المؤلفون: Shen W; Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA shen.wei@mayo.edu.; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, ARUP Laboratories, Salt Lake City, Utah, USA., Flores-Daboub J; Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Viskochil D; Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Dugan SL; Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Best HD; Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, ARUP Laboratories, Salt Lake City, Utah, USA.; Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Mao R; Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, ARUP Laboratories, Salt Lake City, Utah, USA.

المصدر: Journal of medical genetics [J Med Genet] 2020 Nov; Vol. 57 (11), pp. 794-796. Date of Electronic Publication: 2020 Jan 28.

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: Mosaicism*, Class I Phosphatidylinositol 3-Kinases/*genetics , GTP-Binding Protein alpha Subunits/*genetics , MAP Kinase Kinase 1/*genetics , Proto-Oncogene Proteins p21(ras)/*genetics, Cell-Free Nucleic Acids/blood ; Cell-Free Nucleic Acids/genetics ; Child ; Child, Preschool ; Class I Phosphatidylinositol 3-Kinases/blood ; Female ; GTP-Binding Protein alpha Subunits/blood ; Genetic Predisposition to Disease ; Genetic Variation/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; MAP Kinase Kinase 1/blood ; Male ; Mutation/genetics ; Proto-Oncogene Proteins p21(ras)/blood

المؤلفون: Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S

مؤلفون مشاركون: Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 137. Date of Electronic Publication: 2019 Dec 24.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Herriges JC; 1Department of Pathology, University of Utah, Salt Lake City, UT USA.; 2ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108 USA., Dugan SL; 3Department of Pediatric Medical Genetics, University of Utah, Salt Lake City, USA., Lamb AN; 1Department of Pathology, University of Utah, Salt Lake City, UT USA.; 2ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108 USA.

المصدر: Molecular cytogenetics [Mol Cytogenet] 2019 May 17; Vol. 12, pp. 20. Date of Electronic Publication: 2019 May 17 (Print Publication: 2019).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: eCollection Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

المؤلفون: Carapito R; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address: carapito@unistra.fr., Ivanova EL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France., Morlon A; BIOMICA SAS, 4 rue Boussingault, 67000 Strasbourg, France., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Molitor A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Erdmann E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France., Kieffer B; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France., Pichot A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Naegely L; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Kolmer A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Paul N; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Hanauer A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Tran Mau-Them F; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Jean-Marçais N; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Tvrdik T; ARUP Laboratories, Salt Lake City, UT 84108, USA., Muir AM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Dimartino C; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France., Chopra M; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France., Dutreux F; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Garde A; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Thauvin-Robinet C; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Phillips M; Cook Children's Medical Center, Fort Worth, TX 76102, USA., Crawford HP; Cook Children's Medical Center, Fort Worth, TX 76102, USA., Kukolich MK; Cook Children's Medical Center, Fort Worth, TX 76102, USA., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Kharbanda M; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Smigiel R; Department of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland., Gold N; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hung CY; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Viskochil DH; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Dugan SL; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT 84108, USA; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Joly-Helas G; Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76821 Rouen, France., Guerrot AM; Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76821 Rouen, France., Schluth-Bolard C; Department of Genetics, Hospices Civils de Lyon, GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677 Bron, France., Rio M; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA., McWalter K; GeneDx Inc., Gaithersburg, MD 20877, USA., Schnur RE; GeneDx Inc., Gaithersburg, MD 20877, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Mensah-Bonsu N; Texas Children's Hospital, Houston, TX 77030, USA., Céraline J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France; Service d'Onco-Hématologie, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France., Sun Z; Comprehensive Cancer Center and Beckman Research Institute, City of Hope, Duarte, CA 91010, USA., Ploski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA., Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France., Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 44093 Nantes, France., Bahram S; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address: siamak@unistra.fr.

مؤلفون مشاركون: Deciphering Developmental Disorders Study; The Wellcome Sanger Institute, Hinxton CB10 1SA, UK., University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Feb 07; Vol. 104 (2), pp. 319-330. Date of Electronic Publication: 2019 Jan 10.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Transcription Factors/*genetics, Alleles ; Animals ; Child ; Child, Preschool ; Developmental Disabilities/pathology ; Female ; Humans ; Infant ; Intellectual Disability/pathology ; Male ; Mice ; Syndrome ; Transcription Factors/chemistry ; Transcription Factors/metabolism

المؤلفون: Shen W; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA. Electronic address: wei.shen@path.utah.edu., Krautscheid P; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Rutz AM; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Bayrak-Toydemir P; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA., Dugan SL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

المصدر: European journal of medical genetics [Eur J Med Genet] 2019 Jan; Vol. 62 (1), pp. 55-60. Date of Electronic Publication: 2018 May 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Loss of Function Mutation* , Phenotype*, Abnormalities, Multiple/*genetics , DNA-Binding Proteins/*genetics , Developmental Disabilities/*genetics , Transcription Factors/*genetics, Abnormalities, Multiple/pathology ; Child ; Developmental Disabilities/pathology ; Histone-Lysine N-Methyltransferase ; Humans ; Male ; Syndrome

المؤلفون: Dugan SL; Department of Pediatrics, University of Utah, Salt Lake City, Utah., Panza E; Department of Human Genetics, University of Utah, Salt Lake City, Utah.; Department of Medical and Surgical Sciences, University of Bologna, Italy., Openshaw A; ARUP Laboratories, Salt Lake City, Utah., Botto LD; Department of Pediatrics, University of Utah, Salt Lake City, Utah., Camacho JA; Department of Pediatrics, Miller Children's and Women's Hospital, Long Beach, California., Toydemir RM; Department of Pediatrics, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Salt Lake City, Utah.; Department of Pathology, University of Utah, Salt Lake City, Utah.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2901-2906. Date of Electronic Publication: 2018 Oct 22.

نوع المنشور: Case Reports; Journal Article; 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: Chromosome Deletion* , Chromosomes, Human, Pair 9*, Chromosome Disorders/*diagnosis , Chromosome Disorders/*genetics, Adolescent ; Alleles ; Comparative Genomic Hybridization ; Facies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Syndrome

المؤلفون: Dugan SL; From the Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT., Botto LD; From the Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT., Hedlund GL; Department of Radiology, University of Utah School of Medicine, Salt Lake City, UT; Department of Medical Imaging, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, UT., Bale JF Jr; Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT. Electronic address: james.bale@hsc.utah.edu.

المصدر: Seminars in pediatric neurology [Semin Pediatr Neurol] 2018 Jul; Vol. 26, pp. 135-139. Date of Electronic Publication: 2017 Apr 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 9441351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-0776 (Electronic) Linking ISSN: 10719091 NLM ISO Abbreviation: Semin Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Diseases of the Nervous System/*diagnosis , Brain Diseases/*diagnosis , Calcinosis/*diagnosis , Ectodermal Dysplasia/*diagnosis , Limb Deformities, Congenital/*diagnosis , Nervous System Malformations/*diagnosis , Scalp Dermatoses/*congenital, Autoimmune Diseases of the Nervous System/genetics ; Brain/diagnostic imaging ; Brain Diseases/genetics ; Calcinosis/genetics ; Child ; Diagnosis, Differential ; Ectodermal Dysplasia/genetics ; Female ; Humans ; Limb Deformities, Congenital/genetics ; Nervous System Malformations/genetics ; Scalp Dermatoses/diagnosis ; Scalp Dermatoses/genetics

SCR Disease Name: Adams Oliver syndrome; Aicardi-Goutieres syndrome

المؤلفون: Bohm LA; University of Minnesota, Minneapolis, Minnesota.; ENT and Facial Plastic Surgery, Children's Minnesota, Children's Specialty Center, Minneapolis, Minnesota.; Division of Pediatric Otolaryngology, University of Michigan, Ann Arbor, Michigan., Zhou TC; University of Minnesota, Minneapolis, Minnesota., Mingo TJ; University of Minnesota, Minneapolis, Minnesota., Dugan SL; Medical Genetics, Children's Minnesota, Minneapolis, Minnesota.; Division of Pediatric Genetics, University of Utah, Salt Lake City, Utah., Patterson RJ; Pediatric Radiology, Children's Minnesota, Minneapolis, Minnesota., Sidman JD; University of Minnesota, Minneapolis, Minnesota.; ENT and Facial Plastic Surgery, Children's Minnesota, Children's Specialty Center, Minneapolis, Minnesota., Roby BB; University of Minnesota, Minneapolis, Minnesota.; ENT and Facial Plastic Surgery, Children's Minnesota, Children's Specialty Center, Minneapolis, Minnesota.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Aug; Vol. 173 (8), pp. 2158-2165. Date of Electronic Publication: 2017 Jun 03.

نوع المنشور: Journal Article

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: Abnormalities, Multiple/*physiopathology , Cerebellum/*abnormalities , DiGeorge Syndrome/*physiopathology , Malformations of Cortical Development/*physiopathology , Nervous System Malformations/*physiopathology, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Brain/diagnostic imaging ; Brain/physiopathology ; Cerebellum/diagnostic imaging ; Cerebellum/physiopathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; DiGeorge Syndrome/diagnostic imaging ; DiGeorge Syndrome/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development/diagnostic imaging ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/genetics

SCR Disease Name: Cerebellar Hypoplasia; Chromosome 22q11.2 Deletion Syndrome, Distal

المؤلفون: Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA., Hedrich UB; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Shinde DN; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA., Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Teichmann AC; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Chamberlin AC; Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA., Huether R; Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA., Lu HM; Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA., Alcaraz WA; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA., Jungbluth C; Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN., Dugan SL; Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.; Division of Medical Genetics, University of Utah, Salt Lake City, UT., Vainionpää L; Department of Pediatrics and Adolescence, Oulu University Hospital, PEDEGO Research Unit, University of Oulu, Oulu, Finland., Karle KN; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany., Synofzik M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Schöls L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Lehesjoki AE; Folkhälsan Institute of Genetics, Helsinki, Finland; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany. johannes.lemke@medizin.uni-leipzig.de.

المصدر: Annals of neurology [Ann Neurol] 2016 Oct; Vol. 80 (4). Date of Electronic Publication: 2016 Sep 09.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia/*genetics , Intellectual Disability/*genetics , Kv1.2 Potassium Channel/*genetics , Spastic Paraplegia, Hereditary/*genetics, Adult ; Animals ; Ataxia/physiopathology ; Child ; Exome ; Female ; Humans ; Intellectual Disability/physiopathology ; Male ; Middle Aged ; Mutation ; Oocytes/metabolism ; Pedigree ; Spastic Paraplegia, Hereditary/physiopathology ; Xenopus laevis ; Young Adult

المؤلفون: Morris CA; Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada., Mervis CB; Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky., Paciorkowski AP; Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, Nevada., Abdul-Rahman O; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi., Dugan SL; Division of Medical Genetics, University of Utah, Salt Lake City, Utah., Rope AF; Department of Medical Genetics, Kaiser Permanente, Portland, Oregon., Bader P; Northeast Indiana Genetics, Fort Wayne, Indiana., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi., Velleman SL; Department of Communication Sciences and Disorders, University of Vermont, Burlington, Vermont., Klein-Tasman BP; Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, West Virginia., Osborne LR; Departments of Medicine and Molecular Genetics and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Dec; Vol. 167A (12), pp. 2916-35. Date of Electronic Publication: 2015 Sep 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: Williams Syndrome/*etiology, Adolescent ; Child ; Child, Preschool ; Chromosomes, Human, Pair 7 ; Developmental Disabilities/etiology ; Developmental Disabilities/genetics ; Face/abnormalities ; Female ; Humans ; Infant ; Male ; Megalencephaly ; Pregnancy ; Pregnancy Complications/genetics ; Williams Syndrome/genetics ; Young Adult

SCR Disease Name: Williams-Beuren Region Duplication Syndrome