(Q33904880)

29 July 2017

A novel class of tests for the detection of mitochondrial DNA-mutation involvement in diseases (English)

1 reference

29 July 2017

A Novel Class of Tests for the Detection of Mitochondrial DNA–Mutation Involvement in Diseases (English)

1 reference

30 December 2023

0 references

1 reference

30 December 2023

author name string

Fengzhu Sun

1

1 reference

29 July 2017

Jing Cui

2

1 reference

29 July 2017

Haralambos Gavras

3

1 reference

29 July 2017

Faina Schwartz

4

1 reference

29 July 2017

language of work or name

English

0 references

publication date

30 April 2003

1 reference

full work available at URL

29 July 2017

http://www.cell.com/article/S0002929707604509/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730827

https://europepmc.org/articles/PMC1180311

30 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730827

https://europepmc.org/articles/PMC1180311?pdf=render

30 December 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730827

https://api.elsevier.com/content/article/PII:S0002929707604509?httpAccept=text/xml

30 December 2023

1 reference

https://api.elsevier.com/content/article/PII:S0002929707604509?httpAccept=text/plain

30 December 2023

1 reference

American Journal of Human Genetics

30 December 2023

published in

1 reference

29 July 2017

72

1 reference

29 July 2017

6

1 reference

29 July 2017

1515-1526

1 reference

Leber's hereditary optic atrophy: some clinical and aetiological considerations.

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

The neuropathology of hereditary optic atrophy (Leber's disease); the first complete anatomic study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Maternal transmission of diabetes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Likelihood formulation of parent-of-origin effects on segregation analysis, including ascertainment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Problems in the definition, interpretation, and evaluation of genetic heterogeneity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

The uniqueness of the imprinting mechanism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Strategies for mapping heterogeneous recessive traits by allele-sharing methods

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Genetic epidemiologic methods to screen for matrilineal inheritance in mitochondrial disorders.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Pedigree models for complex human traits involving the mitochondrial genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Mitochondrial DNA sequence variation in human evolution and disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Patterns of maternal transmission in bipolar affective disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Further clinical and pathological observations on Leber's optic atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

The affected-pedigree-member method of linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Higher risk of seizures in offspring of mothers than of fathers with epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

A multilocus extension of the affected-pedigree-member method of linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

The early phase in Leber hereditary optic atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Combining information within and between pedigrees for mapping complex traits.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

The GENNID Study. A resource for mapping the genes that cause NIDDM.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

A class of tests for linkage using affected pedigree members

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180311

Testing for contributions of mitochondrial DNA mutations to complex diseases

29 October 2018

1 reference

12 December 2020

SKELETAL MANIFESTATIONS IN LEBER'S HEREDITARY OPTIC ATROPHY. A POSSIBLE DISORDER OF CYANIDE METABOLISM

1 reference

12 December 2020

Leber's disease and dystonia: a mitochondrial disease

1 reference

12 December 2020

A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER ASSOCIATED WITH LEBER'S OPTIC ATROPHY. GENETICAL ASPECTS

1 reference

12 December 2020

Maternal component in the familial aggregation of hypertension

1 reference

12 December 2020

Leber's optic atrophy - an interdisciplinary study (author's transl)

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

12 December 2020

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

1 reference

12 December 2020

Charcot-Marie-Tooth disease with Leber optic atrophy

1 reference

12 December 2020

Red cell glutathione in Leber's optic atrophy

1 reference

12 December 2020

Mitochondrial DNA mutations in black Americans with hypertension-associated end-stage renal disease

1 reference

12 December 2020

Identifiers

DOI

10.1086/375656

1 reference

29 July 2017

1 reference

29 July 2017

1 reference