Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa (Q35249537)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

7 August 2017

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

1 reference

Europe PubMed Central

7 August 2017

maternal uniparental disomy of chromosome 1

0 references

1 reference

based on heuristic

inferred from title

junctional epidermolysis bullosa

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

L Pulkkinen

1

1 reference

Europe PubMed Central

7 August 2017

F Bullrich

2

1 reference

Europe PubMed Central

7 August 2017

P Czarnecki

3

1 reference

Europe PubMed Central

7 August 2017

L Weiss

4

1 reference

Europe PubMed Central

7 August 2017

J Uitto

5

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 September 1997

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

61

1 reference

Europe PubMed Central

7 August 2017

3

1 reference

Europe PubMed Central

7 August 2017

611-619

1 reference

Europe PubMed Central

7 August 2017

Detection of novel LAMC2 mutations in 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=1715967

12 July 2018

Molecular complexity of the cutaneous basement membrane zone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Dicentric (1;15) in myeloid disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Mouse homologues of human hereditary disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the 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=1715967

12 July 2018

Etiology of nondisjunction in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Uniparental disomy and genomic imprinting as causes of human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

High frequency of EBV association with non-random abnormalities of the chromosome region 1q21-25 in AIDS-related Burkitt's lymphoma-derived cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in 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=1715967

12 July 2018

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

The origin of mosaic Down syndrome: four cases with chromosome markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 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=1715967

12 July 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=1715967

12 July 2018

Genomic imprinting: review and relevance to human diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 2018

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715967

12 July 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=1715967

12 July 2018

Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomes 1, 11, and 13 are frequently involved in karyotypic abnormalities in metastatic Merkel cell carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial trisomy 1q, an uncommon chromosomal aberration in erythroleukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased parental ages and uniparental disomy 15: a paternal age effect?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a Homozygous Exon-Skipping Mutation in the LAMC2 Gene in a Patient with Herlitz's Junctional Epidermolysis Bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35249537&oldid=2041762069"