(Q34386583)

English

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

congenital disorder

0 references

lethal congenital contracture syndrome

0 references

author name string

Mäkelä-Bengs P

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Järvinen N

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Vuopala K

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Suomalainen A

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Ignatius J

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Sipilä M

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Herva R

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Palotie A

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Peltonen L

9

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

63

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

506-516

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Molecular characterization and pattern of tissue expression of the gene for neutrophil gelatinase-associated lipocalin from humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Messages from an isolate: lessons from the Finnish gene pool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Clinical and molecular genetic features of congenital spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Notch-related genes in animal development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Antineurogenic phenotypes induced by truncated Notch proteins indicate a role in signal transduction and may point to a novel function for Notch in nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Comparative mapping of lipocalin genes in human and mouse: the four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24p3, and progestagen-associated endometrial protein map to HSA9 and MMU2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Notch1 is required for the coordinate segmentation of somites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Hereditary diseases in Finland; rare flora in rare soul

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

A lethal autosomal recessive syndrome of multiple congenital contractures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

tdic(9;12): a nonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: a Pediatric Oncology Group Study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Computer-simulation methods in human linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

6 July 2018

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

28 July 2018

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

27 October 2018

Molecular cloning and expression of a cDNA encoding NGAL: a lipocalin expressed in human neutrophils.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377309

27 October 2018

The lipocalin protein family: a role in cell regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage probability and its approximate confidence interval under possible heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fiber-FISH: experiences and a refined protocol

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 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=Q34386583&oldid=1507304564"