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Items: 48

1.

[Spanish rare disease registries research network: first results of Spain-RDR's project in Navarre].

Vicente E, Guevara M, Lasanta MJ, Ramos-Arroyo MA, Ardanaz E.

An Sist Sanit Navar. 2019 Aug 23;42(2):179-186. doi: 10.23938/ASSN.0636. Spanish.

2.

Clinical manifestations of homozygote allele carriers in Huntington disease.

Cubo E, Martinez-Horta SI, Santalo FS, Descalls AM, Calvo S, Gil-Polo C, Muñoz I, Llano K, Mariscal N, Diaz D, Gutierrez A, Aguado L, Ramos-Arroyo MA; European HD Network.

Neurology. 2019 Apr 30;92(18):e2101-e2108. doi: 10.1212/WNL.0000000000007147. Epub 2019 Mar 13.

PMID:
30867264
3.

[Implementing a population-based rare diseases registry in Spain: the Navarre´s experience].

Vicente E, Guevara M, Lasanta MJ, Ramos-Arroyo MA, Ardanaz E.

Rev Esp Salud Publica. 2018 Nov 19;92. pii: e201811082. Spanish.

4.

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G, Puig-Butille JA, Gimenez-Xavier P, Segu-Roig A, Potrony M, Badenas C, Alvarez V, Millán JM, Trujillo-Tiebas MJ, Ramos-Arroyo MA, Milà M, Puig S.

Mol Neurobiol. 2017 Jul;54(5):3906-3910. doi: 10.1007/s12035-016-0305-5. Epub 2016 Dec 6.

PMID:
27924526
5.

Clinical manifestations of intermediate allele carriers in Huntington disease.

Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network.

Neurology. 2016 Aug 9;87(6):571-8. doi: 10.1212/WNL.0000000000002944. Epub 2016 Jul 8.

PMID:
27402890
6.

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.

Am J Med Genet A. 2016 Jun;170(6):1485-94. doi: 10.1002/ajmg.a.37614. Epub 2016 Mar 17. Review.

PMID:
26991864
7.

Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene.

Santesteban Muruzábal R, Larumbe Irurzun A, Yanguas Bayona I, Ramos Arroyo MA.

Actas Dermosifiliogr. 2016 Jun;107(5):433-5. doi: 10.1016/j.ad.2015.10.014. Epub 2016 Feb 24. English, Spanish. No abstract available.

PMID:
26922124
8.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT.

Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12.

9.

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.

BMC Med Genet. 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0.

10.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.

11.

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.

Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28.

12.

[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.

An Sist Sanit Navar. 2013 Sep 6;36(2):241-51. Spanish.

13.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

García-García G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinós C, Rosell J, Olea JL, Mendívil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millán JM.

Mol Vis. 2012;18:3070-8. Epub 2012 Dec 29.

14.

[Recommendations of good practices for molecular diagnosis of Huntington disease].

Ramos Arroyo MA, Trujillo-Tiebas MJ, Milá M; Grupo AEGH/CIBERER.

Med Clin (Barc). 2012 May 12;138(13):584-8. doi: 10.1016/j.medcli.2011.03.001. Epub 2011 Apr 27. Spanish. No abstract available.

PMID:
21524764
15.

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D.

Am J Med Genet A. 2010 May;152A(5):1213-24. doi: 10.1002/ajmg.a.33344.

PMID:
20425826
16.

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

Ramos-Arroyo MA, Hualde J, Ayechu A, De Meirleir L, Seneca S, Nadal N, Briones P.

Clin Genet. 2009 Jun;75(6):585-7. doi: 10.1111/j.1399-0004.2009.01160.x. No abstract available.

PMID:
19508421
17.

Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.

Brocklebank D, Gayán J, Andresen JM, Roberts SA, Young AB, Snodgrass SR, Penney JB, Ramos-Arroyo MA, Cha JJ, Rosas HD, Hersch SM, Feigin A, Cherny SS, Wexler NS, Housman DE, Cardon LR; International-Venezuela Collaborative Research Group.

Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):425-9. doi: 10.1002/ajmg.b.30826.

18.

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome.

Tejada MI, García-Alegría E, Bilbao A, Martínez-Bouzas C, Beristain E, Poch M, Ramos-Arroyo MA, López B, Fernandez Carvajal I, Ribate MP, Ramos F.

Menopause. 2008 Sep-Oct;15(5):945-9. doi: 10.1097/gme.0b013e3181647762.

PMID:
18427356
19.

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.

Tissue Antigens. 2008 Mar;71(3):213-8. doi: 10.1111/j.1399-0039.2007.01003.x.

PMID:
18257894
20.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM.

Hum Mutat. 2008 Jan;29(1):150-8.

PMID:
17935213
21.

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G.

Neuromuscul Disord. 2007 Aug;17(8):624-30. Epub 2007 Jun 22.

PMID:
17587580
22.

Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).

Ortiz L, Costa AF, Bellido ML, Solano F, García-Moreno JM, Gamero MA, Izquierdo G, Chadli A, Falcao F, Ferro J, Salas J, Alvarez-Cermeño JC, Montori M, Ramos-Arroyo MA, Palomino A, Pintado E, Lucas M.

J Neurol. 2007 Mar;254(3):322-6. Epub 2007 Mar 7.

PMID:
17345049
23.

[Genetic mechanisms in the hereditary predisposition to colorectal cancer].

Alonso A, Moreno S, Valiente A, Artigas M, Pérez-Juana A, Ramos Arroyo MA.

An Sist Sanit Navar. 2006 Jan-Apr;29(1):59-76. Review. Spanish.

24.

Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.

Ramos-Arroyo MA, Moreno S, Valiente A.

J Neurol Neurosurg Psychiatry. 2005 Mar;76(3):337-42.

25.

[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.

Med Clin (Barc). 2004 Sep 4;123(7):251-4. Spanish.

PMID:
15482730
26.

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.

Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project.

Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3498-503. Epub 2004 Mar 1.

27.

Heat-shock protein 70-1 and HLA class II gene polymorphisms associated with celiac disease susceptibility in Navarra (Spain).

Ramos-Arroyo MA, Feijoó E, Sánchez-Valverde F, Aranburu E, Irisarri N, Olivera JE, Valiente A.

Hum Immunol. 2001 Aug;62(8):821-5.

PMID:
11476906
28.

Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia.

Ramos-Arroyo MA, Valiente A, Rodriguez-Toral E, Alonso AM, Moreno S, Weaver DD.

Am J Med Genet. 2000 Nov 27;95(3):237-40.

PMID:
11102930
29.

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.

Nadal M, Valiente A, Domènech A, Pritchard M, Estivill X, Ramos-Arroyo MA.

J Med Genet. 2000 May;37(5):396-8. No abstract available.

30.

[Genetic counseling in neurology: practical and ethical considerations].

Ramos-Arroyo MA.

Neurologia. 1998 Mar;13(3):126-31. Review. Spanish. No abstract available.

PMID:
9608220
31.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Grinberg D.

J Med Genet. 1998 Feb;35(2):141-5.

32.

Genetic services in Spain.

Ramos-Arroyo MA, Benitez J, Estivill J.

Eur J Hum Genet. 1997;5 Suppl 2:163-8. No abstract available.

PMID:
9450217
33.
34.

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P, et al.

Hum Mutat. 1995;5(3):228-34.

PMID:
7599633
35.

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

Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S.

Am J Med Genet. 1994 Apr 1;50(2):177-9.

PMID:
8010349
36.

Maternal diabetes: the risk for specific birth defects.

Ramos-Arroyo MA, Rodriguez-Pinilla E, Cordero JF.

Eur J Epidemiol. 1992 Jul;8(4):503-8.

PMID:
1397216
37.

Weaver syndrome: a case without early overgrowth and review of the literature.

Ramos-Arroyo MA, Weaver DD, Banks ER.

Pediatrics. 1991 Dec;88(6):1106-11. Review.

PMID:
1956726
38.

Birth defects in twins: study in a Spanish population.

Ramos-Arroyo MA.

Acta Genet Med Gemellol (Roma). 1991;40(3-4):337-44.

PMID:
1821510
39.

The role of mitochondrial DNA in Huntington's disease.

Irwin CC, Wexler NS, Young AB, Ozelius LJ, Penney JB, Shoulson I, Snodgrass SR, Ramos-Arroyo MA, Sanchez-Ramos J, Penchaszadeh GK, et al.

J Mol Neurosci. 1989;1(2):129-36.

PMID:
2534902
40.

Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution.

Martínez-Frías ML, Herranz I, Salvador J, Prieto L, Ramos-Arroyo MA, Rodríguez-Pinilla E, Cordero JF.

Am J Med Genet. 1988 Dec;31(4):845-52.

PMID:
3239577
41.

Thanatophoric dysplasia: an autosomal dominant condition?

Martínez-Frías ML, Ramos-Arroyo MA, Salvador J.

Am J Med Genet. 1988 Dec;31(4):815-20.

PMID:
3239573
42.

[Determining factors in the intrauterine development of twins: possible effect of gestational age, sex and type of twins].

Ramos-Arroyo MA, Rodríguez-Pinilla E, Marcos Herrero F, Martínez Frías ML.

An Esp Pediatr. 1988 Aug;29(2):127-31. Spanish.

PMID:
3190017
43.

Twin study: relationship between birth weight, zygosity, placentation, and pathologic placental changes.

Ramos-Arroyo MA, Ulbright TM, Yu PL, Christian JC.

Acta Genet Med Gemellol (Roma). 1988;37(3-4):229-38.

PMID:
3254015
44.
45.

Homozygotes for Huntington's disease.

Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, Snodgrass SR, Shoulson I, Gomez F, Ramos Arroyo MA, et al.

Nature. 1987 Mar 12-18;326(6109):194-7.

46.
47.

Huntington's disease in Venezuela: neurologic features and functional decline.

Young AB, Shoulson I, Penney JB, Starosta-Rubinstein S, Gomez F, Travers H, Ramos-Arroyo MA, Snodgrass SR, Bonilla E, Moreno H, et al.

Neurology. 1986 Feb;36(2):244-9.

PMID:
2935747
48.

Congenital contractural arachnodactyly. Report of four additional families and review of literature.

Ramos Arroyo MA, Weaver DD, Beals RK.

Clin Genet. 1985 Jun;27(6):570-81.

PMID:
4017278

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