Related references
Note: Only part of the references are listed.Confirmation of chromosomal microarray as a firsttier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype
Sarah Scollon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid
Katarzyna Derwinska et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2012)
Better prognosis for patients with del(7q) than for patients with monosomy 7 in myelodysplastic syndrome
Iris Cordoba et al.
CANCER (2012)
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
Sarah Vergult et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling
Siddram J. Patil et al.
INDIAN JOURNAL OF PEDIATRICS (2012)
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Copy number variations in neurodevelopmental disorders
Hannah M. Grayton et al.
PROGRESS IN NEUROBIOLOGY (2012)
Microdeletion and Microduplication Syndromes
Lisenka E. L. M. Vissers et al.
GENOMIC STRUCTURAL VARIANTS: METHODS AND PROTOCOLS (2012)
Crystallization of a paraspeckle protein PSPC1-NONO heterodimer
Daniel M. Passon et al.
ACTA CRYSTALLOGRAPHICA SECTION F-STRUCTURAL BIOLOGY COMMUNICATIONS (2011)
A De Novo 2.1-Mb Deletion of 13q12.11 in a Child With Developmental Delay and Minor Dysmorphic Features
Vazken M. Der Kaloustian et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Molecular Characterization of an Interstitial Deletion of 1p31.3 in a Patient With Obesity and Psychiatric Illness and a Review of the Literature
Marilena Petti et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome
George A. Tanteles et al.
CLINICAL DYSMORPHOLOGY (2011)
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
Erin B. Kaminsky et al.
GENETICS IN MEDICINE (2011)
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
Rachel D. Burnside et al.
HUMAN GENETICS (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Prevalence of intellectual disability: A meta-analysis of population-based studies
Pallab K. Maulik et al.
RESEARCH IN DEVELOPMENTAL DISABILITIES (2011)
Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability
Dean A. Regier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G. F. de Kovel et al.
BRAIN (2010)
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
Philip M. Boone et al.
HUMAN MUTATION (2010)
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
Lisenka E. L. M. Vissers et al.
JOURNAL OF MEDICAL GENETICS (2010)
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
C. Bonnet et al.
JOURNAL OF MEDICAL GENETICS (2010)
Hotspots of Large Rare Deletions in the Human Genome
W. Edward C. Bradley et al.
PLOS ONE (2010)
Characterising and Predicting Haploinsufficiency in the Human Genome
Ni Huang et al.
PLOS GENETICS (2010)
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
Andy Itsara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9
K. Derwinska et al.
CLINICAL GENETICS (2009)
Genomic Microarrays in Mental Retardation: A Practical Workflow for Diagnostic Applications
David A. Koolen et al.
HUMAN MUTATION (2009)
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss et al.
NATURE (2009)
Novel microdeletion syndromes detected by chromosome microarrays
Anne M. Slavotinek
HUMAN GENETICS (2008)
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al.
NATURE GENETICS (2008)
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females
Akinori Miyashita et al.
HUMAN MOLECULAR GENETICS (2007)
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
Blake C. Ballif et al.
NATURE GENETICS (2007)
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
Sau W. Cheung et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
Pawel Stankiewicz et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2007)
Analysis of transcriptional modulation of the presenilin 1 gene promoter by ZNF237, a candidate binding partner of the Ets transcription factor ERM
Martine Pastorcic et al.
BRAIN RESEARCH (2007)
Characterization of a recurrent 15q24 microdeletion syndrome
Andrew J. Sharp et al.
HUMAN MOLECULAR GENETICS (2007)
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
Lisa G. Shaffer et al.
GENETICS IN MEDICINE (2007)
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis
Lala Rodriguez-Revenga et al.
GENETICS IN MEDICINE (2007)
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Anita Rauch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
J. M. Friedman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen et al.
NATURE GENETICS (2006)
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Charles Shaw-Smith et al.
NATURE GENETICS (2006)
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Andrew J. Sharp et al.
NATURE GENETICS (2006)
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
B. Menten et al.
JOURNAL OF MEDICAL GENETICS (2006)
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
Richard Redon et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
J. B. Ravnan et al.
JOURNAL OF MEDICAL GENETICS (2006)
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
DA Koolen et al.
JOURNAL OF MEDICAL GENETICS (2004)
A novel 5q35.3 subtelomeric deletion syndrome
A Rauch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Practice parameter: Evaluation of the child with global developmental delay - Report of the quality standards subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
M Shevell et al.
NEUROLOGY (2003)
Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome
KS Shim et al.
NEUROSCIENCE LETTERS (2002)
A 4q21-q22 deletion in a girl with severe growth retardation
N Harada et al.
CLINICAL GENETICS (2002)