
    Article
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    Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524
    By:
    • Männistö, Jonna M E;
    • Hopkins, Jasmin J;
    • Hewat, Thomas I;
    • Nasser, Fatima;
    • Burrage, Joseph;
    • Dastamani, Antonia;
    • Mirante, Alice;
    • Murphy, Nuala;
    • Rzasa, Jessica;
    • Kerkhof, Jennifer;
    • Relator, Raissa;
    • Johnson, Matthew B;
    • Laver, Thomas W;
    • Weymouth, Luke;
    • Houghton, Jayne A L;
    • Wakeling, Matthew N;
    • Sadikovic, Bekim;
    • Dempster, Emma L;
    • Flanagan, Sarah E
    Publication type:
    Article
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    Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1573, doi. 10.1210/clinem/dgae523
    By:
    • Araujo-Castro, Marta;
    • Ruiz-Sánchez, Jorge Gabriel;
    • Gonzalvo, César;
    • Lamas, Cristina;
    • Ramírez, Paola Parra;
    • Marcos-Rojas, Patricia Martín;
    • Paja, Miguel;
    • Lázaro, Cristina Robles;
    • Michalopoulou, Theodora;
    • Tous, María;
    • Gonzalez-Boillos, M;
    • Recio-Córdova, José María;
    • Casteras, Anna;
    • Fernández-Álvarez, Paula;
    • Tierno, Verónica Barca;
    • Mulatero, Paolo
    Publication type:
    Article
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    Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 219, doi. 10.4274/jcrpe.galenos.2023.2023-3-11
    By:
    • González-Rodríguez, Juan D.;
    • Inglés-Torres, Esther Q.;
    • Cabrera-Sevilla, José E.;
    • Ibáñez-Micó, Salvador;
    • Bermejo-Costa, Francisca;
    • Vera-Carbonell, Ascensión;
    • Bafalliu-Vidal, Juan A.;
    • Cortés-Mora, Pedro;
    • Lorente-Nicolás, Ana;
    • Donate-Legaz, José María
    Publication type:
    Article
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