Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families (Q42426333)

31 October 2017

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families (English)

1 reference

31 October 2017

10

1 reference

31 October 2017

Montserrat Ruiz

9

0 references

Ludger Schöls

15

object named as

Ludger Schöls

1 reference

31 October 2017

12

Olaf Riess

1 reference

31 October 2017

13

Rebecca Schüle

1 reference

31 October 2017

11

Stephan Züchner

1 reference

31 October 2017

Anne S Soehn

1

1 reference

31 October 2017

Tim W Rattay

2

1 reference

31 October 2017

Stefanie Beck-Wödl

3

1 reference

31 October 2017

Karin Schäferhoff

4

1 reference

31 October 2017

David Monk

5

1 reference

31 October 2017

Marion Döbler-Neumann

6

1 reference

31 October 2017

Konstanze Hörtnagel

7

1 reference

31 October 2017

Agatha Schlüter

8

1 reference

31 October 2017

Peter Bauer

14

1 reference

31 October 2017

language of work or name

English

0 references

publication date

17 June 2016

1 reference

31 October 2017

1 reference

31 October 2017

87

1 reference

31 October 2017

186-191

1 reference

31 October 2017

2

1 reference

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

31 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Mosaicism and uniparental disomy in prenatal diagnosis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

Clinical whole exome sequencing in child neurology practice.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4940069

First confirmed case with paternal uniparental disomy of chromosome 16

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27316240

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27316240

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000002843

1 reference

31 October 2017

1 reference

31 October 2017

1 reference