(Q49105252)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11146468%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype (English)

1 reference

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3 November 2019

1 reference

Smith-Magenis syndrome

1 reference

7

1 reference

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3 November 2019

author name string

F Natacci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11146468%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L Corrado

2

1 reference

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3 November 2019

M Pierri

3

1 reference

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3 November 2019

M Rossetti

4

1 reference

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3 November 2019

C Zuccarini

5

1 reference

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3 November 2019

P Riva

6

1 reference

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3 November 2019

L Larizza

8

1 reference

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3 November 2019

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11146468%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

3 November 2019

published in

1 reference

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3 November 2019

volume

95

1 reference

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3 November 2019

issue

5

1 reference

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3 November 2019

page(s)

467-472

1 reference

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Clinical and molecular analysis in Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Joubert syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001218%2995%3A5%3C467%3A%3AAID-AJMG11%3E3.0.CO%3B2-T

10.1002/1096-8628(20001218)95:5<467::AID-AJMG11>3.0.CO;2-T

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11146468%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference