(Q40213486)

13 November 2017

0 references

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome (English)

1 reference

13 November 2017

14

Fowzan S Alkuraya

1 reference

13 November 2017

4

Arif O Khan

1 reference

13 November 2017

Nisha Patel

1

1 reference

13 November 2017

Hanan E Shamseldin

2

1 reference

13 November 2017

Nadia Sakati

3

1 reference

13 November 2017

Ameen Softa

5

1 reference

13 November 2017

Fatima M Al-Fadhli

6

1 reference

13 November 2017

Mais Hashem

7

1 reference

13 November 2017

Firdous M Abdulwahab

8

1 reference

13 November 2017

Tarfa Alshidi

9

1 reference

13 November 2017

Rana Alomar

10

1 reference

13 November 2017

Eman Alobeid

11

1 reference

13 November 2017

Salma M Wakil

12

1 reference

13 November 2017

Dilek Colak

13

1 reference

13 November 2017

language of work or name

English

0 references

publication date

1 May 2017

1 reference

American Journal of Human Genetics

13 November 2017

1 reference

13 November 2017

100

1 reference

13 November 2017

5

1 reference

13 November 2017

831-836

1 reference

Discovery of mutations for Mendelian disorders

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Mutations in LRPAP1 are associated with severe myopia in humans

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

GDNF-inducible zinc finger protein 1 is a sequence-specific transcriptional repressor that binds to the HOXA10 gene regulatory region

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Multiple congenital dislocations associated with characteristic facial abnormality

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Identification of a Novel Glial Cell Line-derived Neurotrophic Factor-inducible Gene Required for Renal Branching Morphogenesis

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Severe cardiac anomalies in sibs with Larsen syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Larsen syndrome in siblings with consanguineous parents

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5420357

Prenatal diagnosis of recurrent Larsen syndrome: Further definition of a lethal variant

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28475863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation of CANT1 causes Desbuquois dysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28475863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.04.008

1 reference

13 November 2017

1 reference

13 November 2017

PubMed publication ID

28475863

1 reference