(Q36035703)

11 August 2017

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism (English)

1 reference

11 August 2017

1 reference

microdeletion syndrome

1 reference

4

Lisenka E L M Vissers

1 reference

11 August 2017

8

Arjan P M de Brouwer

1 reference

11 August 2017

11

Bert B A de Vries

1 reference

11 August 2017

David A Koolen

1

1 reference

11 August 2017

Juliette Dupont

2

1 reference

11 August 2017

Nicole de Leeuw

3

1 reference

11 August 2017

Simone P A van den Heuvel

5

1 reference

11 August 2017

Alyson Bradbury

6

1 reference

11 August 2017

James Steer

7

1 reference

11 August 2017

Leo P Ten Kate

9

1 reference

11 August 2017

Willy M Nillesen

10

1 reference

11 August 2017

Michael J Parker

12

1 reference

11 August 2017

1 February 2012

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

20

1 reference

11 August 2017

7

1 reference

11 August 2017

729-733

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.1

11 August 2017

0 references

cites work

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

A common inversion under selection in Europeans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

Genome structural variation and sporadic disease traits.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376266

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

23 September 2018

1 reference

12 December 2020

Genetic Compensation in a Human Genomic Disorder

1 reference

12 December 2020

Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study

1 reference

12 December 2020

Recurrence risk in de novo structural chromosomal rearrangements

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.1

1 reference

11 August 2017

1 reference

11 August 2017

1 reference