(Q52052243)

20 April 2018

title

De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. (English)

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20 April 2018

author name string

Ying Yue

1

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20 April 2018

Baerbel Grossmann

2

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20 April 2018

Susan E Holder

3

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20 April 2018

Thomas Haaf

4

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20 April 2018

publication date

15 April 2005

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20 April 2018

published in

Human Genetics

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20 April 2018

volume

117

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20 April 2018

page(s)

1-8

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20 April 2018

issue

1

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20 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-005-1273-4

exact match

0 references

cites work

Molecular cloning of human thiamin pyrophosphokinase

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Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1273-4

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

21 January 2018

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12 December 2020

The tumor suppressor PTEN negatively regulates insulin signaling in 3T3-L1 adipocytes

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12 December 2020

Pten is essential for embryonic development and tumour suppression

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A dominant-negative pleiotrophin mutant introduced by homologous recombination leads to germ-cell apoptosis in male mice

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High incidence of breast and endometrial neoplasia resembling human Cowden syndrome in pten+/- mice

1 reference

12 December 2020

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

1 reference

12 December 2020

Genome architecture, rearrangements and genomic disorders

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12 December 2020

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

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Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

1 reference

12 December 2020

Tumor suppressor PTEN inhibits integrin- and growth factor-mediated mitogen-activated protein (MAP) kinase signaling pathways

1 reference

12 December 2020

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

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12 December 2020

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

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12 December 2020

PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model

1 reference

12 December 2020

PTEN: from pathology to biology

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12 December 2020

Pten signaling in gliomas

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12 December 2020

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

1 reference

12 December 2020

Application of the Molecular Analysis of the T-Cell Receptor Repertoire in the Study of Immune-Mediated Hematologic Diseases

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12 December 2020

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

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Mutations in SOX2 cause anophthalmia

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

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Ral-GTPase influences the regulation of the readily releasable pool of synaptic vesicles.

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12 December 2020

Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements

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12 December 2020

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

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12 December 2020

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

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12 December 2020

The exocyst complex is required for targeting of Glut4 to the plasma membrane by insulin

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12 December 2020

Cloning and expression of a developmentally regulated protein that induces mitogenic and neurite outgrowth activity

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12 December 2020

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation

1 reference

12 December 2020

10.1007/S00439-005-1273-4

Identifiers

DOI

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20 April 2018

PubMed ID

15834588

1 reference

20 April 2018