(Q37135729)

English

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

scientific article published on 11 June 2008

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scholarly article

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8 January 2020

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant (English)

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8 January 2020

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Samantha J.L. Knight

15

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8 January 2020

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F D Hannes

1

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8 January 2020

A J Sharp

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8 January 2020

H C Mefford

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8 January 2020

T de Ravel

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8 January 2020

C A Ruivenkamp

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8 January 2020

M H Breuning

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8 January 2020

J-P Fryns

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8 January 2020

K Devriendt

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8 January 2020

G Van Buggenhout

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8 January 2020

A Vogels

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8 January 2020

H Stewart

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8 January 2020

R C Hennekam

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8 January 2020

G M Cooper

13

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8 January 2020

R Regan

14

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8 January 2020

E E Eichler

16

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8 January 2020

J R Vermeesch

17

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8 January 2020

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publication date

11 June 2008

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8 January 2020

Journal of Medical Genetics

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8 January 2020

46

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8 January 2020

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8 January 2020

223-232

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8 January 2020

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Recurrent duplication-driven transposition of DNA during hominoid evolution

1 reference

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14 September 2017

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

1 reference

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14 September 2017

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

1 reference

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14 September 2017

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

1 reference

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14 September 2017

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

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14 September 2017

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

1 reference

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14 September 2017

Segmental duplications and copy-number variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

The sequence and analysis of duplication-rich human chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Mitotic spindle regulation by Nde1 controls cerebral cortical size

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

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14 September 2017

Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Recent segmental duplications in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Molecular mechanisms for genomic disorders

1 reference

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14 September 2017

Positive selection of a gene family during the emergence of humans and African apes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

1 reference

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14 September 2017

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

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14 September 2017

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

14 September 2017

Deletion in chromosome region 22q11 in a child with CHARGE association.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

27 June 2018

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

3 September 2018

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

1 reference

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3 September 2018

Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658752

3 September 2018

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

1 reference

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3 September 2018

Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18550696

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18550696

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.055202

1 reference

Europe PubMed Central

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8 January 2020

PMC publication ID

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Europe PubMed Central

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8 January 2020

PubMed publication ID

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Europe PubMed Central

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8 January 2020

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