High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. (Q41733577)

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2 February 2020

title

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome (English)

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2 February 2020

12

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Rosangela Artuso

6

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2 February 2020

Joussef Hayek

19

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Francesca Mari

25

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Alessandra Renieri

26

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Francesca Ariani

27

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author name string

Veronica Parri

1

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2 February 2020

Eleni Katzaki

2

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2 February 2020

Vera Uliana

3

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2 February 2020

Francesca Scionti

4

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Rossella Tita

5

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Ilaria Longo

7

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Renske Boschloo

8

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Raymon Vijzelaar

9

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Angelo Selicorni

10

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Francesco Brancati

11

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Leopoldo Zelante

13

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Christian P Hamel

14

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2 February 2020

Pierre Sarda

15

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Seema R Lalani

16

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Rita Grasso

17

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Sabrina Buoni

18

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Laurent Servais

20

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Bert B A de Vries

21

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Nelly Georgoudi

22

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Sheena Nakou

23

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Michael B Petersen

24

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publication date

12 May 2010

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European Journal of Human Genetics

2 February 2020

published in

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volume

18

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issue

10

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page(s)

1133-1140

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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Analysis of the human VPS13 gene family

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Confirmation of the Cohen syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Cohen syndrome in the Ohio Amish.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

18 August 2018

Identifiers

DOI

10.1038/EJHG.2010.59

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Dimensions Publication ID

2 February 2020

0 references

1 reference

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2 February 2020

PubMed publication ID

20461111

1 reference