Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium (Q24670212)

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English	Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium	scientific article

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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium (English)

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Thomas B. Friedman

10

object named as

T B Friedman

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author name string

L A Farrer

1

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K M Grundfast

2

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J Amos

3

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K S Arnos

4

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J H Asher

5

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P Beighton

6

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S R Diehl

7

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J Fex

8

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C Foy

9

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language of work or name

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publication date

May 1992

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American Journal of Human Genetics

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50

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5

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902-13

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A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

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7 April 2017

Structural and evolutionary relationships among five members of the human gamma-crystallin gene family

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7 April 2017

RFLP of the human placental alkaline phosphatase gene (PLAP)

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

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7 April 2017

Strategies for multilocus linkage analysis in humans

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

Upper limb involvement in the Klein-Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

7 April 2017

Some statistical problems posed by Waardenburg's data on dystopia canthorum and associated anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

A systematic approach for detecting high-frequency restriction fragment length polymorphisms using large genomic probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Genetic heterogeneity in the Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

The human placental alkaline phosphatase gene and related sequences map to chromosome 2 band q37.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

A new statistical test for linkage heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

A highly polymorphic locus in human DNA revealed by cosmid-derived probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

A frequent HindIII RFLP of the human fibronectin gene (FN1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Isolation and mapping of a polymorphic DNA sequence pEKZ105 on chromosome 2 (D2S55).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

A frequent HaeIII RFLP of the human fibronectin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

A common MspI RFLP of the human fibronectin gene (FN1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Facial measurements in the newborn (towards syndrome delineation)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Allele frequency estimation from data on relatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Heterogeneity in Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 September 2017

Extensions to pedigree analysis. V. Optimal calculation of Mendelian likelihoods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

30 May 2018

An algorithm to improve the computational efficiency of genetic linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

30 May 2018

Managing data for genetic linkage analysis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

30 May 2018

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

30 May 2018

Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

30 May 2018

Childhood deafness in southern Africa. An aetiological survey of 3,064 deaf children.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 November 2018

The association of Waardenburg syndrome and Hirschsprung megacolon

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682585

28 November 2018

Waardenburg and Hirschsprung syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twenty loci form a continuous linkage map of markers for human chromosome 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS

1 reference

https://pubmed.ncbi.nlm.nih.gov/1349198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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