(Q35202375)

7 August 2017

1 reference

title

Heterogeneity in Waardenburg syndrome (English)

1 reference

7 August 2017

1 reference

M. J. Hageman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A331943

23 March 2023

J. W. Delleman

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A331943

23 March 2023

language of work or name

English

0 references

publication date

1 September 1977

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/331943/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A331943

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/331943/?tool=EBI

23 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A331943

https://europepmc.org/articles/PMC1685402

23 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A331943

https://europepmc.org/articles/PMC1685402?pdf=render

23 March 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A331943

American Journal of Human Genetics

23 March 2023

published in

1 reference

7 August 2017

29

1 reference

7 August 2017

468-485

1 reference

7 August 2017

5

1 reference

7 August 2017

WAARDENBURG'S SYNDROME.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

REMARKABLE NEW DATA ON THE HEREDITY OF CERTAIN FORMS OF ALBINISM AND LEUKISM IN MAN

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[UNILATERAL MANIFESTATIONS OF TAPETO-RETINAL DEGENERATION, VITILIGO, POLIOSIS, GREY HAIR AND HYPOACOUSIA.]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Deafness as part of an hereditary syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

An English family with Waardenburg's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

28 July 2018

The first arch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[A new form of congenital hereditary deafness (Waardenburg's syndrome).]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's syndrome. Report of a family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Sensorineural hearing loss and congenital heterochromia iridum. Report of a case.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's syndrome and familial periodic paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

A coloured family showing features of Waardenburg's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg-Klein syndrome. Description of 2 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

28 July 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=1685402

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's syndrome in two siblings and their parents

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's Syndrome in Two Siblings, Both Parents and Their Maternal Grandmother

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Hearing disorders in Waardenburg's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Inter-oculo-irido-auditory dysplasia. (Waardenburg, van der Hoeve, Halberstsma syndrome)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

A Chinese family with Waardenburg's syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's Syndrome. Case report.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[The Waardenburg syndrome in tropical Africa]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Audiometric findings in 34 patients with Waardenburg's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

APROPOS OF THE WAARDENBURG-KLEIN SYNDROME

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

WAARDENBURG'S SYNDROME. STUDY OF 2 FAMILIES

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's syndrome in father and daughter.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[Hereditary deafness in the Waardenburg-Klein syndrome].

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[Waardenburg's syndrome.]

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[The Waardenburg-Klein syndrome.]

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Syndrome of Waardenburg with deafness.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[The Waardenburg syndrome.]

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's syndrome--report of a case in a non-Dutch family.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Sensorineural hearing loss and congenital heterochromia iridium.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Waardenburg's Syndrome in an Indian family

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

Anterior lenticonus and the Waardenburg syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685402

[Relation between congenital heterochromia, the Claude Bernard syndrome and the Fuchs syndrome.]

26 September 2018

1 reference

12 December 2020

A curious syndrome: deaf-mutism, iridal heterochromia and epilepsy

1 reference

12 December 2020

Eugenic problem in a family affected by Waardenburg-Klein syndrome

1 reference

12 December 2020

WAARDENBURG'S SYNDROME

1 reference

12 December 2020

WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE

1 reference

12 December 2020

WAARDENBERG SYNDROME. A STUDY OF A FAMILY WITH ONE CHILD MANIFESTING ALL THE CHARACTERISTICS

1 reference

12 December 2020

AUDITORY SYNDROMES ASSOCIATED WITH A DEPIGMENTATION. THEIR RELATION TO THE VOGT-KOYANAGI AND WAARDENBURG SYNDROMES. (PRESENTATION OF A CASE)

1 reference

12 December 2020

[DYSTOPIA OF THE INNER CANTHUS ASSOCIATED WITH AN INCOMPLETE FORM OF ROCHER-SHELDON SYNDROME.]

1 reference

12 December 2020

THE WHITE FORELOCK AND MYOPIA AS "INDICATOR" FACTORS OF THE WAARDENBURG-KLEIN SYNDROME

1 reference

12 December 2020

Waardenbrug's syndrome. A variation of the first arch syndrome

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

A deafmute with two congenital syndromes

1 reference

12 December 2020

The Waardenburg syndrome

1 reference

12 December 2020

Contribution to the knowledge of the Waardenburg and Klein syndrome

1 reference

12 December 2020

[Waardenburg syndrome (Presentation of 2 cases).]

1 reference

12 December 2020

[Problem of eugenics raised by a family with the Waardenburg-Klein syndrome.]

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

[On the pigmentary anomaly of the eye called "ocular albinism" and more on the case of the albino monozygotic twins described by Hanhart]

1 reference

12 December 2020

[Ocular abnormalities associated with the white forelock.]

1 reference

12 December 2020

[A new type of tapeto-retinal degeneration in the course of deaf-mutism]

1 reference

12 December 2020

The syndrome of Waardenburg

1 reference

12 December 2020

1 reference

12 December 2020

[Deaf-mutism with Waardenburg-Klein syndrome in children]

1 reference

12 December 2020

1 reference

12 December 2020

[Particular form of deaf-mutism with dystrophy of inferior lacrimal point, partial albinism and hypoplasia of iridal stroma]

1 reference

12 December 2020

[Mean values and normal limits, in relation to age, of some measurements of the head and orbital region]

1 reference

12 December 2020

[A new form of irregularly dominant deaf-mutism as a part of a more extensive syndrome.]

1 reference

12 December 2020

[A new syndrome of interest to ophthalmologists and otologist.]

1 reference

12 December 2020

Pigmentary disorders in association with congenital deafness

1 reference

12 December 2020

Waardenburg’s Syndrome in an African Child

1 reference

12 December 2020

Waardenburg’s syndrome

1 reference

12 December 2020

Waadenburg's syndrome

1 reference

12 December 2020

The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome

1 reference

12 December 2020

Waardenburg's syndrome. Identification of patients

1 reference

12 December 2020

Waardenburg's syndrome with fundus and other anomalies

1 reference

12 December 2020

[Waardenburg's syndrome. A familial case relating to 4 generations and 23 individuals]

1 reference

12 December 2020

Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome

1 reference

12 December 2020

The Waardenburg syndrome. Clinical note on 2 cases

1 reference

12 December 2020

Some syndromes of deafness associated with ophthalmologic disorders in children

1 reference

12 December 2020

Waardenburg's syndrome associated with unusual facial abnormalities

1 reference

12 December 2020

An Arab family with Waardenburg syndrome

1 reference

12 December 2020

A Case of Waardenburg's Syndrome

1 reference

12 December 2020

[A Swiss family with Klein-Waardenburg's syndrome associated with hyperkeratosis of the palms and feet and with serious oligophrenia]

1 reference

12 December 2020

Heterochromia iridis, hypoacousia and epilepsy in the same family

1 reference

12 December 2020

Waardenburg's syndrome. Report of a case with family studies

1 reference

12 December 2020

Clinical, dermatoglyphic and chromosomal study of Waardenburg's syndrome

1 reference

12 December 2020

Hypertelorism and Waardenburg's syndrome

1 reference

12 December 2020

Recognition and diagnosis of hereditary deafness with tomographic correlations

1 reference

12 December 2020

Medial canthoplasty in a child with Waardenburg's syndrome. Case report

1 reference

12 December 2020

Development and Significance of Heterochromia of the Iris

1 reference

12 December 2020

Sensorineural hearing loss and congenital heterochromia iridium

1 reference

12 December 2020

Waardenburg's syndrome with bilateral cleft lip

1 reference

12 December 2020

Waardenburg-Klein syndrome with blind lacrimal fistulas

1 reference

12 December 2020

A rare case: association of Waardenburg's syndrome with Greig's hypertelorism

1 reference

12 December 2020

[A case of Waardenburg-Klein syndrome]

1 reference

12 December 2020

[Waardenburg's syndrome (karyotyping)]

1 reference

12 December 2020

On the Waardenburg syndrome. Case reports

1 reference

12 December 2020

[Waardenburg syndrome]

1 reference

12 December 2020

[Waardenburg's syndrome]

1 reference

12 December 2020

[Heterochromia of the iris, deaf-mutism and electroencephalographic anomalies]

1 reference

12 December 2020

Tomography of the inner ear in a case of Waardenburg's syndrome

1 reference

12 December 2020

Waardenburg'ssyndrome during the first year of life

1 reference

12 December 2020

Picture of the month: Waardenburgh's syndrome

1 reference

12 December 2020

[Waardenburg's syndrome in three generations of one family]

1 reference

12 December 2020

Waardenberg's syndrome (apropos of 5 cases)

1 reference

12 December 2020

Waardenburg's syndrome. (Apropos of a familial case)

1 reference

12 December 2020

New observation of the severe form of the Klein-Waardenburg syndrome

1 reference

12 December 2020

[Waardenburg-Klein syndrome]

1 reference

12 December 2020

Waardenburg's syndrome demonstrated on 5 families

1 reference

12 December 2020

A pedigree of binocular heterochromia iridis associated with other anomalies (Waardenburg-Klein syndrome)

1 reference

12 December 2020

The Waardenburg syndrome. Description and report of a search

1 reference

12 December 2020

Identifiers

PMCID

1685402

1 reference

7 August 2017

1 reference