(Q34653075)

3 August 2017

1 reference

title

Guidelines for molecular karyotyping in constitutional genetic diagnosis (English)

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3 August 2017

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Damien Sanlaville

11

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Karoly Szuhai

object named as

Karoly Szuhai

4

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Orsetta Zuffardi

object named as

Orsetta Zuffardi

15

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Frank Speleman

7

object named as

Frank Speleman

1 reference

3 August 2017

13

Helen Firth

1 reference

3 August 2017

8

Anita Rauch

1 reference

3 August 2017

1

Joris Robert Vermeesch

1 reference

3 August 2017

Heike Fiegler

2

1 reference

3 August 2017

Nicole de Leeuw

3

1 reference

3 August 2017

Jacqueline Schoumans

5

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3 August 2017

Roberto Ciccone

6

1 reference

3 August 2017

Jill Clayton-Smith

9

1 reference

3 August 2017

Conny Van Ravenswaaij

10

1 reference

3 August 2017

Philippos C Patsalis

12

1 reference

3 August 2017

Koen Devriendt

14

1 reference

3 August 2017

18 July 2007

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European Journal of Human Genetics

3 August 2017

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3 August 2017

15

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3 August 2017

11

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3 August 2017

1105-1114

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201896

3 August 2017

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The Chromosomes of Man

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A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

21 January 2018

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A case of human intersexuality having a possible XXY sex-determining mechanism

21 January 2018

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Specific banding patterns of human chromosomes

21 January 2018

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High Resolution of Human Chromosomes

21 January 2018

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The new cytogenetics: blurring the boundaries with molecular biology

21 January 2018

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MLPA and MAPH: new techniques for detection of gene deletions

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

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Genomic microarrays in human genetic disease and cancer

21 January 2018

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

1 reference

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

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

21 January 2018

1 reference

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

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

21 January 2018

1 reference

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Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

21 January 2018

1 reference

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Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

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

21 January 2018

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Reciprocal translocations: a trap for cytogenetists?

21 January 2018

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

21 January 2018

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Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

21 January 2018

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Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid

21 January 2018

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Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

21 January 2018

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Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Array painting using microdissected chromosomes to map chromosomal breakpoints

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

21 January 2018

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Accurate and reliable high-throughput detection of copy number variation in the human genome

21 January 2018

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

21 January 2018

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Resolving the resolution of array CGH.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Subtelomeric imbalances in phenotypically normal individuals.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

21 January 2018

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Minimum information about a microarray experiment (MIAME)-toward standards for microarray data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

Interstitial deletion of 6q without phenotypic effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

THE CHROMOSOME NUMBER OF MAN

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Fluorescent Labeling of Chromosomal DNA: Superiority of Quinacrine Mustard to Quinacrine

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Reply to Hochstenbach et al. 'Molecular karyotyping'

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Genomic microarrays in clinical diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Mental retardation: diagnosis, management, and family support.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Single-cell chromosomal imbalances detection by array CGH

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201896

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201896

1 reference

3 August 2017

1 reference