المؤلفون: Palacios-Verdú MG; Unit of Genomic Medicine, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain. Electronic address: gabpal@dexeus.com., Rodríguez-Melcón A; Obstetrics Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain., Rodríguez I; Epidemiological Unit, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain., Racca A; Reproductive Medicine Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain., Serra B; Obstetrics Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain., Albaiges G; Obstetrics Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain., Parriego M; Reproductive Medicine Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain., Prats P; Obstetrics Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.

المصدر: Reproductive biomedicine online [Reprod Biomed Online] 2024 Jun; Vol. 48 (6), pp. 103761. Date of Electronic Publication: 2023 Dec 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6491 (Electronic) Linking ISSN: 14726483 NLM ISO Abbreviation: Reprod Biomed Online Subsets: MEDLINE

مواضيع طبية MeSH: Preimplantation Diagnosis*/methods , Aneuploidy* , Genetic Testing*/methods , Fertilization in Vitro*, Humans ; Female ; Pregnancy ; Retrospective Studies ; Adult ; Prenatal Diagnosis/methods

المؤلفون: Codina-Sola M; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain.; Clinical and Molecular Genetics Area, Vall Hebrón Hospital Research Institute (VHIR), Hospital Vall d'Hebron, Barcelona, Spain., Costa-Roger M; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain., Pérez-García D; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain., Flores R; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain., Palacios-Verdú MG; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain.; Fundacio Dexeus Salut de la Dona, Barcelona, Spain., Cusco I; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain icusco@vhebron.net.; Clinical and Molecular Genetics Area, Vall Hebrón Hospital Research Institute (VHIR), Hospital Vall d'Hebron, Barcelona, Spain., Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain.; SA Clinical Genetics, Women's and Children's Hospital, South Australian Health and Medical Research Institute (SAHMRI) and University of Adelaide, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.

المصدر: Journal of medical genetics [J Med Genet] 2019 Dec; Vol. 56 (12), pp. 801-808. Date of Electronic Publication: 2019 Aug 14.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder/*genetics , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics , Ubiquitin-Protein Ligases/*genetics , Williams Syndrome/*genetics, Alleles ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Female ; Genetic Predisposition to Disease ; Genome, Human/genetics ; Hemizygote ; Humans ; Infant ; Male ; Phenotype ; Exome Sequencing ; Williams Syndrome/pathology

المؤلفون: Palacios-Verdú MG; Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Segura-Puimedon M; Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain Institut für Integrative und Experimentelle Genomik, Universitat zu Lübeck, Lübeck, Germany., Borralleras C; Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Flores R; Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Del Campo M; Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain Area de Medicina Molecular i Genètica, Hospital dew Vall d'Hebron, Barcelona, Spain., Campuzano V; Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Pérez-Jurado LA; Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

المصدر: Journal of medical genetics [J Med Genet] 2015 Apr; Vol. 52 (4), pp. 248-55. Date of Electronic Publication: 2015 Feb 06.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hypothyroidism/*metabolism , Metabolic Diseases/*metabolism , Williams Syndrome/*metabolism, Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Disease Models, Animal ; Female ; Humans ; Hypothyroidism/physiopathology ; Male ; Metabolic Diseases/physiopathology ; Mice ; Williams Syndrome/genetics ; Williams Syndrome/physiopathology ; Young Adult