Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (Q35136967)

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English	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.	scientific article

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

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Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (English)

1 reference

Europe PubMed Central

6 August 2017

Andrea Superti-Furga

17

object named as

Andrea Superti-Furga

0 references

Hanka Venselaar

object named as

Hanka Venselaar

8

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Christian Gilissen

object named as

Christian Gilissen

5

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Joris A Veltman

object named as

Joris A Veltman

15

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object named as

Sheila Unger

3

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13

object named as

Han G Brunner

1 reference

Europe PubMed Central

6 August 2017

Lisenka Vissers

1

object named as

Lisenka E L M Vissers

1 reference

Europe PubMed Central

6 August 2017

16

object named as

Bernhard Zabel

1 reference

Europe PubMed Central

6 August 2017

14

object named as

Luisa Bonafé

1 reference

Europe PubMed Central

6 August 2017

author name string

Ekkehart Lausch

2

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Europe PubMed Central

6 August 2017

Ana Belinda Campos-Xavier

4

1 reference

Europe PubMed Central

6 August 2017

Antonio Rossi

6

1 reference

Europe PubMed Central

6 August 2017

Marisol Del Rosario

7

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Europe PubMed Central

6 August 2017

Ute Knoll

9

1 reference

Europe PubMed Central

6 August 2017

Sheela Nampoothiri

10

1 reference

Europe PubMed Central

6 August 2017

Mohandas Nair

11

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Europe PubMed Central

6 August 2017

Jürgen Spranger

12

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Europe PubMed Central

6 August 2017

language of work or name

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publication date

5 May 2011

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6 August 2017

American Journal of Human Genetics

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Europe PubMed Central

6 August 2017

88

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Europe PubMed Central

6 August 2017

608-615

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Europe PubMed Central

6 August 2017

5

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Europe PubMed Central

6 August 2017

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146727

13 July 2018

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling

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13 July 2018

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

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1 reference

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Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

1 reference

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13 July 2018

Identification of CANT1 mutations in Desbuquois dysplasia

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Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

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A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation

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13 July 2018

JAWS coordinates chondrogenesis and synovial joint positioning

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13 July 2018

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

1 reference

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13 July 2018

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

1 reference

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13 July 2018

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

1 reference

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13 July 2018

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

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13 July 2018

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146727

13 July 2018

Helix propensities of the amino acids measured in alanine-based peptides without helix-stabilizing side-chain interactions.

1 reference

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13 July 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

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27 September 2018

A de novo paradigm for mental retardation.

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27 September 2018

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146727

27 September 2018

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

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27 September 2018

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

1 reference

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27 September 2018

Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.

1 reference

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27 September 2018

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146727

27 September 2018

ESyPred3D: Prediction of proteins 3D structures.

1 reference

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27 September 2018

Functional analysis of secreted and transmembrane proteins critical to mouse development.

1 reference

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A general approach to single-nucleotide polymorphism discovery.

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27 September 2018

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

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12 December 2020

based on heuristic

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Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

1 reference

https://pubmed.ncbi.nlm.nih.gov/21549340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21549340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic heterogeneity in Desbuquois dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21549340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.04.002

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

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