المؤلفون: Sadhwani, A, Willen, JM, Miller, H, Barbieri‐Welge, R, Horowitz, LT, Noll, LM, Peters, S, Hundley, R, Bird, LM, Tan, WH

المصدر: Journal of Intellectual Disability Research. 64(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Clinical Research, Pediatric, Mental Health, Genetics, Neurosciences, Rare Diseases, Mental health, Age Factors, Angelman Syndrome, Birth Order, Child, Child, Preschool, Early Diagnosis, Female, Humans, Infant, Male, Siblings, Ubiquitin-Protein Ligases, child development, developmental disability, phenotype, sibship, UBE3A mutation, Medical and Health Sciences, Education, Psychology and Cognitive Sciences, Rehabilitation, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5dv2n0ms

المؤلفون: Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU, Gentile, Jennifer K, Tan, Wen-Hann, Horowitz, Lucia T, Bacino, Carlos A, Skinner, Steven A, Barbieri-Welge, Rene

المصدر: Journal of Developmental & Behavioral Pediatrics; 2010 Sep, Vol. 31 Issue 7, p592-601, 10p

المؤلفون: Gwaltney A; RTI International, Research Triangle Park, NC, USA., Potter SN; RTI International, Research Triangle Park, NC, USA., Peters SU; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Barbieri-Welge RL; Developmental Evaluation Clinic, Rady Children's Hospital-San Diego, San Diego, CA, USA., Horowitz LT; Greenwood Genetic Center, Greenwood, SC, USA., Noll LM; Texas Children's Hospital, Houston, TX, USA.; Baylor College of Medicine, Houston, TX, USA., Hundley RJ; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Bird LM; Division of Dysmorphology/Genetics, Rady Children's Hospital-San Diego, San Diego, CA, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Sadhwani A; Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02446, USA. anjali.sadhwani@childrens.harvard.edu., Wheeler A; RTI International, Research Triangle Park, NC, USA.

المصدر: Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Aug 15. Date of Electronic Publication: 2023 Aug 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

المؤلفون: Sadhwani A; Department of Psychiatry, Boston Children's Hospital, Boston, MA, 02115, USA. Anjali.sadhwani@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. Anjali.sadhwani@childrens.harvard.edu., Wheeler A; RTI International, Research Triangle Park, NC, USA., Gwaltney A; RTI International, Research Triangle Park, NC, USA., Peters SU; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Barbieri-Welge RL; Developmental Evaluation Clinic, Rady Children's Hospital - San Diego, San Diego, CA, USA., Horowitz LT; Greenwood Genetic Center, Greenwood, SC, USA., Noll LM; Psychology Service, Texas Children's Hospital, Houston, TX, USA.; Baylor College of Medicine, Houston, TX, USA., Hundley RJ; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Bird LM; Division of Dysmorphology/Genetics, Rady Children's Hospital - San Diego, San Diego, CA, USA.; Department of Pediatrics, University of California, San Diego, San Diego, CA, USA., Tan WH; Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.

المصدر: Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Feb; Vol. 53 (2), pp. 720-737. Date of Electronic Publication: 2021 Jan 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/diagnosis , Angelman Syndrome*/genetics , Autism Spectrum Disorder*, Infant ; Child ; Humans ; Developmental Disabilities/diagnosis ; Motor Skills ; Child Development

المؤلفون: Sadhwani A; Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Willen JM; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland., LaVallee N; PROMETRIKA, LLC, Cambridge, Massachusetts., Stepanians M; PROMETRIKA, LLC, Cambridge, Massachusetts., Miller H; Division of Genetics and Genomics, Department of Biostatistics, Boston Children's Hospital, Harvard T.H. Chan School of Public Health, Boston, Massachusetts., Peters SU; Division of Developmental Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee., Barbieri-Welge RL; Developmental Evaluation Clinic, Rady Children's Hospital San Diego, San Diego, California., Horowitz LT; Greenwood Genetic Center, Greenwood, South Carolina., Noll LM; Psychology Service, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas., Hundley RJ; Division of Developmental Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee., Bird LM; Department of Pediatrics, University of California, San Diego.; Genetics/Dysmorphology, Rady Children's Hospital, San Diego, California., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 983-992. Date of Electronic Publication: 2019 Apr 03.

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

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: Stereotyped Behavior*, Angelman Syndrome/*diagnosis , Angelman Syndrome/*psychology, Adolescent ; Adult ; Alleles ; Angelman Syndrome/genetics ; Child ; Child, Preschool ; Disease Susceptibility ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Parenting/psychology ; Quality of Life ; Severity of Illness Index ; Stress, Psychological ; Young Adult

المؤلفون: Tan WH; Division of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Bird LM; Genetics / Dysmorphology, Rady Children's Hospital San Diego; Department of Pediatrics, University of California, San Diego, California., Sadhwani A; Department of Psychiatry, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Barbieri-Welge RL; Developmental Services, Rady Children's Hospital San Diego, San Diego, California., Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina., Horowitz LT; Greenwood Genetic Center, Greenwood, South Carolina., Bacino CA; Genetics Service, Texas Children's Hospital; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Noll LM; Psychology Service, Texas Children's Hospital; Baylor College of Medicine, Houston, Texas., Fu C; Division of Pediatric Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee., Hundley RJ; Division of Developmental Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee., Wink LK; Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Erickson CA; Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Barnes GN; Division of Pediatric Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee., Slavotinek A; Department of Pediatrics, University of California, San Francisco, California., Jeremy R; Department of Pediatrics, University of California, San Francisco, California., Rotenberg A; Department of Neurology, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Kothare SV; Department of Neurology, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Olson HE; Department of Neurology, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Poduri A; Department of Neurology, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Nespeca MP; Neurology, Rady Children's Hospital San Diego; University of California, San Diego, California., Chu HC; Division of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Willen JM; Division of Genetics and Genomics, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts., Haas KF; Department of Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee., Weeber EJ; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida., Rufo PA; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital; Harvard Medical School, Boston, Massachusetts.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1099-1107. Date of Electronic Publication: 2017 Sep 25.

نوع المنشور: Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

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: Angelman Syndrome/*drug therapy , Levodopa/*therapeutic use, Angelman Syndrome/diagnosis ; Angelman Syndrome/physiopathology ; Angelman Syndrome/psychology ; Animals ; Biomarkers ; Calcium/metabolism ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/metabolism ; Disease Models, Animal ; Humans ; Levodopa/administration & dosage ; Long-Term Potentiation ; Mice ; Neuropsychological Tests ; Treatment Outcome

المؤلفون: Bird LM; NIH Rare Diseases Clinical Research Network-Angelman, Rett, & Prader-Willi Syndromes Consortium, USA. lbird@rchsd.org, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Dec; Vol. 155A (12), pp. 2956-63. Date of Electronic Publication: 2011 Oct 14.

نوع المنشور: Clinical Trial; 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: Dietary Supplements*, Angelman Syndrome/*drug therapy , DNA Methylation/*drug effects, Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Psychometrics ; Treatment Outcome

المؤلفون: Tan WH; Children's Hospital Boston, Harvard Medical School, Massachusetts, USA., Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Jan; Vol. 155A (1), pp. 81-90.

نوع المنشور: Journal Article; Multicenter Study; 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 Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Phenotype*, Angelman Syndrome/*genetics , Angelman Syndrome/*pathology , Chromosomes, Human, Pair 15/*genetics , Ubiquitin-Protein Ligases/*genetics, Child, Preschool ; Data Collection ; Electroencephalography ; Humans ; Infant ; Longitudinal Studies ; Mutation/genetics ; Statistics, Nonparametric

المؤلفون: Horowitz LT; SC Department of Developmental Disabilities, Coastal Autism Resource and Evaluation Center, 1064 Gardner Road, Suite 301, Charleston, SC 29407, USA.

المصدر: Journal of the South Carolina Medical Association (1975) [J S C Med Assoc] 2006 Oct; Vol. 102 (8), pp. 282-4.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: South Carolina Medical Assn Country of Publication: United States NLM ID: 7503045 Publication Model: Print Cited Medium: Print ISSN: 0038-3139 (Print) Linking ISSN: 00383139 NLM ISO Abbreviation: J S C Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Community Health Services* , Early Intervention, Educational* , Health Services Accessibility*, Autistic Disorder/*diagnosis, Adolescent ; Age Factors ; Autistic Disorder/therapy ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Physician's Role ; Physicians, Family ; Primary Health Care ; South Carolina ; Time Factors