Molecular diagnosis of vertebral segmentation disorders in humans (Q40041521)

16 September 2017

title

Molecular diagnosis of vertebral segmentation disorders in humans (English)

1 reference

16 September 2017

1 reference

16 September 2017

1 reference

16 September 2017

Robert D Blank

0 references

Olivier Pourquié

0 references

Philip F Giampietro

1 reference

16 September 2017

Kenro Kusumi

1 reference

16 September 2017

Olivier Tassy

1 reference

16 September 2017

Alberto S Cornier

1 reference

16 September 2017

Benjamin A Alman

1 reference

16 September 2017

Cathleen L Raggio

1 reference

16 September 2017

Ingrid Glurich

1 reference

16 September 2017

Peter D Turnpenny

1 reference

16 September 2017

language of work or name

English

0 references

publication date

1 October 2008

1 reference

Expert Opinion on Medical Diagnostics

16 September 2017

published in

1 reference

16 September 2017

1 reference

16 September 2017

1 reference

16 September 2017

page(s)

1107-1121

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

16 September 2017

1 reference

Control of dorsoventral patterning of somitic derivatives by notochord and floor plate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Long-range sclerotome induction by sonic hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Somite formation and patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Segmental patterning of the vertebrate embryonic axis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Mutated MESP2 causes spondylocostal dysostosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Glycosyltransferase activity of Fringe modulates Notch-Delta interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Mammalian Notch1 is modified with two unusual forms of O-linked glycosylation found on epidermal growth factor-like modules

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Molecular genetic analysis of the glycosyltransferase Fringe in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Controversies surrounding Jarcho-Levin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Pulmonary hypertension in Jarcho-Levin syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Facial features in Alagille syndrome: specific or cholestasis facies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Spinal deformity in patients born with oesophageal atresia and tracheo-oesophageal fistula

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Molecular analysis of congenital scoliosis: a candidate gene approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

An analysis of PAX1 in the development of vertebral malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Wnt3a plays a major role in the segmentation clock controlling somitogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Immunohistochemical analysis of the Brachyury protein in wild-type and mutant mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Mutation and cancer: statistical study of retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Hsp90 selectively modulates phenotype in vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Teratogenic potential of valproic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Hyperthermia as a teratogen: a review of experimental studies and their clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Drug and environmental factors associated with adverse pregnancy outcomes. Part II: Improvement with folic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Stage-specific skeletal and visceral defects of the I(Kr)-blocker almokalant: further evidence for teratogenicity via a hypoxia-related mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Defects in cervical vertebrae in boric acid-exposed rat embryos are associated with anterior shifts of hox gene expression domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Teratogenicity and developmental toxicity of chlorpyrifos. Maternal exposure during organogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Microarray analysis of somitogenesis reveals novel targets of different WNT signaling pathways in the somitic mesoderm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

A complex oscillating network of signaling genes underlies the mouse segmentation clock.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Folate modulates Hox gene-controlled skeletal phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

The spectrum of congenital anomalies of the VATER association: An international study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Abnormal vertebral segmentation and the notch signaling pathway in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Disruption of the somitic molecular clock causes abnormal vertebral segmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.10.1107

10.1517/17530059.2.10.1107

21 January 2018

Identifiers

DOI

1 reference

16 September 2017

1 reference