Robinow syndrome (Q24679335)

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Language	Label	Description	Also known as
English	Robinow syndrome	scientific article

Statements

scholarly article

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1 reference

Europe PubMed Central

Robinow syndrome (English)

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Robinow syndrome

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author name string

M A Patton

1

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A R Afzal

2

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language of work or name

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publication date

May 2002

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Journal of Medical Genetics

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39

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5

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305-10

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A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

A novel family of cell surface receptors with tyrosine kinase-like domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

The Robinow (fetal face) syndrome: a continuing puzzle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

7 April 2017

Unusual traits associated with Robinow syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 September 2017

Localization of the human Ror1 gene (NTRKR1) to chromosome 1p31-p32 by fluorescence in situ hybridization and somatic cell hybrid analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 September 2017

A novel Drosophila receptor tyrosine kinase expressed specifically in the nervous system. Unique structural features and implication in developmental signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 September 2017

Dror, a potential neurotrophic receptor gene, encodes a Drosophila homolog of the vertebrate Ror family of Trk-related receptor tyrosine kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 September 2017

A newly recognized dwarfing syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 September 2017

Robinow syndrome without mesomelic 'brachymelia': a report of five cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 September 2017

A C. elegans Ror receptor tyrosine kinase regulates cell motility and asymmetric cell division

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

30 May 2018

Recessive Robinow syndrome: with emphasis on endocrine functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

30 May 2018

Robinow syndrome with developmental brain dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

30 May 2018

Fetal face syndrome with mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

30 May 2018

Genetic basis of endocrine disease. 1. Molecular genetics of insulin resistant diabetes mellitus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

30 May 2018

Expression of the receptor tyrosine kinase genes, Ror1 and Ror2, during mouse development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 November 2018

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 November 2018

Robinow syndrome in monozygotic twins with normal stature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735132

28 November 2018

Robinow's syndrome: prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Micropenis. III. Primary hypogonadism, partial androgen insensitivity syndrome, and idiopathic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robinow syndrome: report of two patients with cystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital heart disease in Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12011143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.39.5.305

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