(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

publication date

30 May 2008

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18 August 2017

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18 August 2017

volume

124

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18 August 2017

issue

1

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18 August 2017

page(s)

1-17

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

18 August 2017

cites work

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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

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12 December 2020

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

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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

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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

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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

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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.

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12 December 2020

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

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12 December 2020

Diagnostic genome profiling: unbiased whole genome or targeted analysis?

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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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Fryns syndrome survivors and neurologic outcome

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12 December 2020

10.1007/S00439-008-0513-9

Identifiers

DOI

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18 August 2017

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