(Q37177145)

18 August 2017

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title

Novel microdeletion syndromes detected by chromosome microarrays (English)

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18 August 2017

Anne M Slavotinek

1

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18 August 2017

30 May 2008

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18 August 2017

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18 August 2017

124

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18 August 2017

1-17

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18 August 2017

1

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https://scigraph.springernature.com/pub.10.1007/s00439-008-0513-9

18 August 2017

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cites work

A report of three patients with an interstitial deletion of chromosome 15q24.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

3q29 interstitial microduplication: a new syndrome in a three-generation family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

Severe microphthalmia, diaphragmatic hernia and Fallot??s tetralogy associated with a chromosome 1;15 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0513-9

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

21 January 2018

1 reference

12 December 2020

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

1 reference

12 December 2020

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

12 December 2020

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

12 December 2020

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

1 reference

12 December 2020

Medical applications of array CGH and the transformation of clinical cytogenetics

1 reference

12 December 2020

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs

1 reference

12 December 2020

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

1 reference

12 December 2020

A hot spot of genetic instability in autism.

1 reference

12 December 2020

Application of array-based comparative genomic hybridization to clinical diagnostics

1 reference

12 December 2020

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome

1 reference

12 December 2020

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

1 reference

12 December 2020

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

12 December 2020

Altered microtubule organization in small-calibre axons of mice lacking tau protein

1 reference

12 December 2020

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

1 reference

12 December 2020

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

12 December 2020

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

12 December 2020

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.

1 reference

12 December 2020

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

1 reference

12 December 2020

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

1 reference

12 December 2020

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.

1 reference

12 December 2020

Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation

1 reference

12 December 2020

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

1 reference

12 December 2020

Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics

1 reference

12 December 2020

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

12 December 2020

P50 sensory gating deficit in children with centrotemporal spikes and sharp waves in the EEG.

1 reference

12 December 2020

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

1 reference

12 December 2020

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

1 reference

12 December 2020

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies

1 reference

12 December 2020

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

1 reference

12 December 2020

Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice.

1 reference

12 December 2020

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

12 December 2020

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

1 reference

12 December 2020

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

12 December 2020

GABA(B) receptors function as a heteromeric assembly of the subunits GABA(B)R1 and GABA(B)R2.

1 reference

12 December 2020

A common inversion under selection in Europeans

1 reference

12 December 2020

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

1 reference

12 December 2020

Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand

1 reference

12 December 2020

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

1 reference

12 December 2020

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

1 reference

12 December 2020

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

1 reference

12 December 2020

Diagnostic genome profiling: unbiased whole genome or targeted analysis?

1 reference

12 December 2020

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

12 December 2020

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

12 December 2020

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

1 reference

12 December 2020

Recurrent 16p11.2 microdeletions in autism

1 reference

12 December 2020

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

1 reference

12 December 2020

Association between microdeletion and microduplication at 16p11.2 and autism

1 reference

12 December 2020

Fryns syndrome survivors and neurologic outcome

1 reference

12 December 2020

10.1007/S00439-008-0513-9

Identifiers

DOI

1 reference

18 August 2017

1 reference

PubMed ID

18512078