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    دورية أكاديمية
    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

    المؤلفون: Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin

    المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

    مصطلحات موضوعية: 22q11.2 deletion, newborn screening, severe combined immunodeficiencye, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2324-9269

    URL الوصول: https://doaj.org/article/5fd90d6790484b2b99c860828ddbffb2

    View record at Wiley Find this article in full text from ProQuest Full Text Finder
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  2. 2
    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)

    المؤلفون: Neus Castells, Albert Plaja, Mónica Martínez-Gallo, Andrea Martín-Nalda, Anna M. Cueto-González, Pere Soler-Palacín, Ana Argudo-Ramírez, Eduardo F. Tizzano, Roger Colobran, Jacques G. Rivière, Jose Luis Marín-Soria

    المساهمون: [Martin-Nalda A, Riviere J, Soler-Palacin P] Unitat de Malalties Infeccioses Pediàtriques i Immunodeficiències, Servei de Pediatria, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Cueto-González AM, Plaja A, Castells N] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Argudo-Ramírez A, Marin-Soria JL] Newborn screening laboratory, Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain. [Martinez-Gallo M] Divisió d’Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Colobran R] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Divisió d’Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Tizzano EF] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia
    Molecular Genetics & Genomic Medicine
    Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

    مصطلحات موضوعية: 0301 basic medicine, Pediatrics, 22q11.2 deletion, Other subheadings::/methods [Other subheadings], Chromosomes, Human, Pair 22, Comorbidity, 030105 genetics & heredity, CHARGE syndrome, Otros calificadores::/métodos [Otros calificadores], Síndromes de deficiència immunitària en els infants - Catalunya, Gene duplication, Chromosome Duplication, Copy-number variation, Genetics (clinical), diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Comparative Genomic Hybridization, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Primary Immunodeficiency Diseases::Severe Combined Immunodeficiency [DISEASES], Cribatge genètic, Original Article, Female, medicine.medical_specialty, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Abnormalities, Multiple::22q11 Deletion Syndrome::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::DiGeorge Syndrome [DISEASES], Catalonia, lcsh:QH426-470, DNA Copy Number Variations, Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], 03 medical and health sciences, Neonatal Screening, Cataluña, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades del recién nacido::inmunodeficiencia combinada grave [ENFERMEDADES], Genetics, medicine, DiGeorge Syndrome, Humans, Abnormalities, Multiple, Multiplex ligation-dependent probe amplification, Síndrome de DiGeorge - Catalunya, Molecular Biology, Newborn screening, Severe combined immunodeficiency, business.industry, newborn screening, Infant, Newborn, severe combined immunodeficiencye, Original Articles, medicine.disease, enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías múltiples::síndrome de deleción 22q11::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::síndrome de DiGeorge [ENFERMEDADES], lcsh:Genetics, 030104 developmental biology, Spain, Severe Combined Immunodeficiency, Trisomy, business, Comparative genomic hybridization

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1617d413f71bc21eaa0846cc9be14801
    https://hdl.handle.net/11351/5218

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