المؤلفون: Claverie-Martín, Félix, García-Nieto, Víctor, Loris, César, Ariceta, Gema, Nadal, Inmaculada, Espinosa, Laura, Fernández-Maseda, Ángeles, Antón-Gamero, Montserrat, Ávila, África, Madrid, Álvaro, González-Acosta, Hilaria, Córdoba-Lanus, Elizabeth, Santos, Fernando, Gil-Calvo, Marta, Espino, Mar, García-Martínez, Elena, Sánchez, Ana, Muley, Rafael

المساهمون: RenalTube Group., Claverie-Martín,F, González-Acosta,H, Córdoba-Lanus,E Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. García-Nieto,V Nefrología Pediátrica, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. Loris,C Nefrología Pediátrica, Hospital Infantil Miguel Servet, Zaragoza, Spain. Ariceta,G Nefrología Pediátrica, Hospital de Cruces, Baracaldo, Spain. Nadal,I Nefrología Pediátrica, Hospital Virgen del Camino, Pamplona, Spain. Espinosa,L Nefrología Pediátrica, Hospital La Paz, Madrid, Spain. Fernández-Maseda,A Nefrología Pediátrica, Hospital Virgen de la Salud, Toledo, Spain. Antón-Gamero,M, García-Martinez,E Nefrología Pediátrica, Hospital Reina Sofía, Córdoba, Spain. Avila,A Nefrología Pediátrica, Complejo Hospitalario de Jaén, Spain. Madrid,A Nefrología Pediátrica, Hospital Vall d’Hebron, Barcelona, Spain. Santos,F Nefrología Pediátrica, Hospital Central de Asturias, Oviedo, Spain. Gil-Calvo,M Nefrología Pediátrica, Hospital Clínico, Santiago de Compostela, Spain. Espino,M Pediatría, Hospital Fundación Alcorcón, Madrid, Spain. Sanchez,A Nefrología Pediátrica, Hospital Universitario Virgen del Rocío, Sevilla, Spain. Muley,R Nefrología Pediátrica, Hospital 12 de Octubre, Madrid, Spain.

مصطلحات موضوعية: Kidneys, Magnesium, Mutation detection, Polymerase chain reaction, Renal transplantation, Substitution mutation, Riñones, Magnesio, Detección de mutaciones, Reacción en cadena de la polimerasa, Transplante renal, Mutación de sustitución, Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult, Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Claudins, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies, Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis, Medical Subject Headings::Check Tags::Female, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::Hypercalciuria, Medical Subject Headings::Diseases::Female Urogenital Diseases and Pregnancy Complications::Female Urogenital Diseases::Urologic Diseases::Kidney Diseases::Kidney Diseases

وصف الملف: application/pdf

Relation: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0053151; Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, et al. Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. PLoS ONE. 2013;8(1):e53151; http://hdl.handle.net/10668/1714; PMC3536807

الاتاحة: http://hdl.handle.net/10668/1714
https://doi.org/10.1371/journal.pone.0053151

المؤلفون: Félix, Claverie-Martín, Víctor, García-Nieto, Cesar, Loris, Gema, Ariceta, Inmaculada, Nadal, Laura, Espinosa, Ángeles, Fernández-Maseda, Montserrat, Antón-Gamero, Africa, Avila, Álvaro, Madrid, Hilaria, González-Acosta, Elizabeth, Córdoba-Lanus, Fernando, Santos, Marta, Gil-Calvo, Mar, Espino, Elena, García-Martinez, Ana, Sanchez, Rafael, Muley, Mireia, Aguirre Meñica

المساهمون: RenalTube Group., [Claverie-Martín,F, González-Acosta,H, Córdoba-Lanus,E]Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.[García-Nieto,V] Nefrología Pediátrica, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.[Loris,C] Nefrología Pediátrica, Hospital Infantil Miguel Servet, Zaragoza, Spain.[Ariceta,G] Nefrología Pediátrica, Hospital de Cruces, Baracaldo, Spain. [Nadal,I] Nefrología Pediátrica, Hospital Virgen del Camino, Pamplona, Spain.[Espinosa,L] Nefrología Pediátrica, Hospital La Paz, Madrid, Spain. [Fernández-Maseda,A] Nefrología Pediátrica, Hospital Virgen de la Salud, Toledo, Spain. [Antón-Gamero,M, García-Martinez,E] Nefrología Pediátrica, Hospital Reina Sofía, Córdoba, Spain.[Avila,A] Nefrología Pediátrica, Complejo Hospitalario de Jaén, Spain. [Madrid,A] Nefrología Pediátrica, Hospital Vall d’Hebron, Barcelona, Spain.[Santos,F] Nefrología Pediátrica, Hospital Central de Asturias, Oviedo, Spain. [Gil-Calvo,M] Nefrología Pediátrica, Hospital Clínico, Santiago de Compostela, Spain.[Espino,M] Pediatría, Hospital Fundación Alcorcón, Madrid, Spain. [Sanchez,A] Nefrología Pediátrica, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Muley,R] Nefrología Pediátrica, Hospital 12 de Octubre, Madrid, Spain.

المصدر: PLoS ONE
PLoS ONE, Vol 8, Iss 1, p e53151 (2013)

مصطلحات موضوعية: Male, Pathology, Anatomy and Physiology, Heredity, Substitution mutation, DNA Mutational Analysis, Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], medicine.disease_cause, Gastroenterology, Magnesio, Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Cohort Studies, Autosomal Recessive, Transplante renal, Reacción en cadena de la polimerasa, Chronic Kidney Disease, Medicine, Hypercalciuria, Magnesium, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [Medical Subject Headings], Child, Phenomena and Processes::Genetic Phenomena::Phenotype::Endophenotypes [Medical Subject Headings], Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Kidney, Mutation, Multidisciplinary, Named Groups::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Pediatric Nephrology, Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition::Deficiency Diseases::Magnesium Deficiency [Medical Subject Headings], Middle Aged, Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings], Mutation detection, Polymerase chain reaction, Nephrocalcinosis, Phenotypes, medicine.anatomical_structure, Phenotype, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology [Medical Subject Headings], Nephrology, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Child, Preschool, Female, Kidney Diseases, Research Article, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Biological::Models, Genetic [Medical Subject Headings], Adult, medicine.medical_specialty, Named Groups::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Adolescent, Science, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::Nephrocalcinosis [Medical Subject Headings], Genotypes, Check Tags::Male [Medical Subject Headings], Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::Hypercalciuria [Medical Subject Headings], Hypomagnesemia, Young Adult, Mutación de sustitución, Genetic Mutation, Internal medicine, Detección de mutaciones, Genetics, Humans, Genetic Predisposition to Disease, Biology, Clinical Genetics, Renal Physiology, Polymorphism, Genetic, Models, Genetic, business.industry, Point mutation, Riñones, Computational Biology, Kidneys, Renal transplantation, Human Genetics, Renal System, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic [Medical Subject Headings], medicine.disease, Diseases::Female Urogenital Diseases and Pregnancy Complications::Female Urogenital Diseases::Urologic Diseases::Kidney Diseases::Kidney Diseases, Cystic::Polycystic Kidney Diseases [Medical Subject Headings], Transplantation, Check Tags::Female [Medical Subject Headings], Haplotypes, Spain, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies [Medical Subject Headings], Claudins, Genetics of Disease, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Claudins [Medical Subject Headings], business, Magnesium Deficiency, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7d7895cca58a0afa669374b78496f0
https://pubmed.ncbi.nlm.nih.gov/23301036