M. Ramos-Arroyo

发表

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

Karen Marder, Norman Arnheim, Ira Shoulson, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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

E. Ardanaz, M. Ramos-Arroyo, I. Gastón, 2021, Orphanet Journal of Rare Diseases.

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

B. Gener, E. Anda, R. Rodríguez-López, 2018, BMC Medical Genetics.

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

F. Sánchez-Valverde, N. Irisarri, M. Ramos-Arroyo, 2001, Human immunology.

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

E. Ardanaz, M. Guevara, M. Ramos-Arroyo, 2018, Revista espanola de salud publica.

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

T. Ulbright, J. Christian, M. Ramos-Arroyo, 1988, Acta geneticae medicae et gemellologiae.

Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY

Alexander Münchau, Caroline Hallam, Andrea Ciarmiello, 2011, PLoS currents.

Clinical manifestations of homozygote allele carriers in Huntington disease

S. Martínez-Horta, E. Cubo, Dolores Diaz, 2019, Neurology.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

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

M. Moreno-Igoa, M. Ramos-Arroyo, B. Hernández-Charro, 2015, BMC Medical Genetics.

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

Miguel A. Preciado, X. Estivill, M. Nadal, 1997, Journal of medical genetics.

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

E. Ardanaz, M. Ramos-Arroyo, Ainara Ruiz de Sabando, 2019, BMC Cancer.

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

R. Siebert, G. Mortier, B. Menten, 2010, American journal of medical genetics. Part A.

Thanatophoric dysplasia: an autosomal dominant condition?

M. Martinez-frias, M. Ramos-Arroyo, J. Salvador, 1988, American journal of medical genetics.

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

P. Tonella, B. Conrad, J. Hardelin, 2010, The Journal of clinical endocrinology and metabolism.

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

M. Tejada, F. Ramos, A. Bilbao, 2008, Menopause.

Study of cerebral cavernous malformation in Spain and Portugal

G. Izquierdo, J. Álvarez-cermeño, M. Bellido, 2007, Journal of Neurology.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Huntington's disease in Venezuela

Ira Shoulson, Nancy S. Wexler, J. Penney, 1986, Neurology.

The role of mitochondrial DNA in Huntington’s disease

Carol C. Irwin, J. Penney, A. Young, 2008, Journal of Molecular Neuroscience.

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

M. Ramos-Arroyo, A. Valiente, S. Moreno, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

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

D. Yap, W. Dobyns, D. Weaver, 2016, Human mutation.

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

J. Cordero, M. Ramos-Arroyo, L. Prieto, 1988, American journal of medical genetics.

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

K. Claeys, B. Rautenstrauss, V. Timmerman, 2007, Neuromuscular Disorders.

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

M. Moreno-Igoa, M. Ramos-Arroyo, B. Hernández-Charro, 2016, American journal of medical genetics. Part A.

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

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2019, Genes.

Huntington's disease in venezuela: 7 years of follow‐up on symptomatic and asymptomatic individuals

Ira Shoulson, Jose Alvir, J. Penney, 1990, Movement disorders : official journal of the Movement Disorder Society.

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

D. Weaver, M. Ramos-Arroyo, A. Valiente, 2000, American journal of medical genetics.

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

P. Bauer, I. Biunno, G. Landwehrmeyer, 2011, European Journal of Human Genetics.

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

M. Tejada, F. Martínez, C. Hernández-Chico, 2014, BioMed research international.

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

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

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

F. Sánchez-Valverde, M. Ramos-Arroyo, E. Aranburu, 2008, Tissue antigens.

Craniofacial pattern profile (CFPP) evaluation of facial dysmorphology in a familial syndrome with corneal anesthesia and multiple congenital anomalies.

M. E. Hodes, M. Ramos-Arroyo, S. S. Saksena, 1987, American journal of physical anthropology.

Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome?

M. E. Hodes, M. Ramos-Arroyo, M. Modes, 1987, American journal of medical genetics.

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

S. Seneca, L. de Meirleir, P. Briones, 2009, Clinical genetics.

Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma

X. Estivill, S. Bhattacharya, D. Siderovski, 2000, Journal of medical genetics.

Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

M. Bayés, S. Amselem, M. Baiget, 1995 .

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

M. Ramos-Arroyo, A. Valiente, C. de Miguel, 1994, American journal of medical genetics.

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

F. Santos-Simarro, J. Armstrong, M. Ramos-Arroyo, 2019, Molecular genetics & genomic medicine.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Maternal diabetes: The risk for specific birth defects

J. Cordero, M. Ramos-Arroyo, E. Rodríguez‐Pinilla, 1992, European Journal of Epidemiology.

The role of mitochondrial DNA in Huntington's disease

Carol C. Irwin, J. Penney, A. Young, 2008, Journal of Molecular Neuroscience.

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

M. Bayés, M. Baiget, D. Grinberg, 1998, Journal of medical genetics.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2 q 31-q 33 Monica Bayes

M. Baiget, D. Grinberg, S. Balcells, 2022 .

Clinical manifestations of intermediate allele carriers in Huntington disease

S. Martínez-Horta, E. Cubo, S. Calvo, 2016, Neurology.

P.495 Epidemiological population-based study of hereditary myopathies in a southern European region

I. Jericó, E. Ardanaz, M. Ramos-Arroyo, 2017, Neuromuscular Disorders.

Huntington's disease in Venezuela: Neurologic features and functional decline

A. Young, I. Shoulson, E. Bonilla, 2011, Neurology.

Birth defects in twins: study in a Spanish population.

M. Ramos-Arroyo, 1991, Acta geneticae medicae et gemellologiae.

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

E. Aller, J. Millán, J. Rosell, 2012, Molecular vision.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Sarah Edkins, Cisca Wijmenga, Lude Franke, 2011, Nature Genetics.

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

M. Ramos-Arroyo, A. Valiente, M. Artigas, 2006, Anales del sistema sanitario de Navarra.

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

D. Monckton, A. Galbete, M. Ciosi, 2022, Human molecular genetics.

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

L. Cardon, J. Penney, S. Cherny, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

S. Puig, V. Álvarez, J. Millán, 2016, Molecular Neurobiology.

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

D. Weaver, M. Ramos-Arroyo, E. Banks, 1991, Pediatrics.