(Q33681695)

English

Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

López-Gutiérrez AU

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Riba L

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ordoñez-Sánchez ML

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ramírez-Jiménez S

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Cerrillo-Hinojosa M

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Tusié-Luna MT

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 December 1998

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

35

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1014-1019

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

High frequency of nonclassical steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Structure of human steroid 21-hydroxylase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Uniparental disomy as a mechanism for human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051514

21 June 2018

A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Genetic diversity of 3 DNA probes in the DNA fingerprinting of a Mexican population]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sexual preference of meiotic recombination within the H-2 complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic imprinting in an Angelman and Prader-Willi translocation family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9863599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.12.1014

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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