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Wyszukujesz frazę ""Ramos-Arroyo MA"" wg kryterium: Autor


Wyświetlanie 1-12 z 12
Tytuł:
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Autorzy:
Vicente E; Community Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNA (Navarre Institute for Health Research), Pamplona, Spain. .; Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona, Spain. .
Ruiz de Sabando A; Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona, Spain.; Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Pamplona, Spain.; Fundación Miguel Servet-Navarrabiomed, IdiSNA, Pamplona, Spain.
García F; Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Pamplona, Spain.
Gastón I; Department of Neurology, Complejo Hospitalario de Navarra, IdiSNA, Pamplona, Spain.
Ardanaz E; Community Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNA (Navarre Institute for Health Research), Pamplona, Spain.; CIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Ramos-Arroyo MA; Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona, Spain.; Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Pamplona, Spain.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 10; Vol. 16 (1), pp. 77. Date of Electronic Publication: 2021 Feb 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/diagnosis
Huntington Disease*/epidemiology
Huntington Disease*/genetics
Humans ; Incidence ; Prevalence ; Registries ; Spain/epidemiology
Czasopismo naukowe
Tytuł:
Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Autorzy:
de Sabando AR; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; Navarrabiomed, Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.
Lafuente EU; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; Navarrabiomed, Pamplona, Spain.
García-Amigot F; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.
Sánchez AA; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; Navarrabiomed, Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.
Garofalo LM; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.
Moreno S; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.
Ardanaz E; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.; Navarra Public Health Institute, Pamplona, Spain.; CIBER Epidemiology and Public Health CIBERESP, Madrid, Spain.
Ramos-Arroyo MA; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain. ma.ramos.arroyo@navarra.es.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain. ma.ramos.arroyo@navarra.es.
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Źródło:
BMC cancer [BMC Cancer] 2019 Dec 17; Vol. 19 (1), pp. 1227. Date of Electronic Publication: 2019 Dec 17.
Typ publikacji:
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł:
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Autorzy:
Ruiz de Sabando A; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; Navarrabiomed, Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.
Urrutia Lafuente E; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; Navarrabiomed, Pamplona, Spain.
García-Amigot F; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.
Alonso Sánchez A; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.; Navarrabiomed, Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.
Morales Garofalo L; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.
Moreno S; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain.
Ardanaz E; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.; Navarra Public Health Institute, Pamplona, Spain.; CIBER Epidemiology and Public Health CIBERESP, Madrid, Spain.
Ramos-Arroyo MA; Department of Medical Genetics, Complejo Hospitalario de Navarra (CHN), Pamplona, Spain. ma.ramos.arroyo@navarra.es.; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain. ma.ramos.arroyo@navarra.es.
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Źródło:
BMC cancer [BMC Cancer] 2019 Nov 27; Vol. 19 (1), pp. 1145. Date of Electronic Publication: 2019 Nov 27.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Autorzy:
Pérez-Grijalba V; Center for Biomedical Research (CIBIR), Fundación Rioja Salud, Logroño, Spain.
García-Oguiza A; Department of Pediatrics, San Pedro Hospital, Logroño, Spain.
López M; Center for Biomedical Research (CIBIR), Fundación Rioja Salud, Logroño, Spain.
Armstrong J; Hospital Sant Joan de Déu (HSJD), CIBERER. Esplugues de Llobregat, Barcelona, Spain.
García-Miñaur S; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Madrid, Madrid, Spain.
Mesa-Latorre JM; University Hospital Príncipe de Asturias, Madrid, Spain.
O'Callaghan M; Hospital Sant Joan de Déu (HSJD), CIBERER. Esplugues de Llobregat, Barcelona, Spain.
Pineda Marfa M; Hospital Sant Joan de Déu (HSJD), CIBERER. Esplugues de Llobregat, Barcelona, Spain.
Ramos-Arroyo MA; Servicio de Genética Médica, Hospital Virgen del Camino, Pamplona, Spain.
Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Madrid, Madrid, Spain.
Seidel V; Clinical Genetics, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Domínguez-Garrido E; Center for Biomedical Research (CIBIR), Fundación Rioja Salud, Logroño, Spain.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Nov; Vol. 7 (11), pp. e972. Date of Electronic Publication: 2019 Sep 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Mutation*
CREB-Binding Protein/*genetics
E1A-Associated p300 Protein/*genetics
Rubinstein-Taybi Syndrome/*genetics
Rubinstein-Taybi Syndrome/*pathology
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genotype ; Humans ; Infant ; Male ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł:
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
Autorzy:
Moreno-Igoa M; Medical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain. .
Hernández-Charro B; Medical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain. .
Bengoa-Alonso A; Medical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain. .
Pérez-Juana-del-Casal A; Medical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain. .
Romero-Ibarra C; Paediatric-cardiology Unit, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain. .
Nieva-Echebarria B; Cellular Genetics Unit, Policlínica Gipuzkoa, Paseo Miramón 174, Donostia, 20014, Gipuzkoa, Spain. .
Ramos-Arroyo MA; Medical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain. ma.ramos.arroyo@navarra.es.
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Źródło:
BMC medical genetics [BMC Med Genet] 2015 Aug 22; Vol. 16, pp. 68. Date of Electronic Publication: 2015 Aug 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Abnormalities, Multiple/*genetics
Intellectual Disability/*genetics
Nuclear Proteins/*genetics
Abnormalities, Multiple/pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; DNA Primers/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/pathology ; Karyotyping ; Reverse Transcriptase Polymerase Chain Reaction
SCR Disease Name:
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Tytuł:
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Autorzy:
Tejada MI; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, 48903 Bizkaia, Spain.
Glover G; Unidad de Genética Molecular, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, 30120 Murcia, Spain.
Martínez F; Unidad de Genética, Hospital Universitario La Fe, 46009 Valencia, Spain.
Guitart M; Laboratorio de Genética, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari UAB, Sabadell, 08208 Barcelona, Spain.
de Diego-Otero Y; Unidad de Gestión Clínica de Salud Mental, Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.
Fernández-Carvajal I; Instituto de Biología y Genética Molecular (IBGM), Universidad de Valladolid, CSIC, 47003 Valladolid, Spain.
Ramos FJ; Consulta de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 50009 Zaragoza, Spain.
Hernández-Chico C; Servicio de Genética, Hospital Ramón y Cajal, 28034 Madrid, Spain.
Pintado E; Servicio de Biología Molecular, Hospital Virgen Macarena y Universidad de Sevilla, 41009 Sevilla, Spain.
Rosell J; Servicio de Genética, Hospital Universitari Son Espases, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Palma de Mallorca, 07010 Illes Balears, Spain.
Calvo MT; Unidad de Genética Médica, Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain.
Ayuso C; Servicio de Genetica, IIS-Hospital Universitario Fundación Jiménez Díaz (IIS-FJD, UAM), CIBER de Enfermedades Raras (CIBERER-ISCIII), 28040 Madrid, Spain.
Ramos-Arroyo MA; Servicio de Genética, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain.
Maortua H; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, 48903 Bizkaia, Spain.
Milà M; Servicio de Bioquímica y Genética Molecular, Hospital Clinic, IDIBAPS, CIBER de Enfermedades Raras (CIBERER-ISCIII), 08036 Barcelona, Spain.
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Źródło:
BioMed research international [Biomed Res Int] 2014; Vol. 2014, pp. 195793. Date of Electronic Publication: 2014 May 28.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Alleles*
Gene Frequency*
Genetic Testing*
Registries*
Fragile X Syndrome/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Fragile X Syndrome/epidemiology ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Spain/epidemiology
Czasopismo naukowe
Tytuł:
Modifying effect of HLA haplotypes located trans to DQB1*02-DRB1*03 in celiac patients of Southern Europe.
Autorzy:
Hernández-Charro B; Department of Genetics, Hospital Virgen del Camino, Navarra, Spain.
Donat E
Miner I
Aranburu E
Sánchez-Valverde F
Ramos-Arroyo MA
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Źródło:
Tissue antigens [Tissue Antigens] 2008 Mar; Vol. 71 (3), pp. 213-8.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Celiac Disease/*genetics
Celiac Disease/*immunology
HLA Antigens/*genetics
HLA-DQ Antigens/*genetics
HLA-DR Antigens/*genetics
Case-Control Studies ; Female ; Gene Dosage ; Gene Frequency ; Genetic Complementation Test ; Genetic Predisposition to Disease ; HLA-DQ beta-Chains ; HLA-DRB1 Chains ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Male ; Risk Factors ; Spain
Czasopismo naukowe
    Wyświetlanie 1-12 z 12

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