Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 - Wikidata - awgldk - TriplyDB

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

http://www.wikidata.org/entity/Q24647937

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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH Understanding the impact of 1q21.1 copy number variant Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist Further characterization of microdeletion syndrome involving 2p15-p16.1 Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.Genome-wide linkage in Utah autism pedigrees Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.Effects of VRK2 (rs2312147) on white matter connectivity in patients with schizophrenia.Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly.Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.Copy-number variations associated with autism spectrum disorder.Autism spectrum disorders: the quest for genetic syndromes.Long non-coding RNAs in neurodevelopmental disorders.Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Long noncoding RNA and its contribution to autism spectrum disorders.2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.Localization of genetic loci controlling hydronephrosis in the Brown Norway rat and its association with hematuria.BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

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Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

http://www.wikidata.org/entity/Q24647937

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2007 nî lūn-bûn

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2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2007 թվականի ապրիլին հրատարակված գիտական հոդված

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2007年の論文

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Clinical and molecular cytogen ...... n syndrome involving 2p15-16.1

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Clinical and molecular cytogen ...... n syndrome involving 2p15-16.1

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Clinical and molecular cytogen ...... n syndrome involving 2p15-16.1

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Journal of Medical Genetics

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B McGillivray

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C Harvard

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E C R Mickelson

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J Hurlburt

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M E S Lewis

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X Liu

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Y Qiao

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

Molecular genetics of peroxisomal disorders.

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma.

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Evica Rajcan-Separovic

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