Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. (Q35194477)

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12 October 2019

title

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. (English)

1 reference

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Rubinstein-Taybi syndrome

12 October 2019

main subject

1 reference

4

1 reference

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12 October 2019

Herman Wijnen

6

1 reference

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12 October 2019

author name string

Breuning MH

1

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12 October 2019

Dauwerse HG

2

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12 October 2019

Fugazza G

3

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12 October 2019

Spruit L

5

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12 October 2019

Tommerup N

7

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12 October 2019

van der Hagen CB

8

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12 October 2019

Imaizumi K

9

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12 October 2019

Kuroki Y

10

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12 October 2019

van den Boogaard MJ

11

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12 October 2019

de Pater JM

12

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12 October 2019

Mariman EC

13

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12 October 2019

Hamel BC

14

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12 October 2019

Himmelbauer H

15

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12 October 2019

Frischauf AM

16

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12 October 2019

Stallings R

17

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12 October 2019

Beverstock GC

18

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12 October 2019

van Ommen GJ

19

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12 October 2019

Hennekam RC

20

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12 October 2019

language of work or name

English

0 references

publication date

1 February 1993

1 reference

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American Journal of Human Genetics

12 October 2019

published in

1 reference

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12 October 2019

volume

52

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12 October 2019

issue

2

1 reference

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12 October 2019

page(s)

249-254

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Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

12 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Arched, clubbed thumb in strong abduction-extension & other concomitant symptoms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Mapping the short arm of human chromosome 16.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Genetic linkage map of 46 DNA markers on human chromosome 16.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Direct nonradioactive in situ hybridization of somatic cell hybrid DNA to human lymphocyte chromosomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Rubinstein-Taybi syndrome in The Netherlands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

An expanded mouse-human hybrid cell panel for mapping human chromosome 16.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Saturating the region of the polycystic kidney disease gene with NotI linking clones

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Inversion 16 and translocation (16;16) in ANLL M4eo break in the same subregion of the short arm of chromosome 16.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Construction of a map of chromosome 16 by using radiation hybrids

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682202

Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?

27 September 2018

1 reference

12 December 2020

Regional localization of the autosomal dominant polycystic kidney disease locus

1 reference

12 December 2020

Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16p

1 reference

12 December 2020

Two distinct loci on the short arm of chromosome 16 are involved in myeloid leukemia

1 reference

12 December 2020

Chromosomal localisation of the Rubinstein-Taybi syndrome?

1 reference

12 December 2020

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)

1 reference

12 December 2020

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations

1 reference

12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

12 December 2020

Identifiers

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12 October 2019

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