(Q35021975)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

1 reference

Albert de la Chapelle

8

object named as

A de la Chapelle

1 reference

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12 November 2019

author name string

P Paavola

1

1 reference

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12 November 2019

K Avela

2

1 reference

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12 November 2019

N Horelli-Kuitunen

3

1 reference

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12 November 2019

M Bärlund

4

1 reference

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12 November 2019

A Kallioniemi

5

1 reference

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12 November 2019

N Idänheimo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

M Kyttälä

7

1 reference

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12 November 2019

A Palotie

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A E Lehesjoki

10

1 reference

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12 November 2019

L Peltonen

11

1 reference

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12 November 2019

publication date

1 March 1999

1 reference

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12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

9

1 reference

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12 November 2019

issue

3

1 reference

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12 November 2019

page(s)

267-276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

A gene for Meckel syndrome maps to chromosome 11q13.

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Isolation and characterization of RAD51C, a new human member of the RAD51 family of related genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Genetic heterogeneity of Meckel syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISH

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

A Gene Map of the Human Genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

A comprehensive genetic map of the human genome based on 5,264 microsatellites

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Visual mapping by fiber-FISH.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

An STS-based map of the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Targeted disruption of Bcl-2 alpha beta in mice: occurrence of gray hair, polycystic kidney disease, and lymphocytopenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Mulibrey nanism: three additional patients and a review of 39 patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

A YAC contig map of the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

The Meckel syndrome: clinicopathological findings in 67 patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Separation of large DNA molecules by contour-clamped homogeneous electric fields

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Pathology of renal and hepatic anomalies in Meckel syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Rapid detection of human chromosome 21 aberrations by in situ hybridization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310730

Fiber-FISH: experiences and a refined protocol

25 October 2018

1 reference

12 December 2020

Clinical and genetic heterogeneity in Meckel syndrome

1 reference

12 December 2020

The Meckel syndrome in Finland: epidemiologic and genetic aspects

1 reference

12 December 2020

A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes

1 reference

12 December 2020

Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

10077533

1 reference