(Q34146097)

31 July 2017

title

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). (English)

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31 July 2017

13

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31 July 2017

15

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31 July 2017

E Holinski-Feder

1

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31 July 2017

E Reyniers

2

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31 July 2017

S Uhrig

3

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31 July 2017

A Golla

4

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31 July 2017

J Wauters

5

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31 July 2017

P Kroisel

6

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31 July 2017

P Bossuyt

7

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31 July 2017

I Rost

8

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31 July 2017

K Jedele

9

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31 July 2017

H Zierler

10

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31 July 2017

S Schwab

11

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31 July 2017

D Wildenauer

12

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31 July 2017

P J Willems

14

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31 July 2017

R F Kooy

16

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31 July 2017

language of work or name

English

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publication date

1 January 2000

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

66

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31 July 2017

issue

1

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31 July 2017

page(s)

16-25

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Multiplex-FISH for pre- and postnatal diagnostic applications

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

De novo 16p deletion: ATR-16 syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Molecular-cytogenetic detection of a deletion of 1p36.3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Easy calculations of lod scores and genetic risks on small computers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Trigonocephaly and the Opitz C syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Familial trisomy 3q25----qter. Report of two cases.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Trisomy 16p in a liveborn infant and review of trisomy 16p.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

A case of trisomy 3q21?qter syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288322

Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions

28 October 2018

1 reference

12 December 2020

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

12 December 2020

De novo del(3)(q2800)

1 reference

12 December 2020

A new case of partial trisomy 3(q25----qter) in a newborn

1 reference

12 December 2020

Identifiers

DOI

10.1086/302703

1 reference

31 July 2017

1 reference

31 July 2017

1 reference