Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome (Q21710714)

2

Karen

Staehling-Hampton

1 reference

7 February 2023

Kym M Delventhal

3

Kym M

Delventhal

1 reference

7 February 2023

Yumiko Saga

4

Yumiko

Saga

1 reference

7 February 2023

Jean-Francois Caubet

5

Jean-Francois

Caubet

1 reference

7 February 2023

Nobuo Sasaki

6

Nobuo

Sasaki

1 reference

7 February 2023

Elizabeth Young

8

Elizabeth

Young

1 reference

7 February 2023

Norman Ramirez

9

Norman

Ramirez

1 reference

7 February 2023

Simon E Carlo

10

Simon E

Carlo

1 reference

7 February 2023

Jose Torres

11

Jose

Torres

1 reference

7 February 2023

John B Emans

12

John B

Emans

1 reference

7 February 2023

Peter D Turnpenny

13

Peter D

American Journal of Human Genetics

Turnpenny

1 reference

7 February 2023

language of work or name

English

0 references

publication date

June 2008

0 references

published in

0 references

volume

82

0 references

issue

6

0 references

page(s)

1334-41

0 references

cites work

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

1 reference

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Mutated MESP2 causes spondylocostal dysostosis in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427230

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

19 March 2017

1 reference

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Predicting deleterious amino acid substitutions

19 March 2017

1 reference

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Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

19 March 2017

1 reference

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The nonsense-mediated decay RNA surveillance pathway

19 March 2017

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19 March 2017

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The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity

6 April 2017

1 reference

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A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

19 March 2017

1 reference

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Dynamic expression and essential functions of Hes7 in somite segmentation

19 March 2017

1 reference

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The role of presenilin 1 during somite segmentation

19 March 2017

1 reference

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Segmental patterning of the vertebrate embryonic axis

19 March 2017

1 reference

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Abnormal vertebral segmentation and the notch signaling pathway in man.

12 September 2017

1 reference

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Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR).

12 September 2017

1 reference

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The segmentation clock: converting embryonic time into spatial pattern

12 September 2017

1 reference

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The making of the somite: molecular events in vertebrate segmentation

12 September 2017

1 reference

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Somite formation and patterning

12 September 2017

1 reference

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Airway abnormalities in Jarcho-Levin syndrome: a report of two cases

12 September 2017

1 reference

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A syndrome of bizarre vertebral anomalies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427230

Spondylothoracic dysplasia--a syndrome of congenital anomalies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427230

Spondylothoracic Dysplasia

12 September 2017

1 reference

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Spondylothoracic dysostosis: report of two cases and review of the literature

12 September 2017

1 reference

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PMUT: a web-based tool for the annotation of pathological mutations on proteins.

27 September 2017

1 reference

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Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427230

Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427230

Picture of the month: the EEC syndrome

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18485326

12 December 2020

inferred from PubMed ID database lookup

Second trimester prenatal diagnosis of the Jarcho-Levin syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18485326

12 December 2020

inferred from PubMed ID database lookup

Jarcho-Levin syndrome: unusual survival in a classical case

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18485326

12 December 2020

inferred from PubMed ID database lookup

SPONDYLOTHORACIC DYSPLASIA—A SYNDROME OF CONGENITAL ANOMALIES

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2008.04.014

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2008.04.014

1 reference

4532614

4532614

1 reference

1 reference

1 reference