(Q42436229)

English

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome

scientific article published on 10 December 2002

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 October 2017

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

author name string

Carla Olivieri

1

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

Paola Maraschio

2

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

Desiree Caselli

3

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

Carla Martini

4

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

Giampiero Beluffi

5

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

Emanuela Maserati

6

1 reference

Europe PubMed Central

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31 October 2017

Cesare Danesino

7

1 reference

Europe PubMed Central

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31 October 2017

publication date

10 December 2002

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Europe PubMed Central

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31 October 2017

European Journal of Pediatrics

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Europe PubMed Central

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31 October 2017

162

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Europe PubMed Central

PubMed publication ID

31 October 2017

2

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Europe PubMed Central

PubMed publication ID

31 October 2017

100-103

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metacarpophalangeal pattern profile analysis in Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12548386

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-002-1116-4

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 October 2017

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