(Q51903797)

17 April 2018

title

Subtelomeric imbalances in phenotypically normal individuals. (English)

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17 April 2018

author

Björn Menten

2

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17 April 2018

Bernard Thienpont

5

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17 April 2018

Geert Mortier

9

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17 April 2018

Frank Kooy

10

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17 April 2018

Frank Speleman

14

object named as

Frank Speleman

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17 April 2018

Joris R Vermeesch

15

object named as

Joris Robert Vermeesch

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17 April 2018

Thomy de Ravel

3

object named as

Thomy de Ravel

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17 April 2018

author name string

Irina Balikova

1

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17 April 2018

Cédric Le Caignec

4

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17 April 2018

Montse Urbina

6

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17 April 2018

Martine Doco-Fenzy

7

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17 April 2018

Marjan de Rademaeker

8

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17 April 2018

Janneke van den Ende

11

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17 April 2018

Koen Devriendt

12

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17 April 2018

Jean-Pierre Fryns

13

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17 April 2018

publication date

1 October 2007

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17 April 2018

published in

Human Mutation

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17 April 2018

volume

28

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17 April 2018

issue

10

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17 April 2018

page(s)

958-967

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17 April 2018

The promise and pitfalls of telomere region-specific probes

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https://api.crossref.org/works/10.1002%2FHUMU.20537

The genetics of mental retardation

21 January 2018

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Subtelomeric rearrangements as neutral genomic polymorphisms.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20537

Measurement of locus copy number by hybridisation with amplifiable probes

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

The end of the beginning of chromosome ends

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Telomeres: a diagnosis at the end of the chromosomes

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Deletion of 8p: a report of a child with normal intelligence.

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Detection of large-scale variation in the human genome

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Del(3) (p25.3) without phenotypic effect

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Subtle chromosomal rearrangements in children with unexplained mental retardation

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

An optimized set of human telomere clones for studying telomere integrity and architecture.

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

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https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Single-cell chromosomal imbalances detection by array CGH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Sequence organization of the human chromosome 2q telomere

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

The prevalence of mental retardation: a critical review of recent literature.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Comparative genomic hybridization and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20537

7 January 2021

Identifiers

DOI

10.1002/HUMU.20537

1 reference

17 April 2018

1 reference

17 April 2018