Ramos-Arroyo MA - Search Results

1

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Garcia-Solaesa V, Serrano-Lorenzo P, Ramos-Arroyo MA, Blázquez A, Pagola-Lorz I, Artigas-López M, Arenas J, Martín MA, Jericó-Pascual I. Garcia-Solaesa V, et al. Among authors: ramos arroyo ma. Genes (Basel). 2019 Oct 10;10(10):785. doi: 10.3390/genes10100785. Genes (Basel). 2019. PMID: 31658606 Free PMC article.

2

Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.

Bengoa-Alonso A, Artigas-López M, Moreno-Igoa M, Cattalli C, Hernández-Charro B, Ramos-Arroyo MA. Bengoa-Alonso A, et al. Am J Med Genet A. 2016 Jun;170(6):1485-94. doi: 10.1002/ajmg.a.37614. Epub 2016 Mar 17. Am J Med Genet A. 2016. PMID: 26991864 Review.

3

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA. Ruiz de Sabando A, et al. Among authors: ramos arroyo ma. BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x. BMC Cancer. 2019. PMID: 31771539 Free PMC article.

4

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M. Tejada MI, et al. Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28. Biomed Res Int. 2014. PMID: 24987673 Free PMC article.

5

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.

Vicente E, Ruiz de Sabando A, García F, Gastón I, Ardanaz E, Ramos-Arroyo MA. Vicente E, et al. Among authors: ramos arroyo ma. Orphanet J Rare Dis. 2021 Feb 10;16(1):77. doi: 10.1186/s13023-021-01699-3. Orphanet J Rare Dis. 2021. PMID: 33568143 Free PMC article.

6

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA. Moreno-Igoa M, et al. BMC Med Genet. 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0. BMC Med Genet. 2015. PMID: 26293599 Free PMC article.

7

[Demographic characteristics of Down's syndrome in Navarra. Trends of pre and postnatal diagnosis for the period 1991-2009].

Ramos Arroyo MA, Lizarraga Rojas M, Hernández Charro B, Martínez Jaurrieta MD, Zabaleta Jurio J, Alonso Sánchez A. Ramos Arroyo MA, et al. An Sist Sanit Navar. 2013 Sep 6;36(2):241-51. doi: 10.4321/s1137-66272013000200007. An Sist Sanit Navar. 2013. PMID: 24008527 Free article. Spanish.

8

[ACT/AA polymorphism could duplicate the APOE*epsilon4-associated Alzheimer's disease risk].

Hernández-Charro B, Moreno S, Valiente A, Manubens JM, Villar MD, Ramos-Arroyo MA. Hernández-Charro B, et al. Med Clin (Barc). 2004 Sep 4;123(7):251-4. doi: 10.1016/s0025-7753(04)74479-6. Med Clin (Barc). 2004. PMID: 15482730 Spanish.

9

Modifying effect of HLA haplotypes located trans to DQB1*02-DRB1*03 in celiac patients of Southern Europe.

Hernández-Charro B, Donat E, Miner I, Aranburu E, Sánchez-Valverde F, Ramos-Arroyo MA. Hernández-Charro B, et al. Tissue Antigens. 2008 Mar;71(3):213-8. doi: 10.1111/j.1399-0039.2007.01003.x. Tissue Antigens. 2008. PMID: 18257894

10

Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.

Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S. Ramos-Arroyo MA, et al. Am J Med Genet. 1994 Apr 1;50(2):177-9. doi: 10.1002/ajmg.1320500208. Am J Med Genet. 1994. PMID: 8010349

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