Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype (Q24297781)

GOA release 2020-03-11

limb development

1 reference

GOA release 2020-03-11

1 reference

1 reference

3

Lies Hoefsloot

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author name string

Ingrid Van de Laar

1

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Dennis Dooijes

2

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Marleen Simon

4

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Jeanette Hoogeboom

5

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Koenraad Devriendt

American Journal of Medical Genetics Part A

6

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language of work or name

English

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publication date

15 November 2007

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published in

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Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

PubMed

volume

143A

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issue

22

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page(s)

2712-5

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Limb anomalies: Developmental and evolutionary aspects

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Central nervous system malformations in the CHARGE association

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

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Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Speculations on the pathogenesis of CHARGE syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Bifurcation of the femur with tibial agenesis and additional anomalies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Limb anomalies in DiGeorge and CHARGE syndromes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Pathogenesis of split-hand/split-foot malformation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

Limb anomalies in the CHARGE association.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021

CHARGE association: an update and review for the primary pediatrician

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32008

7 January 2021