Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome (Q58061373)

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scientific article published on 01 January 2004

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English	Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome	scientific article published on 01 January 2004

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scholarly article

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Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome (English)

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nail-patella syndrome

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based on heuristic

inferred from title

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Asli Silahtaroglu

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Zuzana Zemanová

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Waldemar Famulski

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Vera M. Kalscheuer

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James R. Lupski

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James R Lupski

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Kyra Michalová

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Kyra Michalova

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Pawel Stankiewicz

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object named as

Paweł Stankiewicz

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author name string

Barbara Panasiuk

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Beata Stasiewicz-Jarocka

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Ewa Hubert

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Eugeniusz Tarasów

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Ewa Wasilewska

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Marie Kirchhoff

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Barbara Zadrozna-Tołwińska

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language of work or name

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publication date

1 January 2004

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American Journal of Medical Genetics

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124A

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179-191

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17 November 2019

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

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21 January 2018

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier

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21 January 2018

Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20367

21 January 2018

Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

1 reference

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Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: experiences with dysmorphic syndromes.

1 reference

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21 January 2018

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

1 reference

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Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

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21 January 2018

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

1 reference

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21 January 2018

Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns

1 reference

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Position effect in human genetic disease

1 reference

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21 January 2018

Paracentric inversion involving the long arm of chromosome 9 resulting in deletion of abl gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20367

21 January 2018

Fetus with a 9q22q34 interstitial deletion and hygroma

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20367

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Anthropometric definitions of dysmorphic facial signs

1 reference

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21 January 2018

Identifiers

10.1002/AJMG.A.20367

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14699618%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

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17 November 2019

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