(Q28183393)

15

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Brunella Franco

16

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Sylvie Odent

9

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author name string

Francesca De Falco

1

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Silvia Cainarca

2

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Grazia Andolfi

3

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Rosa Ferrentino

4

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Caterina Berti

5

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German Rodríguez Criado

6

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Olaf Rittinger

7

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Nick Dennis

8

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Amit Rastogi

10

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Jan Liebelt

11

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David Chitayat

12

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Robin Winter

13

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Harindar Jawanda

14

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Germana Meroni

American Journal of Medical Genetics Part A

17

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language of work or name

English

0 references

publication date

15 July 2003

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published in

1 reference

Opitz (BBB/G) syndrome: oral manifestations

PubMed

volume

120A

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page(s)

222-8

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issue

2

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

Phenotypic overlap of the BBB and G syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

The tripartite motif family identifies cell compartments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

The Opitz syndrome gene product, MID1, associates with microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10265