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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 3
2020 7
2021 3
2022 1
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28 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.
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.
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Braslavsky D, Scaglia P, Sanguineti N, Aza-Carmona M, Nevado Blanco J, Lapunzina Badia PD, Fernández MDC, Ruiz O, Carmona A, Szlago M, Arberas C, Cassinelli H, Heath K, Rey R, Bergadá I. Braslavsky D, et al. Among authors: aza carmona m. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
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, Dhahrabi HAM, 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. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057030 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, Dhahrabi HAM, 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. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. Am J Hum Genet. 2018. PMID: 30193137 Free PMC article. No abstract available.
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
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. Among authors: aza carmona m. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE. Sentchordi-Montané L, et al. Among authors: aza carmona m. Eur J Endocrinol. 2021 Oct 11;185(5):691-705. doi: 10.1530/EJE-21-0557. Eur J Endocrinol. 2021. PMID: 34516402
Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.
Illescas T, Mansilla E, Herrero B, Rodríguez R, López F, Aza-Carmona M, Regojo RM, Santos-Simarro F, Heath KE, Bartha JL, Antolín E. Illescas T, et al. Among authors: aza carmona m. Eur J Obstet Gynecol Reprod Biol. 2020 Jul;250:209-215. doi: 10.1016/j.ejogrb.2020.05.009. Epub 2020 May 19. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32470698
28 results