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2,197 results

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Page 1
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Among authors: gomes c. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T. Thauvin-Robinet C, et al. Among authors: gomes c. Clin Genet. 2013 Jul;84(1):86-90. doi: 10.1111/cge.12013. Epub 2012 Oct 4. Clin Genet. 2013. PMID: 23036093 No abstract available.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: gomes c. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
RETHINKING LOW TESTOSTERONE IN OLDER MEN: ASSOCIATION WITH OBESITY RATHER THAN AGING.
Tiraboschi TLN, Miranda EP, Novaes MT, Silva CS, Contreras JCZ, Filho JSR, Reggio E, Suartz CV, Gomes CM, de Bessa J Junior. Tiraboschi TLN, et al. Among authors: gomes cm. Urology. 2025 Jan 10:S0090-4295(24)01224-X. doi: 10.1016/j.urology.2024.12.036. Online ahead of print. Urology. 2025. PMID: 39800323
Systematic review of outcome measures used in support programs designed to enhance the functioning for autistic children and adolescents and ICF content mapping.
de Oliveira LC, Janizello GP, Santos IS, de Oliveira N, Carvalho DB, Napoli SB, Schiariti V, Gomes CAFP, Silva SM. de Oliveira LC, et al. Among authors: gomes cafp. Disabil Rehabil. 2025 Jan 11:1-25. doi: 10.1080/09638288.2025.2450050. Online ahead of print. Disabil Rehabil. 2025. PMID: 39797616 Review.
Evaluation of Bone Biomarkers in Renal Osteodystrophy.
Pichone A, Gomes CP, Moreira CA, Farias MLF, Leite M Jr. Pichone A, et al. Among authors: gomes cp. Life (Basel). 2024 Nov 25;14(12):1540. doi: 10.3390/life14121540. Life (Basel). 2024. PMID: 39768249 Free PMC article.
Ref-1 is overexpressed in neovascular eye disease and targetable with a novel inhibitor.
Muniyandi A, Hartman GD, Sishtla K, Rai R, Gomes C, Day K, Song Y, Masters AR, Quinney SK, Qi X, Woods H, Boulton ME, Meyer JS, Vilseck JZ, Georgiadis MM, Kelley MR, Corson TW. Muniyandi A, et al. Among authors: gomes c. Angiogenesis. 2025 Jan 5;28(1):11. doi: 10.1007/s10456-024-09966-0. Angiogenesis. 2025. PMID: 39756006
2,197 results