Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

  • Authors : Godler DE; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/diagnosis ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics ; Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/diagnosis

  • Source: JAMA network open [JAMA Netw Open] 2022 Jan 04; Vol. 5 (1), pp. e2141911. Date of Electronic Publication: 2022 Jan 04.Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic

Record details

×
Editorial & Opinion

Following the Trail From Genotype to Phenotypes.

  • Authors : Lord C; Center for Autism and the Developing Brain, Weill Cornell Medical College, New York-Presbyterian Hospital, White Plains, New York.; Veenstra-VanderWeele J

Subjects: Chromosome Duplication* ; Cognition*; Autism Spectrum Disorder/Autism Spectrum Disorder/Autism Spectrum Disorder/*psychology

  • Source: JAMA psychiatry [JAMA Psychiatry] 2016 Jan; Vol. 73 (1), pp. 7-8.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print

Record details

×
Academic Journal

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

Subjects: Chromosome Duplication* ; Cognition*; Autism Spectrum Disorder/Autism Spectrum Disorder/Autism Spectrum Disorder/*psychology 16p11.2 Deletion Syndrome; Cerebellar Hypoplasia

  • Source: JAMA psychiatry [JAMA Psychiatry] 2016 Jan; Vol. 73 (1), pp. 20-30.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print

Record details

×
Academic Journal

Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst.

  • Authors : Furey CG; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.

Subjects: Family Health*; Arachnoid Cysts/Arachnoid Cysts/Arachnoid Cysts/*genetics ; Chromosome Duplication/Chromosome Duplication/Chromosome Duplication/*genetics Chromosome 22q11.2 Microduplication Syndrome

  • Source: JAMA neurology [JAMA Neurol] 2017 Dec 01; Vol. 74 (12), pp. 1503-1504.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print

Record details

×
Academic Journal

Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication: A Danish Nationwide, Register-Based Study.

  • Authors : Hoeffding LK; Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark2iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Lundbeck, Denmark.; Trabjerg BB

Subjects: Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Chromosome Duplication/Chromosome Duplication/Chromosome Duplication/*genetics ; DiGeorge Syndrome/DiGeorge Syndrome/DiGeorge Syndrome/*epidemiology Chromosome 22q11.2 Microduplication Syndrome

  • Source: JAMA psychiatry [JAMA Psychiatry] 2017 Mar 01; Vol. 74 (3), pp. 282-290.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print

Record details

×
Academic Journal

Cognitive Phenotypes and Genomic Copy Number Variations.

Subjects: GENOMES; HUMAN genetic variation; CHROMOSOME duplication

  • Source: JAMA: Journal of the American Medical Association; 5/26/2015, Vol. 313 Issue 20, p2029-2030, 2p

Record details

×
  • 1-7 of  7 results for ""CHROMOSOME duplication""