(Q43007237)

English

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

scientific article published on October 2007

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scholarly article

1 reference

Europe PubMed Central

12 November 2017

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. (English)

1 reference

Europe PubMed Central

12 November 2017

0 references

Michael R. Speicher

8

1 reference

Europe PubMed Central

12 November 2017

7

object named as

Stefan Mundlos

1 reference

Europe PubMed Central

12 November 2017

object named as

Eva Klopocki

6

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Dietmar Schlembach

2

object named as

Dietmar Schlembach

1 reference

Europe PubMed Central

12 November 2017

author name string

Sabine Uhrig

1

1 reference

Europe PubMed Central

12 November 2017

Julie Waldispuehl-Geigl

3

1 reference

Europe PubMed Central

12 November 2017

Werner Schaffer

4

1 reference

Europe PubMed Central

12 November 2017

Jochen Geigl

5

1 reference

Europe PubMed Central

12 November 2017

language of work or name

0 references

publication date

1 October 2007

1 reference

Europe PubMed Central

12 November 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

12 November 2017

81

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Europe PubMed Central

12 November 2017

4

1 reference

Europe PubMed Central

12 November 2017

866-868

1 reference

Europe PubMed Central

12 November 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Strong association of de novo copy number mutations with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Global variation in copy number 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=2227939

26 May 2018

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 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=2227939

26 May 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=2227939

26 May 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=2227939

26 May 2018

The new cytogenetics: blurring the boundaries with molecular biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Prenatal diagnosis of thrombocytopenia-absent radius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Thrombocytopenia with absent radius (TAR).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Percutaneous umbilical blood sampling: results from a multicenter collaborative registry. The Western Collaborative Perinatal Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

26 May 2018

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227939

16 August 2018

Thrombocytopenia and absent radius (TAR) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17847015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17847015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

12 November 2017

1 reference

Europe PubMed Central

12 November 2017

1 reference

Europe PubMed Central

12 November 2017

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