المؤلفون: Bednar EM; The University of Texas MD Anderson Cancer Center, Houston, Texas., Rauh-Hain JA; The University of Texas MD Anderson Cancer Center, Houston, Texas., Garcia JJ; The University of Texas MD Anderson Cancer Center, Houston, Texas., de Aguinaga N; The University of Alabama at Birmingham, Birmingham, Alabama., Powell MA; The University of Alabama at Birmingham, Birmingham, Alabama., Peral SL; The University of Alabama at Birmingham, Birmingham, Alabama., Nitecki R; The University of Texas MD Anderson Cancer Center, Houston, Texas., Jorgensen K; The University of Texas MD Anderson Cancer Center, Houston, Texas., Rudy NL; The University of Alabama at Birmingham, Birmingham, Alabama., Lu KH; The University of Texas MD Anderson Cancer Center, Houston, Texas., Leath CA 3rd; The University of Alabama at Birmingham, Birmingham, Alabama., Scarinci IC; The University of Alabama at Birmingham, Birmingham, Alabama.

المصدر: Cancer prevention research (Philadelphia, Pa.) [Cancer Prev Res (Phila)] 2024 Jan 04; Vol. 17 (1), pp. 19-28.

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

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101479409 Publication Model: Print Cited Medium: Internet ISSN: 1940-6215 (Electronic) Linking ISSN: 19406215 NLM ISO Abbreviation: Cancer Prev Res (Phila) Subsets: MEDLINE

مواضيع طبية MeSH: Medically Underserved Area* , Neoplasms*/diagnosis , Neoplasms*/genetics, Humans ; Genetic Testing ; Communication ; Genetic Counseling ; Genetic Predisposition to Disease

المؤلفون: Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Bennington A; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK., Baker MJ; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK., Rijckmans E; Department of Pediatrics, UZ Brussel, Brussels, Belgium.; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium., Clemente GD; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK., Ansor NM; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Penang, Malaysia., Sito H; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK., Prasad P; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK., Anyane-Yeboa K; Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA., Badalato L; Department of Pediatrics, School of Medicine, Kingston General Hospital, Queen's University, Kingston, ON, Canada., Dimitrov B; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium., Fitzpatrick D; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Jansen AC; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium., Kelly MA; HudsonAlpha Clinical Services Lab, Huntsville, AL, USA., Krantz I; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Ross M; Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Sanz J; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Stouffs K; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium., Xu ZL; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Malliri A; Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK., Kazanietz MG; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Millard TH; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.

المصدر: Brain : a journal of neurology [Brain] 2022 Dec 19; Vol. 145 (12), pp. 4232-4245.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Megalencephaly*/genetics , Neurodevelopmental Disorders*/genetics , rac1 GTP-Binding Protein*, Animals ; Mice ; Neurons ; NIH 3T3 Cells ; Signal Transduction/genetics

المؤلفون: Schalk A; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Cousin MA; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Challman TD; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA., Wain KE; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA., Powis Z; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA., Minks K; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA., Trimouille A; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France., Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France., Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain., Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain., Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada., Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France., Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France., Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands., Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada., Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada., Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany., Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France., Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France., Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France., van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands., Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands., Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa., O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa., Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Skelton T; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; HudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Rudy NL; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA., Foss K; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Alembik Y; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Durand B; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Tran Mau-Them F; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France., Ranza E; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland., Blanc X; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland., Antonarakis SE; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland., McWalter K; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Torti E; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Millan F; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Dameron A; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Tokita M; GeneDx, GeneDx, Gaithersburg, Maryland, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Klee EW; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Piton A; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France piton@igbmc.fr., Gerard B; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.

المصدر: Journal of medical genetics [J Med Genet] 2022 Oct; Vol. 59 (10), pp. 965-975. Date of Electronic Publication: 2021 Dec 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

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: Intellectual Disability*/genetics , Intellectual Disability*/pathology , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Argonaute Proteins*/genetics, Humans ; Amino Acids/genetics ; Heterozygote ; RNA, Messenger

المؤلفون: Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Kaygusuz E; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.; Bilecik Şeyh Edebali University, Molecular Biology and Genetics, Gülümbe Campus, 11230 Bilecik, Turkey., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Nickelsen A; Institute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich Wilhelms, Universität Bonn, Bonn, Germany., Wagle P; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Budde BS; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Hochscherf J; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi, Pakistan., Höning S; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany., Nienberg C; Institute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany., Lindenblatt D; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany., Noegel AA; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Charitéplatz 1, 10117 Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Motameny S; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Fleischer N; FDNA Inc., Boston, MA, USA., Segal I; Hospital Center, Safed, Israel., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tinschert S; Zentrum Medizinische Genetik, Medizinische Universität, Innsbruck, Austria., Samra NN; Hospital Center, Safed, Israel.; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel., Savatt JM; Genomic Medicine Institute, Geisinger, Danville, PA, USA., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., De Luca C; Department of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy., Paola Fortugno; Department of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.; IRCCS, San Raffaele Roma, 00163 Roma, Italy., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich Wilhelms, Universität Bonn, Bonn, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Niefind K; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany., Jose J; Institute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany., Brancati F; Department of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.; IRCCS, San Raffaele Roma, 00163 Roma, Italy., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Hussain MS; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.

مؤلفون مشاركون: Italian Undiagnosed Diseases Network

المصدر: HGG advances [HGG Adv] 2022 Apr 18; Vol. 3 (3), pp. 100111. Date of Electronic Publication: 2022 Apr 18 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

المؤلفون: Gonzales PR; University of Kansas Medical Center, Kansas City, KS., Andersen EF; ARUP Laboratories, Salt Lake City, UT; The University of Utah, Salt Lake City, UT., Brown TR; The University of Utah, Salt Lake City, UT., Horner VL; University of Wisconsin-Madison, Madison, WI., Horwitz J; Labcorp, Santa Fe, NM., Rehder CW; Duke University Health System, Durham, NC., Rudy NL; The University of Alabama at Birmingham, Birmingham, AL., Robin NH; The University of Alabama at Birmingham, Birmingham, AL., Thorland EC; Mayo Clinic, Rochester, MN., On Behalf Of The Acmg Laboratory Quality Assurance Committee; American College of Medical Genetics and Genomics, Bethesda, MD. Electronic address: documents@acmg.net.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Feb; Vol. 24 (2), pp. 255-261. Date of Electronic Publication: 2021 Dec 03.

نوع المنشور: Practice Guideline; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetics, Medical* , Uniparental Disomy*, Consanguinity ; Genomics ; Homozygote ; Humans ; Polymorphism, Single Nucleotide/genetics ; United States

المؤلفون: Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Vincent M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Mayr J; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Brehm A; Octapharma Biopharmaceuticals GmbH, Berlin, Germany., Bupp C; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI., Warren K; Progenity, Inc, Louisville, KY., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, FL., Metcalfe KA; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester, United Kingdom., van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Jiang YH; Department of Genetics, Yale School of Medicine, New Haven, CT; Department of Neurobiology, Duke University School of Medicine, Durham, NC; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Mendelssohn BA; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA., Cope H; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Blackburn PR; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Goodenberger ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kennedy J; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Scurr I; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., de Saint Martin A; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Strasbourg, Strasbourg, France., Alembik Y; Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piton A; Unité de Génétique Moléculaire Strasbourg University Hospital, 1 place de l'Hôpital, Strasbourg Cedex, France., Bruel AL; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France; Génétique des Anomalies du Développement, Inserm UMR 1231, Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Déficience Intellectuelle de causes rares, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Thauvin-Robinet C; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon-Bourgogne, Dijon, France; INSERM UMR1231 GAD, Dijon, France., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Bourgeois D; Laboratoire National de Santé, Dudelange, Luxembourg., Dahan K; Laboratoire National de Santé, Dudelange, Luxembourg., Vignard V; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bonneau D; Service de Génétique médicale, CHU d'Angers, Angers, France., Colin E; Service de Génétique médicale, CHU d'Angers, Angers, France., Barth M; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Camby C; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Baujat G; Department of Medical Genetics, Necker Enfants Malades Hospital, AP-HP, Paris, France; INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France., Briceño I; Grupo Genética Humana, Facultad de Medicina, Universidad de La Sabana, Chía, Colombia., Gómez A; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia., Deb W; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 179-191. Date of Electronic Publication: 2021 Nov 30.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/diagnosis , Language Development Disorders*/genetics , Musculoskeletal Abnormalities*/genetics, Haploinsufficiency ; Humans ; Phenotype

المؤلفون: Le Coz C; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA., Nguyen DN; Division of Infectious Diseases, Department of Medicine, University of California San Francisco, San Francisco, CA.; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA.; Diabetes Center, University of California San Francisco, San Francisco, CA.; Innovative Genomics Institute, University of California Berkeley, Berkeley, CA.; Gladstone-University of California San Francisco Institute of Genomic Immunology, San Francisco, CA., Su C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Nolan BE; Division of Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Albrecht AV; Department of Chemistry and Center for Diagnostics and Therapeutics, Georgia State University, Atlanta, GA., Xhani S; Department of Chemistry and Center for Diagnostics and Therapeutics, Georgia State University, Atlanta, GA., Sun D; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA., Demaree B; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA.; University of California Berkeley-University of California San Francisco Graduate Program in Bioengineering, University of California, San Francisco, CA., Pillarisetti P; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA., Khanna C; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA., Wright F; Division of Infectious Diseases, Department of Medicine, University of California San Francisco, San Francisco, CA.; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA., Chen PA; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA.; Diabetes Center, University of California San Francisco, San Francisco, CA.; Innovative Genomics Institute, University of California Berkeley, Berkeley, CA.; Gladstone-University of California San Francisco Institute of Genomic Immunology, San Francisco, CA., Yoon S; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA., Stiegler AL; Departments of Pharmacology, Yale University, New Haven, CT., Maurer K; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA., Garifallou JP; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Rymaszewski A; Division of Allergy and Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI., Kroft SH; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI., Olson TS; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA., Seif AE; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA., Wertheim G; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Grant SFA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.; Division of Diabetes and Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Vo LT; Diabetes Center, University of California San Francisco, San Francisco, CA.; Innovative Genomics Institute, University of California Berkeley, Berkeley, CA., Puck JM; Division of Allergy, Immunology, and Bone Marrow Transplantation, Department of Pediatrics, University of California, San Francisco, CA.; University of California San Francsico Institute for Human Genetics and Smith Cardiovascular Research Institute, University of California, San Francisco, CA.; UCSF Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA., Sullivan KE; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Routes JM; Division of Allergy and Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI., Zakharova V; Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Shcherbina A; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Mukhina A; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Atkinson TP; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Boggon TJ; Departments of Pharmacology, Yale University, New Haven, CT.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA., Abate AR; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA.; University of California Berkeley-University of California San Francisco Graduate Program in Bioengineering, University of California, San Francisco, CA.; Chan Zuckerberg Biohub, San Francisco, CA., Hajjar J; William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX.; Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX., Nicholas SK; William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX.; Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX., Verbsky J; Division of Allergy and Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI., Chinn IK; William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX.; Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX., Gonzalez MV; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Wells AD; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Marson A; Division of Infectious Diseases, Department of Medicine, University of California San Francisco, San Francisco, CA.; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA.; Diabetes Center, University of California San Francisco, San Francisco, CA.; Innovative Genomics Institute, University of California Berkeley, Berkeley, CA.; Gladstone-University of California San Francisco Institute of Genomic Immunology, San Francisco, CA.; Chan Zuckerberg Biohub, San Francisco, CA.; Parker Institute for Cancer Immunotherapy, San Francisco, CA., Poon GMK; Department of Chemistry and Center for Diagnostics and Therapeutics, Georgia State University, Atlanta, GA., Romberg N; Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

المصدر: The Journal of experimental medicine [J Exp Med] 2021 Jul 05; Vol. 218 (7). Date of Electronic Publication: 2021 May 05.

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

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE

مواضيع طبية MeSH: Agammaglobulinemia/*genetics , Chromatin/*genetics , Proto-Oncogene Proteins/*genetics , Trans-Activators/*genetics, Adolescent ; Adult ; B-Lymphocytes/physiology ; Cell Differentiation/genetics ; Cell Line ; Child ; Child, Preschool ; Dendritic Cells/physiology ; Female ; Gene Expression Regulation, Developmental/genetics ; HEK293 Cells ; Hematopoiesis/genetics ; Hematopoietic Stem Cells/physiology ; Humans ; Infant ; Lymphopoiesis/genetics ; Male ; Mutation/genetics ; Precursor Cells, B-Lymphoid/physiology ; Stem Cells/physiology ; Young Adult

المؤلفون: Upadia J; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Gonzales PR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Atkinson TP; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama., Schroeder HW; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama., Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2791-2797. Date of Electronic Publication: 2018 Sep 14.

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

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: Phenotype*, B-Cell Activation Factor Receptor/*genetics , Chromosome Disorders/*diagnosis , Chromosome Disorders/*genetics , Transcription Factors/*genetics, Alleles ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Female ; Genetic Association Studies ; Humans ; Infant ; Mutation

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome