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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 2
2011 4
2012 1
2014 1
2016 1
2017 4
2018 6
2019 4
2020 7
2021 3
2022 2
2023 1
2024 2

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33 results

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Page 1
Clinical consequences of BRCA2 hypomorphism.
Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J. Castells-Roca L, et al. Among authors: aza carmona m. NPJ Breast Cancer. 2021 Sep 9;7(1):117. doi: 10.1038/s41523-021-00322-9. NPJ Breast Cancer. 2021. PMID: 34504103 Free PMC article.
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB. Travessa AM, et al. Among authors: aza carmona m. Eur J Med Genet. 2023 Nov;66(11):104867. doi: 10.1016/j.ejmg.2023.104867. Epub 2023 Oct 13. Eur J Med Genet. 2023. PMID: 37839784
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Among authors: aza carmona m. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
Increased prevalence of Kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
Furlano M, Pilco-Teran M, Pybus M, Martínez V, Aza-Carmona M, Rius A, Pérez-Gomez V, Berná G, Mazo J, Hernández J, Fayos L, Viera E, Gich I, Vergara Pérez H, Gomá Garcés E, Albero Dolon JL, Ars E, Torra R. Furlano M, et al. Among authors: aza carmona m. Nephrol Dial Transplant. 2024 Feb 5:gfae031. doi: 10.1093/ndt/gfae031. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38317457
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: aza carmona m. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE. Rodriguez-Zabala M, et al. Among authors: aza carmona m. Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25. Hum Mutat. 2017. PMID: 28730625
High content drug screening for Fanconi anemia therapeutics.
Montanuy H, Camps-Fajol C, Carreras-Puigvert J, Häggblad M, Lundgren B, Aza-Carmona M, Helleday T, Minguillón J, Surrallés J. Montanuy H, et al. Among authors: aza carmona m. Orphanet J Rare Dis. 2020 Jun 30;15(1):170. doi: 10.1186/s13023-020-01437-1. Orphanet J Rare Dis. 2020. PMID: 32605631 Free PMC article.
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
Hernández G, Ramírez MJ, Minguillón J, Quiles P, Ruiz de Garibay G, Aza-Carmona M, Bogliolo M, Pujol R, Prados-Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J. Hernández G, et al. Among authors: aza carmona m. Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3. Nat Commun. 2018. PMID: 29511213 Free PMC article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: aza carmona m. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
33 results