(Q33708603)

English

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 July 2017

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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

object named as

Kim L McBride

9

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Pawel Stankiewicz

22

object named as

Pawel Stankiewicz

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Julie Gastier-Foster

5

object named as

Julie Gastier-Foster

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Europe PubMed Central

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28 July 2017

author name string

Blake C Ballif

1

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Europe PubMed Central

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28 July 2017

Aaron Theisen

2

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Europe PubMed Central

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28 July 2017

Jill A Rosenfeld

3

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28 July 2017

Ryan N Traylor

4

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Europe PubMed Central

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28 July 2017

Devon Lamb Thrush

6

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Europe PubMed Central

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28 July 2017

Caroline Astbury

7

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Europe PubMed Central

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28 July 2017

Dennis Bartholomew

8

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28 July 2017

Robert E Pyatt

10

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28 July 2017

Kate Shane

11

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28 July 2017

Wendy E Smith

12

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28 July 2017

Valerie Banks

13

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28 July 2017

William B Gallentine

14

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28 July 2017

Pamela Brock

15

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28 July 2017

M Katharine Rudd

16

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28 July 2017

Margaret P Adam

17

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28 July 2017

Julia A Keene

18

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Europe PubMed Central

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28 July 2017

John A Phillips

19

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Europe PubMed Central

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28 July 2017

Jean P Pfotenhauer

20

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Europe PubMed Central

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28 July 2017

Gordon C Gowans

21

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Europe PubMed Central

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28 July 2017

Bassem A Bejjani

23

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28 July 2017

Lisa G Shaffer

24

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28 July 2017

language of work or name

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publication date

4 March 2010

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28 July 2017

American Journal of Human Genetics

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28 July 2017

86

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Europe PubMed Central

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28 July 2017

3

1 reference

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28 July 2017

454-461

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Conservation of linkage and evolution of developmental function within the Tbx2/3/4/5 subfamily of T-box genes: implications for the origin of vertebrate limbs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Segmental duplications flank the multiple sclerosis locus on chromosome 17q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Mutations in the human TBX4 gene cause small patella syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Role of TBX1 in human del22q11.2 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Recent segmental duplications in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Segmental duplications: organization and impact within the current human genome project assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Genetic and developmental bases of serial homology in vertebrate limb evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Expression of T-box genes Tbx2-Tbx5 during chick organogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Involvement of T-box genes Tbx2-Tbx5 in vertebrate limb specification and development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Molecular characterization of de novo secondary trisomy 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

21 June 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

Tbx Genes Specify Posterior Digit Identity through Shh and BMP Signaling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

Tbx5 and Tbx4 genes determine the wing/leg identity of limb buds.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

Tbx genes and limb identity in chick embryo development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833380

30 October 2018

Small patella syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20206336

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20206336

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/20206336

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ischio-pubic-patellar hypoplasia: is it a new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20206336

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/20206336

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.01.038

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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