Aza-Carmona M - Search Results

1

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. 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.

2

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.

3

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Hum Mutat. 2006 Oct;27(10):1062. doi: 10.1002/humu.9456. Hum Mutat. 2006. PMID: 16941489

4

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE. Aza-Carmona M, et al. Hum Mol Genet. 2011 Apr 15;20(8):1547-59. doi: 10.1093/hmg/ddr032. Epub 2011 Jan 24. Hum Mol Genet. 2011. PMID: 21262861

5

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE. Barca-Tierno V, et al. Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712857 Free PMC article.

6

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Aza-Carmona M, Barreda-Bonis AC, Guerrero-Fernández J, González-Casado I, Gracia R, Heath KE. Aza-Carmona M, et al. J Pediatr Endocrinol Metab. 2011;24(5-6):395-7. doi: 10.1515/jpem.2011.024. J Pediatr Endocrinol Metab. 2011. PMID: 21823545

7

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9. Eur J Hum Genet. 2012. PMID: 22071895 Free PMC article.

8

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE. Aza-Carmona M, et al. PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014. PLoS One. 2014. PMID: 24421874 Free PMC article.

9

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. 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.

10

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-López C, Alonso-Bernáldez M, Barraza-García J, Rodriguez-Zabala M, Lerario AM, Benito-Sanz S, Aza-Carmona M, Campos-Barros A, Jorge AAL, Heath KE. Hisado-Oliva A, et al. Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28. Genet Med. 2018. PMID: 28661490 Free article.

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