(Q51972866)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17990063%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Clinical and molecular characterization of Italian patients affected by Cohen syndrome (English)

1 reference

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9 January 2020

0 references

13

1 reference

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9 January 2020

Francesca Ariani

5

1 reference

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9 January 2020

Ilaria Meloni

6

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9 January 2020

Donatella Milani

9

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9 January 2020

Antonio Federico

17

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9 January 2020

Francesca Mari

18

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9 January 2020

Alessandra Renieri

19

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9 January 2020

author name string

Eleni Katzaki

1

1 reference

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9 January 2020

Chiara Pescucci

2

1 reference

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9 January 2020

Vera Uliana

3

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9 January 2020

Filomena Tiziana Papa

4

1 reference

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9 January 2020

Manuela Priolo

7

1 reference

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9 January 2020

Angelo Selicorni

8

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9 January 2020

Rita Fischetto

10

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9 January 2020

Maria Elena Celle

11

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9 January 2020

Rita Grasso

12

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9 January 2020

Francesco Brancati

14

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9 January 2020

Marta Bordignon

15

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9 January 2020

Romano Tenconi

16

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9 January 2020

Ilaria Longo

20

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9 January 2020

publication date

8 November 2007

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Journal of Human Genetics

9 January 2020

published in

1 reference

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9 January 2020

volume

52

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9 January 2020

issue

12

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9 January 2020

page(s)

1011-1017

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https://scigraph.springernature.com/pub.10.1007/s10038-007-0208-4

9 January 2020

exact match

0 references

cites work

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

1 reference

12 December 2020

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

1 reference

12 December 2020

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

1 reference

12 December 2020

Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity

1 reference

12 December 2020

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

1 reference

12 December 2020

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

1 reference

12 December 2020

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

1 reference

12 December 2020

Cohen syndrome in the Ohio Amish.

1 reference

12 December 2020

Confirmation of the Cohen syndrome

1 reference

12 December 2020

The Cohen syndrome in Israel.

1 reference

12 December 2020

Analysis of the human VPS13 gene family

1 reference

12 December 2020

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

1 reference

12 December 2020

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

1 reference

12 December 2020

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

1 reference

12 December 2020