Mouse and hamster mutants as models for Waardenburg syndromes in humans (Q30495399)

6 October 2017

Mouse and hamster mutants as models for Waardenburg syndromes in humans (English)

1 reference

6 October 2017

Asher JH Jr

1

1 reference

PMCID

1017240

6 October 2017

Friedman TB

series ordinal

2

1 reference

PMCID

1017240

6 October 2017

language of work or name

English

0 references

publication date

1 October 1990

1 reference

Journal of Medical Genetics

6 October 2017

1 reference

6 October 2017

27

1 reference

6 October 2017

10

1 reference

6 October 2017

618-626

1 reference

An Association of Hereditary Eye Defects with White Spotting

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Further scoring types in sequential linkage tests, with a critical review of autosomal and partial sex linkage in man.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

A histological examination of the pars distalis from the Syrian hamster mutant Anophthalmic white (Wh).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Upper limb involvement in the Klein-Waardenburg syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

The primary ultrastructural defect caused by anophthalmic white (Wh) in the Syrian hamster

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Waardenburg syndrome--penetrance of major signs.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Waardenburg's syndrome: variations in expressivity.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

A case of deletion 2q35----qter and a peculiar phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

The human homologs of the raf (mil) oncogene are located on human chromosomes 3 and 4

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

A new oncogene, c-raf, is located on mouse chromosome 6.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Effects of pinealectomy on reproduction in the Syrian hamster mutant anophthalmic white (Wh).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Animal models of pigment and hearing abnormalities in man

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

20 June 2018

The Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

A Mutation Influencing the Transportation of Manganese, L-Dopa, and L-Tryptophan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Genetic heterogeneity in the Waardenburg syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

The relationship between abnormalities of pigmentation and of the inner ear.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Mouse DNA 'fingerprints': analysis of chromosome localization and germ-line stability of hypervariable loci in recombinant inbred strains

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Mammalian genome organization: an evolutionary view

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Report of the committee on comparative mapping

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Maps of linkage and synteny homologies between mouse and man.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Distal 2q duplication: Report of two familial cases and an attempt to define a syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Heterogeneity in Waardenburg syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Segregation of ABO, AK1and ACONSin families with abnormalities of chromosome 9

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Assignment of the AK1:Np:ABO linkage group to human chromosome 9

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Lysosomal dysfunctions associated with mutations at mouse pigment genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Ophthalmological Findings in 34 Patients with Waardenburg Syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Studies on Spotting Patterns I. Analysis of Quantitative Variations in the Pied Spotting of the House Mouse.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Congenital deafness in white cats.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

Site of gene action of the white allele (Miwh) of the microphthalmia locus: a dermal-epidermal recombination study.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

The association of Waardenburg syndrome and Hirschsprung megacolon

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017240

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

26 November 2018

1 reference

12 December 2020

Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects

1 reference

12 December 2020

A new allele of microphthalmia induced in the mouse: microphthalmia--defective iris (midi)

1 reference

12 December 2020

Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV

1 reference

12 December 2020

Restriction fragment length polymorphism (RFLP): applications in human chromosome mapping and genetic disease research

1 reference

12 December 2020

Deaf white mink: electron microscopic study of the inner ear

1 reference

12 December 2020

Analysis for possible linkage between the loci for the Waardenburg syndrome and various blood groups and serological traits

1 reference

12 December 2020

Gene-induced embryological modifications of primordial germ cells in the mouse

1 reference

12 December 2020

Effects of the gene Wh on reproduction in the Syrian hamster, Mesocricetus auratus

1 reference

12 December 2020

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

1 reference

12 December 2020

Probable loose linkage between the AB0 locus and Waardenburg syndrome type I

1 reference

12 December 2020

GENETIC STUDIES OF THE SYRIAN HAMSTER. VI. ANOPHTHALMIC WHITE

1 reference

12 December 2020

Waardenburg's syndrome with fundus and other anomalies

1 reference

12 December 2020

Assignment of the rhodopsin gene to human chromosome 3

1 reference

12 December 2020

Waardenburg syndrome--two distinct types

1 reference

12 December 2020

Concerning the primary defect leading to the pleiotropic effects caused by anophthalmic white (Wh) in the Syrian hamster Mesocricetus auratus

1 reference

12 December 2020

Report of the committee on the genetic constitution of chromosomes 7, 8 and 9

1 reference

12 December 2020

A new allele at the patch locus in the mouse

1 reference

12 December 2020

An experimental analysis of the pigment defect caused by mutations at the W and S1 loci in mice

1 reference

12 December 2020

Diagnosis and penetrance of dystopia canthorum in Waardenburg syndrome type I (WS1)

1 reference

12 December 2020

Interstitial deletion 2q31 leads to q33

1 reference

12 December 2020

Waardenburg and Hirschsprung syndromes

1 reference

12 December 2020

Observations on the Histogenesis of the Inner Ear Degeneration of the Deaf White Cat and Its Possible Relationship to the Ætiology of Certain Unexplained Varieties of Human Congenital Deafness

1 reference

12 December 2020

Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis

1 reference

12 December 2020

Studies on megacolon in piebald mice

1 reference

12 December 2020

Current status of the ABO-Waardenburg syndrome type I linkage

1 reference

12 December 2020

The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus

1 reference

12 December 2020

A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)

1 reference

12 December 2020

THE ORIGIN OF THE ABNORMALITIES OF THE INNER EAR IN DREHER MICE

1 reference

12 December 2020

A gene triplet in the mouse

1 reference

12 December 2020

The neural crest and the acoustic ganglion

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.10.618

1 reference

6 October 2017

1 reference

6 October 2017

1 reference

PMCID

1017240