(Q37156088)

18 August 2017

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis (English)

1 reference

autosomal recessive isolated ectopia lentis 2

18 August 2017

1 reference

0 references

1 reference

6

Suzanne Leal

1 reference

18 August 2017

Dina Ahram

1

1 reference

18 August 2017

T Shawn Sato

2

1 reference

18 August 2017

Abdulghani Kohilan

3

1 reference

18 August 2017

Marwan Tayeh

4

1 reference

18 August 2017

Shan Chen

5

1 reference

18 August 2017

Mahmoud Al-Salem

7

1 reference

18 August 2017

Hatem El-Shanti

8

1 reference

18 August 2017

language of work or name

English

0 references

publication date

5 February 2009

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

84

1 reference

18 August 2017

2

1 reference

18 August 2017

274-278

1 reference

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Anterior axial lens subluxation, progressive myopia, and angle-closure glaucoma: recognition and treatment of atypical presentation of ectopia lentis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

The ADAMTS metalloproteinases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

A combined linkage-physical map of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

TSRC1, a widely expressed gene containing seven thrombospondin type I repeats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Allegro, a new computer program for multipoint linkage analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Faster sequential genetic linkage computations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Ectopia lentis et pupillae syndrome in three generations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Isolated congenital ectopia lentis with autosomal dominant inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Synthesis and structural organization of zonular fibers during development and aging

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Lens subluxation in homocystinuria. A case report

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668005

Marfan syndrome, lens subluxation, and open-angle glaucoma

4 December 2018

1 reference

12 December 2020

Isolated ectopia lentis: potential role of matrix metalloproteinases in fibrillin degradation

1 reference

12 December 2020

The zonules and the elastic microfibrillar system in the ciliary body

1 reference

12 December 2020

Familial simple ectopia lentis: a case study

1 reference

12 December 2020

Familial simple ectopia lentis. A probable autosomal recessive form

1 reference

12 December 2020

Autosomal recessive ectopia lentis in two Arab family pedigrees

1 reference

12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

12 December 2020

Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait

1 reference

12 December 2020

Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2009.01.007

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19200529

1 reference