(Q33682561)

28 July 2017

title

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24 (English)

1 reference

28 July 2017

Harrar HS

1

1 reference

28 July 2017

Jeffery S

series ordinal

2

1 reference

28 July 2017

Patton MA

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

10

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28 July 2017

page(s)

774-777

1 reference

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Localization of the McLeod locus (XK) within Xp21 by deletion analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Visual development in the blepharophimosis syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

The Marden-Walker syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Activin/inhibin beta B subunit gene disruption leads to defects in eyelid development and female reproduction.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Blepharophimosis syndrome is linked to chromosome 3q.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051698

Surgical treatment of congenital palpebral phimosis; the Y-V operation

30 October 2018

1 reference

12 December 2020

Blepharophimosis sequence andde novo balanced autosomal translocation [46, XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23

1 reference

12 December 2020

A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3.

1 reference

12 December 2020

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

1 reference

12 December 2020

COMPLICATED FAMILIAL BLEPHAROPHIMOSIS. STUDY OF MEMBERS OF THE BLE FAMILY

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.10.774

1 reference

28 July 2017

1 reference

28 July 2017

1 reference