(Q58827694)

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De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22903806%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22903806%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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cerebellar hypoplasia

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22903806%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Giuliana Giardino

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11 February 2020

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11 February 2020

Claudio Pignata

13

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11 February 2020

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Lucio Nitsch

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11 February 2020

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Rosa Romano

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11 February 2020

Alfonso Romano

3

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11 February 2020

Anne Durandy

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11 February 2020

Rita Genesio

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11 February 2020

Eleonora Di Gregorio

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11 February 2020

Simona Cavalieri

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11 February 2020

Giovanna Abate

10

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11 February 2020

Luigi Del Vecchio

11

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11 February 2020

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17 August 2012

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11 February 2020

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6

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American Journal of Medical Genetics

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11 February 2020

158A

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11 February 2020

10

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11 February 2020

2571-2576

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11 February 2020

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Lymphocyte radiosensitivity inBRCA1 andBRCA2 mutation carriers and implications for breast cancer susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Retinoblastoma associated with chromosomal 13q14 deletion mosaicism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Immunoglobulin class switch recombination deficiencies.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

DNA strand break repair and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Abnormalities of human chromosome 13 and in vitro radiosensitivity A study of 19 fibroblast strains

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35556

21 January 2018

Identifiers

10.1002/AJMG.A.35556

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22903806%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22903806%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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