Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres (Q35432422)

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

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8 December 2019

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

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8 December 2019

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Slavotinek A

1

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8 December 2019

Rosenberg M

2

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8 December 2019

Knight S

3

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8 December 2019

Gaunt L

4

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8 December 2019

Fergusson W

5

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8 December 2019

Killoran C

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8 December 2019

Clayton-Smith J

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8 December 2019

Kingston H

8

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8 December 2019

Campbell RH

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8 December 2019

Flint J

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8 December 2019

Donnai D

11

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8 December 2019

Biesecker L

12

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8 December 2019

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1 May 1999

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8 December 2019

Journal of Medical Genetics

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8 December 2019

36

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8 December 2019

5

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8 December 2019

405-411

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8 December 2019

describes a project that uses

microsatellite marker

1 reference

based on heuristic

inferred from title

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Characterization of short tandem repeats from thirty-one human telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Molecular characterization of patients with 18q23 deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

A metric map of humans: 23,500 loci in 850 bands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Mapping human telomere regions with YAC and P1 clones: chromosome-specific markers for 27 telomeres including 149 STSs and 24 polymorphisms for 14 proterminal regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

The genetic basis for mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Detection of a subtle rearrangement of chromosome 22 using molecular techniques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Constitutional 1p36 deletion in a child with neuroblastoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Interstitial deletions are not the main mechanism leading to 18q deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Dinucleotide repeat polymorphism at the human chromosome 11p telomere (D11S2071).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Mild mental retardation in Swedish school children. II. Etiologic and pathogenetic aspects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

A genetic linkage map 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=1734367

12 July 2018

Clinical consequences of deletion 1p35.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Aetiology of mild mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

The recurrence risks for mild idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Evaluation of the Child with Idiopathic Mental Retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Identification of a second pseudoautosomal region near the Xq and Yq telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Etiologic and pathogenetic study of mental retardation with multiple congenital anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734367

12 July 2018

Analysis of clinical variation seen in patients with 18q terminal deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and chromosomal studies of the 18q-syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Monosomy 7qter (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A hypervariable repeated sequence on human chromosome 1p36

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36

1 reference

https://pubmed.ncbi.nlm.nih.gov/10353788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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8 December 2019

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8 December 2019

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