(Q36943643)

English

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

scientific article published on September 2007

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

17 August 2017

author name string

Lisa G Shaffer

1

1 reference

Europe PubMed Central

17 August 2017

Aaron Theisen

2

1 reference

Europe PubMed Central

17 August 2017

Bassem A Bejjani

3

1 reference

Europe PubMed Central

17 August 2017

Blake C Ballif

4

1 reference

Europe PubMed Central

17 August 2017

Arthur S Aylsworth

5

1 reference

Europe PubMed Central

17 August 2017

Cynthia Lim

6

1 reference

Europe PubMed Central

17 August 2017

Marie McDonald

7

1 reference

Europe PubMed Central

17 August 2017

Jay W Ellison

8

1 reference

Europe PubMed Central

17 August 2017

Dana Kostiner

9

1 reference

Europe PubMed Central

17 August 2017

Sulagna Saitta

10

1 reference

Europe PubMed Central

17 August 2017

Tamim Shaikh

11

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Europe PubMed Central

17 August 2017

language of work or name

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publication date

1 September 2007

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Europe PubMed Central

17 August 2017

Genetics in Medicine

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Europe PubMed Central

17 August 2017

9

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Europe PubMed Central

17 August 2017

9

1 reference

Europe PubMed Central

17 August 2017

607-616

1 reference

Europe PubMed Central

17 August 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181484b49

0 references

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

1 reference

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21 January 2018

Unbalanced 13;18 translocation and Williams syndrome

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21 January 2018

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1

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21 January 2018

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

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21 January 2018

Chromosome deletion and multiple cartilaginous exostoses

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21 January 2018

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature

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21 January 2018

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

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21 January 2018

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

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21 January 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

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22q13 deletion syndrome

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Genome architecture, rearrangements and genomic disorders

1 reference

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21 January 2018

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181484B49

21 January 2018

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

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21 January 2018

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

1 reference

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21 January 2018

Fryns syndrome survivors and neurologic outcome

1 reference

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21 January 2018

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

1 reference

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21 January 2018

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

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21 January 2018

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

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181484B49

21 January 2018

Fryns syndrome: a review of the phenotype and diagnostic guidelines.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181484B49

21 January 2018

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

1 reference

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21 January 2018

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

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21 January 2018

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

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21 January 2018

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

1 reference

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21 January 2018

Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells

1 reference

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21 January 2018

Dose dependency of Disp1 and genetic interaction between Disp1 and other hedgehog signaling components in the mouse

1 reference

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21 January 2018

The hedgehog signaling network

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181484B49

21 January 2018

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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21 January 2018

Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane

1 reference

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21 January 2018

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

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21 January 2018

Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched

1 reference

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21 January 2018

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

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21 January 2018

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

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21 January 2018

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

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21 January 2018

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

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21 January 2018

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

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21 January 2018

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

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

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A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

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21 January 2018

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Identifiers

10.1097/GIM.0B013E3181484B49

1 reference

Europe PubMed Central

17 August 2017

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0 references

1 reference

Europe PubMed Central

17 August 2017

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