Identification of CANT1 mutations in Desbuquois dysplasia (Q37417858)

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scientific article published on 22 October 2009

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Language	Label	Description	Also known as
English	Identification of CANT1 mutations in Desbuquois dysplasia	scientific article published on 22 October 2009

Statements

instance of

scholarly article

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Europe PubMed Central

PMC publication ID

2775828

retrieved

20 August 2017

case report

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title

Identification of CANT1 mutations in Desbuquois dysplasia (English)

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Europe PubMed Central

PMC publication ID

2775828

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20 August 2017

author

Valérie Cormier-Daire

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21

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Valérie Cormier-Daire

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Martine Le Merrer

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12

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Martine Le Merrer

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Andrea Superti-Furga

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15

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Andrea Superti-Furga

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Mounia Chami

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Mounia Chami

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4

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Stephen Robertson

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Stephen P Robertson

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16

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Geert Mortier

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Geert Mortier

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13

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Carine Le Goff

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Carine Le Goff

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17

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Celine Huber

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Céline Huber

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1

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Andrea Onetti Muda

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Andrea Onetti Muda

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18

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Pierre Bitoun

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Pierre Bitoun

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9

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Arnold Munnich

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20

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Arnold Munnich

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Europe PubMed Central

PMC publication ID

2775828

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20 August 2017

Margreet G.E.M. Ausems

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8

object named as

Margreet G E M Ausems

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Europe PubMed Central

PMC publication ID

2775828

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20 August 2017

author name string

Bénédicte Oulès

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2

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Europe PubMed Central

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2775828

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Marta Bertoli

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3

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Europe PubMed Central

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2775828

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Mélanie Fradin

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5

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Europe PubMed Central

PMC publication ID

2775828

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20 August 2017

Yasemin Alanay

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6

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Europe PubMed Central

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2775828

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Lihadh I Al-Gazali

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7

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Europe PubMed Central

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2775828

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20 August 2017

Denise P Cavalcanti

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10

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Europe PubMed Central

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2775828

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20 August 2017

Alexander Krebs

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11

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Europe PubMed Central

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2775828

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Yousef Shafeghati

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14

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2775828

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Patrizia Paterlini-Bréchot

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19

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Europe PubMed Central

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2775828

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20 August 2017

language of work or name

English

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publication date

22 October 2009

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Europe PubMed Central

PMC publication ID

2775828

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20 August 2017

published in

American Journal of Human Genetics

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Europe PubMed Central

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2775828

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20 August 2017

volume

85

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Europe PubMed Central

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2775828

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issue

5

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Europe PubMed Central

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2775828

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20 August 2017

page(s)

706-710

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Europe PubMed Central

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2775828

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20 August 2017

cites work

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775828

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6 September 2017

Uracil nucleotides: from metabolic intermediates to neuroprotection and neuroinflammation

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6 September 2017

APY-1, a novel Caenorhabditis elegans apyrase involved in unfolded protein response signalling and stress responses.

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6 September 2017

Calcium signaling

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PubMed Central

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6 September 2017

International Union of Pharmacology LVIII: update on the P2Y G protein-coupled nucleotide receptors: from molecular mechanisms and pathophysiology to therapy

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6 September 2017

Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change

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Structure and protein design of a human platelet function inhibitor

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6 September 2017

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775828

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6 September 2017

Bacterial expression and characterization of a novel, soluble, calcium-binding, and calcium-activated human nucleotidase

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6 September 2017

Cloning, expression, and characterization of a soluble calcium-activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases

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PubMed Central

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6 September 2017

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

1 reference

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PubMed Central

reference URL

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retrieved

2 September 2018

Desbuquois dysplasia, a reevaluation with abnormal and ?normal? hands: Radiographic manifestations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19853239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Desbuquois syndrome: clinical, radiographic, and morphologic characterization

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19853239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19853239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2009.10.001

1 reference

stated in

Europe PubMed Central

PMC publication ID

2775828

retrieved

20 August 2017

PMC publication ID

2775828

1 reference

stated in

Europe PubMed Central

PMC publication ID

2775828

retrieved

20 August 2017

PubMed publication ID

19853239

1 reference

stated in

Europe PubMed Central

PMC publication ID

2775828

retrieved

20 August 2017

ResearchGate publication ID

38032703

0 references

 

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