المؤلفون: Ferri-Rufete, D, Baleta-Riera, L, Casas-Alba, D, Balsells, S, Llorca-Cardeñosa, A, Barraso, M, Català, J, Casas, E, Díaz, J, Fresno, C, Palau, F, Martínez-Monseny, AF

المصدر: In AJO International 3 October 2024 1(3)

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المؤلفون: Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J

المصدر: CLINICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, IRAK1, MECP2 duplication, Methyl-CpG-binding protein 2 (MECP2), Xq28-duplication, genotype-phenotype correlation, hypotonia, intellectual disability, recurrent infections

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::468808b44adedf0beb8b8f6ed7d7da6c
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11958

المؤلفون: Brooks D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Burke E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.; Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA., Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Bick D; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Casas-Alba D; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Armstrong J; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Prat C; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain., Martínez-Monseny AF; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA., Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 279-291. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Case Reports

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/pathology , Hearing Loss, Sensorineural*/genetics , Hearing Loss, Sensorineural*/pathology , Craniosynostoses*/genetics , Heterozygote*, Humans ; Male ; Female ; Phenotype ; Child, Preschool ; Limb Deformities, Congenital/genetics ; Child ; Mutation ; Infant ; MAP Kinase Kinase Kinases/genetics

المؤلفون: Lourdes VH; Department of Pediatrics, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Mario SC; Department of Pediatrics, Hospital de Sant Boi, Parc Sanitari Sant Joan de Déu, Barcelona, Spain., Didac CA; Department of Genetic and Molecular Medicine/IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Mercè B; Department of Genetic and Molecular Medicine/IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Loreto M; Department of Genetic and Molecular Medicine/IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Leticia P; Department of Genetic and Molecular Medicine/IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Lucia FA; Departamen of Pediatrics, Hospital J P Garrahan, Buenos Aires, Argentine., Martínez-Monseny AF; Department of Genetic and Molecular Medicine/IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Mercedes S; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

المصدر: Frontiers in pediatrics [Front Pediatr] 2023 Jun 13; Vol. 11, pp. 1184529. Date of Electronic Publication: 2023 Jun 13 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Tenorio-Castaño JA; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Fernández-Jaén A; Hospital Universitario Quirónsalud Madrid, Universidad Europea de Madrid, Spain., Lay-Son G; Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de, Chile., Bueno-Lozano G; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain., Bayat A; Department of Pediatrics, Hvidovre Hospital, University of Copenhagen, Denmark., Faivre L; Ithaca, European Reference Network, Brussels, Belgium.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium., Ramos S; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Butler KM; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Morel C; University Health Network, Fred A. Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Hadjiyannakis S; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada., Lespinasse J; Service de Cytogenetique, Centre Hospitalier de Chambéry, Chambéry, France., Tran-Mau-Them F; UF6254 Innovation en Diagnostic Genomique des Maladies Rares Bat, Pôle de Biologie, CHU, Dijon, France., Santos-Simarro F; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.; Clinical Genetics section, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Pinson L; Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France., Martínez-Monseny AF; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., O'Callaghan Cord MDM; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain., Álvarez S; NIMGENETICS, Calle de Anabel Segura, Madrid, Spain., Stolerman ES; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Washington C; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Ramos FJ; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain.; Unit of Pediatric Endocrinology, Service of Paediatrics, University Hospital Lozano Blesa, Zaragoza, Spain., The S O G R I Consortium; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.

المصدر: Clinical genetics [Clin Genet] 2021 Oct; Vol. 100 (4), pp. 405-411. Date of Electronic Publication: 2021 Jul 16.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Phenotype*, Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics, Alleles ; Amino Acid Substitution ; Databases, Genetic ; Facies ; Genetic Variation ; Genotype ; Humans ; Syndrome ; Ubiquitin-Protein Ligases/genetics ; Exome Sequencing

المؤلفون: Pascual-Alonso A; Fundació Per la Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Martínez-Monseny AF; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Clinical Genetics, Molecular and Genetic Medicine Section, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain., Xiol C; Fundació Per la Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Armstrong J; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.; Clinical Genetics, Molecular and Genetic Medicine Section, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2021 Sep 04; Vol. 22 (17). Date of Electronic Publication: 2021 Sep 04.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Methyl-CpG-Binding Protein 2/*genetics , Methyl-CpG-Binding Protein 2/*metabolism, Brain Diseases/genetics ; Cognitive Dysfunction/genetics ; Genetic Association Studies/methods ; Genotype ; Humans ; Male ; Mental Retardation, X-Linked/genetics ; Mutation/genetics ; Phenotype ; Rett Syndrome/genetics

SCR Disease Name: Lubs X-linked mental retardation syndrome

المؤلفون: Martínez-Monseny AF; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Edo A; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Casas-Alba D; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Izquierdo-Serra M; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Bolasell M; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Conejo D; Pediatric Department, Complejo Asistencial de Burgos, 09006 Burgos, Spain., Martorell L; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain., Muchart J; Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Carrera L; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Ortez CI; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Nascimento A; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Oliva B; Structural Bioinformatics Lab, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Fernández-Fernández JM; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Serrano M; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2021 May 13; Vol. 22 (10). Date of Electronic Publication: 2021 May 13.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Ataxia/*pathology , Calcium Channels/*genetics, Adult ; Amino Acid Sequence ; Ataxia/congenital ; Ataxia/etiology ; Ataxia/metabolism ; Calcium Channels/chemistry ; Calcium Channels/metabolism ; Child ; Female ; Humans ; Male ; Neuroimaging ; Phenotype ; Protein Conformation ; Sequence Homology ; Structure-Activity Relationship ; Young Adult

المؤلفون: Casas-Alba D; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., López-Sala L; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Pérez-Ordóñez M; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Mari-Vico R; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Bolasell M; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Martínez-Monseny AF; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Muchart J; Department of Radiology, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Fernández-Fernández JM; Department de Ciències Experimentals i de la Salut, Laboratori de Fisiologia Molecular, Universitat Pompeu Fabra, Barcelona, Spain., Martorell L; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Serrano M; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 256-260. Date of Electronic Publication: 2020 Oct 24.

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Calcium Channels, T-Type/*genetics , Epilepsy/*genetics , Muscle Hypotonia/*genetics , Spinocerebellar Ataxias/*genetics, Age of Onset ; Alleles ; Child, Preschool ; Epilepsy/complications ; Epilepsy/diagnostic imaging ; Epilepsy/drug therapy ; Female ; Gain of Function Mutation/genetics ; Humans ; Infant ; Male ; Muscle Hypotonia/complications ; Muscle Hypotonia/diagnostic imaging ; Muscle Hypotonia/drug therapy ; Mutation ; Pedigree ; Phenotype ; Spinocerebellar Ataxias/complications ; Spinocerebellar Ataxias/diagnostic imaging ; Spinocerebellar Ataxias/drug therapy ; Zonisamide/administration & dosage

المؤلفون: Ruiz-Llobet A; Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Hospital Sant Joan de Déu de Barcelona (IRP-HSJD), Barcelona, Spain., Isola I; Department of Laboratory, Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Department of Pathology, CDB, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain., Gassiot S; Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Department of Laboratory, Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain., Català A; Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Hospital Sant Joan de Déu de Barcelona (IRP-HSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER ER), Instituto de Salud Carlos III, Madrid, Spain., Díaz-Ricart M; Department of Pathology, CDB, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain., Martínez-Monseny AF; Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), CIBERER U-703, Hospital Sant Joan de Déu, Barcelona, Spain., Serrano M; Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Department of Pediatric Neurology, U-703 CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain., Berrueco R; Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Hospital Sant Joan de Déu de Barcelona (IRP-HSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER ER), Instituto de Salud Carlos III, Madrid, Spain.

المصدر: Thrombosis and haemostasis [Thromb Haemost] 2020 Mar; Vol. 120 (3), pp. 457-465. Date of Electronic Publication: 2020 Mar 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 7608063 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2567-689X (Electronic) Linking ISSN: 03406245 NLM ISO Abbreviation: Thromb Haemost Subsets: MEDLINE

مواضيع طبية MeSH: Blood Platelets/*pathology , DiGeorge Syndrome/*blood , DiGeorge Syndrome/*genetics , Noonan Syndrome/*blood , Noonan Syndrome/*genetics , Platelet Glycoprotein GPIb-IX Complex/*genetics, Adenosine Diphosphate/pharmacology ; Adolescent ; Child ; Child, Preschool ; Epinephrine/pharmacology ; Female ; Hemorrhage/blood ; Humans ; Male ; Platelet Aggregation/drug effects ; Platelet Aggregation Inhibitors/pharmacology ; Platelet Function Tests ; Prospective Studies ; Ristocetin/pharmacology ; Surveys and Questionnaires ; Thrombocytopenia/genetics