المؤلفون: Duckett KA; Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A., Poupore NS; Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A., Carroll WW; Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A., Pecha PP; Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A.

المصدر: The Laryngoscope [Laryngoscope] 2024 Jun; Vol. 134 (6), pp. 2551-2561. Date of Electronic Publication: 2023 Dec 05.

نوع المنشور: Journal Article; Systematic Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE

مواضيع طبية MeSH: 22q11 Deletion Syndrome*/genetics , 22q11 Deletion Syndrome*/diagnostic imaging , 22q11 Deletion Syndrome*/surgery , Preoperative Care*/methods , Velopharyngeal Insufficiency*/surgery , Velopharyngeal Insufficiency*/diagnostic imaging , Velopharyngeal Insufficiency*/genetics , Velopharyngeal Insufficiency*/etiology, Child ; Female ; Humans ; Male ; Carotid Artery, Internal/diagnostic imaging ; Carotid Artery, Internal/surgery ; Carotid Artery, Internal/abnormalities ; Magnetic Resonance Imaging/methods

المؤلفون: Lasprilla-Tovar J; HOMI Fundacion Hospital Pediatrico la Misericordia, Pediatric Endocrinologist, Colombia, South America, Zuluaga NA; Hospital San Vicente Fundación and Associate Professor, Universidad de Antioquia, Pediatric Endocrinologist, Colombia, South America, Forero C; Hospital San Vicente Fundación and Associate Professor, Universidad de Antioquia, Pediatric Endocrinologist, Colombia, South America, Correa-Jiménez O; Universidad Nacional de Colombia, Pediatric Pulmonology and Immunology Research Group, Colombia, South America, Sierra JM; Universidad de Antioquia, Department of Pediatrics, Colombia, South America

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Feb 27; Vol. 15 (1), pp. 16-24. Date of Electronic Publication: 2022 Aug 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Hypocalcemia*/etiology , Hypocalcemia*/diagnosis , Endocrine System Diseases* , 22q11 Deletion Syndrome*/genetics , 22q11 Deletion Syndrome*/complications , 22q11 Deletion Syndrome*/diagnosis , Hypoparathyroidism* , Dwarfism, Pituitary*, Humans ; Child ; Retrospective Studies ; Colombia ; Chromosome Deletion

المؤلفون: Leader G; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National, University of Ireland, Galway, Ireland. Electronic address: geraldine.leader@nuigalway.ie., Curtin A; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National, University of Ireland, Galway, Ireland., Shprintzen RJ; The Virtual Center for Velo-Cardio-Facial Syndrome, Inc, United States., Whelan S; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National, University of Ireland, Galway, Ireland., Coyne R; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National, University of Ireland, Galway, Ireland., Mannion A; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National, University of Ireland, Galway, Ireland.

المصدر: Research in developmental disabilities [Res Dev Disabil] 2023 May; Vol. 136, pp. 104491. Date of Electronic Publication: 2023 Mar 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pergamon Press Country of Publication: United States NLM ID: 8709782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3379 (Electronic) Linking ISSN: 08914222 NLM ISO Abbreviation: Res Dev Disabil Subsets: MEDLINE

مواضيع طبية MeSH: DiGeorge Syndrome*/complications , DiGeorge Syndrome*/epidemiology , DiGeorge Syndrome*/genetics , Mental Disorders*/epidemiology , Mental Disorders*/genetics , Sleep Wake Disorders*/epidemiology , Sleep Wake Disorders*/genetics , 22q11 Deletion Syndrome*, Humans ; Adult ; Mental Health ; Activities of Daily Living

المؤلفون: Shi P; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net., Hou Y, Chen D, Xia Y, Zhu X, Sun G, Li Q, She M, Kong X

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Mar 10; Vol. 40 (3), pp. 317-321.

نوع المنشور: Review; English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Heart Septal Defects, Ventricular*/genetics , 22q11 Deletion Syndrome*, Female ; Pregnancy ; Humans ; DNA Copy Number Variations ; Fetus

SCR Disease Name: Chromosome 4q- Syndrome

المؤلفون: de Oliveira Figueiredo EC; Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland., Bondiolotti BM; Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland., Laugeray A; Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland., Bezzi P; Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland.; Department of Pharmacology and Physiology, University of Rome Sapienza, 00185 Rome, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Apr 16; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 16.

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: 22q11 Deletion Syndrome*/genetics , 22q11 Deletion Syndrome*/metabolism , Astrocytes*/metabolism, Animals ; Humans ; Mice ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondrial Proteins/metabolism ; Neuronal Plasticity/genetics

المؤلفون: Finless A; Department of Psychology/Neuroscience, Dalhousie University, Halifax, Canada., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Canada., Xiong T; Department of Psychiatry, Dalhousie University, Halifax, Canada., Carbyn H; Department of Psychiatry, Dalhousie University, Halifax, Canada., Lingley-Pottie P; Department of Psychiatry, Dalhousie University, Halifax, Canada., Palmer LD; Dalgish Family 22q Clinic, Department of Psychiatry and Division of Cardiology Department of Medicine, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, Canada., Shugar A; Division of Clinical & Metabolic Genetics and the Department of Genetic Counselling, the Hospital for Sick Children, Toronto, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada., McDonald-McGinn DM; Division of Human Genetics, 22q and You Center, Clinical Genetics Center, and Section of Genetic Counselling, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.; Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy., McGrath PJ; Department of Psychiatry, Dalhousie University, Halifax, Canada.; IWK Health Centre, Halifax, Canada., Bassett AS; Dalgish Family 22q Clinic, Department of Psychiatry and Division of Cardiology Department of Medicine, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, Canada., Cytrynbaum C; Division of Clinical & Metabolic Genetics and the Department of Genetic Counselling, the Hospital for Sick Children, Toronto, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada., Orr M; Department of Psychiatry, Dalhousie University, Halifax, Canada., Swillen A; Center for Human Genetics, UZ Leuven, Leuven, Belgium.; Department of Human Genetics, KU Leuven, Leuven, Belgium., Meier S; Department of Psychiatry, Dalhousie University, Halifax, Canada.; IWK Health Centre, Halifax, Canada.

المصدر: European journal of psychotraumatology [Eur J Psychotraumatol] 2024; Vol. 15 (1), pp. 2353532. Date of Electronic Publication: 2024 May 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101559025 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2000-8066 (Electronic) Linking ISSN: 20008066 NLM ISO Abbreviation: Eur J Psychotraumatol Subsets: MEDLINE

مواضيع طبية MeSH: Mothers*/psychology, Humans ; Female ; Adult ; Child ; Male ; Surveys and Questionnaires ; Mental Health ; Stress Disorders, Post-Traumatic/psychology ; 22q11 Deletion Syndrome/psychology ; Adolescent ; Neurodevelopmental Disorders/psychology ; Middle Aged ; Caregivers/psychology

المؤلفون: Bortolin K; Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland; Medical Image Processing Laboratory, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Delavari F; Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland; Medical Image Processing Laboratory, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland. Electronic address: Farnaz.Delavari@unige.ch., Preti MG; Medical Image Processing Laboratory, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland; CIBM Center for Biomedical Imaging, Lausanne, Switzerland. Electronic address: maria.preti@epfl.ch., Sandini C; Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland. Electronic address: corrado.sandini@unige.ch., Mancini V; Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland. Electronic address: valentina.mancini@unige.ch., Mullier E; Autism Brain and Behavior Laboratory, Department of Psychiatry, University of Geneva, Geneva, Switzerland., Van De Ville D; Medical Image Processing Laboratory, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland; CIBM Center for Biomedical Imaging, Lausanne, Switzerland. Electronic address: dimitri.vandeville@epfl.ch., Eliez S; Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, Switzerland. Electronic address: stephan.eliez@unige.ch.

المصدر: NeuroImage. Clinical [Neuroimage Clin] 2022; Vol. 35, pp. 103075. Date of Electronic Publication: 2022 Jun 08.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101597070 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-1582 (Electronic) Linking ISSN: 22131582 NLM ISO Abbreviation: Neuroimage Clin Subsets: MEDLINE

مواضيع طبية MeSH: 22q11 Deletion Syndrome*/diagnostic imaging , 22q11 Deletion Syndrome*/pathology , DiGeorge Syndrome*/complications , Psychotic Disorders*/complications , Psychotic Disorders*/diagnostic imaging , Psychotic Disorders*/genetics , White Matter*/pathology, Adolescent ; Adult ; Brain ; Humans ; Magnetic Resonance Imaging/methods ; Young Adult

المؤلفون: Framme JL; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden. jenny.lingman-framme@gu.se.; Department of Pediatrics, Halland Hospital Halmstad, Halmstad, Region Halland, Sweden. jenny.lingman-framme@gu.se., Lundqvist C; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Lundell AC; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., van Schouwenburg PA; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Lemarquis AL; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Thörn K; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Lindgren S; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Gudmundsdottir J; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.; Children's Medical Center, National University Hospital of Iceland, Reykjavík, Iceland., Lundberg V; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Degerman S; Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden.; Department of Clinical Microbiology, Umeå University, Umeå, Sweden., Zetterström RH; Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Borte S; ImmunoDeficiencyCenter Leipzig (IDCL), Municipal Hospital St. Georg Leipzig, Leipzig, Germany., Hammarström L; Department of Biosciences and Nutrition, Neo, Karolinska Institute, Stockholm, Sweden., Telemo E; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Hultdin M; Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden., van der Burg M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Fasth A; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Oskarsdóttir S; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Ekwall O; Department of Pediatrics, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

المصدر: Journal of clinical immunology [J Clin Immunol] 2022 Apr; Vol. 42 (3), pp. 618-633. Date of Electronic Publication: 2022 Jan 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: 22q11 Deletion Syndrome* , Lymphopenia*/diagnosis , Severe Combined Immunodeficiency*/diagnosis, Adolescent ; DNA ; Follow-Up Studies ; Humans ; Infant, Newborn ; Neonatal Screening ; Receptors, Antigen, T-Cell/genetics

المؤلفون: Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Stremmelaar DE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van der Donk R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, Bilthoven, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Bert.deVries@radboudumc.nl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Sep; Vol. 29 (9), pp. 1418-1423. Date of Electronic Publication: 2021 Feb 18.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, 22q11 Deletion Syndrome/*pathology , Abnormalities, Multiple/*pathology , Face/*abnormalities , Intellectual Disability/*pathology, 22q11 Deletion Syndrome/epidemiology ; 22q11 Deletion Syndrome/genetics ; Abnormalities, Multiple/epidemiology ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Diagnosis, Differential ; Female ; Humans ; Infant ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Male ; Nuclear Proteins/genetics ; Sex Factors

SCR Disease Name: Chromosome 17q21.31 Deletion Syndrome

المؤلفون: Bagautdinova J; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland. joelle.vandermolen@unige.ch., Zöller D; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Medical Image Processing Laboratory, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland., Schaer M; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Padula MC; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Mancini V; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Schneider M; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Clinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, Geneva, Switzerland., Eliez S; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

المصدر: Molecular psychiatry [Mol Psychiatry] 2021 Dec; Vol. 26 (12), pp. 7671-7678. Date of Electronic Publication: 2021 Jul 12.

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

بيانات الدورية: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: 22q11 Deletion Syndrome* , DiGeorge Syndrome*/diagnostic imaging , DiGeorge Syndrome*/genetics , Psychotic Disorders*/complications , Psychotic Disorders*/genetics , Schizophrenia*/complications , Schizophrenia*/genetics, Adolescent ; Adult ; Cerebral Cortex/diagnostic imaging ; Child ; Child, Preschool ; Humans ; Magnetic Resonance Imaging ; Young Adult