(Q57898317)

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20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

scientific article published on 01 October 2002

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13 November 2019

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12244548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Maria Clara Bonaglia

1

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13 November 2019

2

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13 November 2019

Renato Borgatti

6

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13 November 2019

Orsetta Zuffardi

7

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13 November 2019

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Romeo Carrozzo

3

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13 November 2019

Maria Elena Roncoroni

4

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13 November 2019

Rita Grasso

5

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13 November 2019

publication date

1 October 2002

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13 November 2019

American Journal of Medical Genetics Part A

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13 November 2019

112

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13 November 2019

2

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13 November 2019

154-159

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13 November 2019

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Possible intrachromosomal duplication in a case of trisomy 9p.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Structure of chromosomal duplicons and their role in mediating human genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Sex-dependent rearrangements resulting in CMT1A and HNPP.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Ring chromosome 9 with a 9p22.3-p24.3 duplication

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Molecular and cytogenetic characterization of 9p- abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10699

21 January 2018

Identifiers

10.1002/AJMG.10699

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12244548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12244548%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

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