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Page 1
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Iglesias Garcia L, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Pérez Garrido N, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Paez Nuñez A, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. Among authors: marti ma. J Clin Endocrinol Metab. 2024 Nov 18;109(12):3196-3210. doi: 10.1210/clinem/dgae320. J Clin Endocrinol Metab. 2024. PMID: 38717911
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: marti ma. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: marti ma. Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b. Nat Genet. 2017. PMID: 29074947
The interplay between serine proteases and caspase-1 regulates the autophagy-mediated secretion of Interleukin-1 beta in human neutrophils.
Keitelman IA, Shiromizu CM, Zgajnar NR, Danielián S, Jancic CC, Martí MA, Fuentes F, Yancoski J, Vera Aguilar D, Rosso DA, Goris V, Buda G, Katsicas MM, Galigniana MD, Galletti JG, Sabbione F, Trevani AS. Keitelman IA, et al. Among authors: marti ma. Front Immunol. 2022 Aug 25;13:832306. doi: 10.3389/fimmu.2022.832306. eCollection 2022. Front Immunol. 2022. PMID: 36091026 Free PMC article.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
Rosain J, Bernasconi A, Prieto E, Caputi L, Le Voyer T, Buda G, Marti M, Bohlen J, Neehus AL, Castaños C, Gallagher R, Dorgham K, Oleastro M, Perez L, Danielian S, Dipierri JE, Casanova JL, Bustamante J, Villa M. Rosain J, et al. J Clin Immunol. 2022 Jul;42(5):975-985. doi: 10.1007/s10875-022-01250-4. Epub 2022 Mar 26. J Clin Immunol. 2022. PMID: 35338423 Free PMC article.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Martinez-Mayer J, Brinkmeier ML, O'Connell SP, Ukagwu A, Marti MA, Miras M, Forclaz MV, Benzrihen MG, Cheung LYM, Camper SA, Ellsworth BS, Raetzman LT, Pérez-Millán MI, Davis SW. Martinez-Mayer J, et al. Among authors: marti ma. Genome Med. 2024 May 31;16(1):75. doi: 10.1186/s13073-024-01347-y. Genome Med. 2024. PMID: 38822427 Free PMC article.
174 results