5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C (Q57136624)

3

object named as

Christa Lese Martin

0 references

author name string

Christopher W. Carr

1

0 references

Holly H. Zimmerman

2

0 references

Adam C. Byrd

5

0 references

Omar A. Abdul-Rahman

American Journal of Medical Genetics

6

0 references

language of work or name

English

0 references

publication date

27 May 2011

0 references

published in

0 references

volume

155

0 references

issue

7

0 references

page(s)

1640-1645

0 references

cites work

RASA1: variable phenotype with capillary and arteriovenous malformations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Differential antagonism of Ras biological activity by catalytic and Src homology domains of Ras GTPase activation protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Mapping of the Human Genes Encoding Cyclin H (CCNH) and the CDK-Activating Kinase (CAK) Assembly Factor MAT1 (MNAT1) to Chromosome Bands 5q13.3–q14 and 14q23, Respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

5q14.3 deletion manifesting as mitochondrial disease and autism: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

From germline towards somatic mutations in the pathophysiology of vascular anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Refining the phenotype associated with MEF2C haploinsufficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Histone deacetylase degradation and MEF2 activation promote the formation of slow-twitch myofibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

A novel association between RASA1 mutations and spinal arteriovenous anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34059