Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. (Q44727693)

5 December 2017

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. (English)

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5 December 2017

Dominique Stoppa-Lyonnet

12

object named as

Stoppa-Lyonnet D

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5 December 2017

Virginie Caux-Moncoutier

6

object named as

Caux-Moncoutier V

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5 December 2017

Houdayer C

1

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5 December 2017

Gauthier-Villars M

2

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5 December 2017

Laugé A

3

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5 December 2017

Pagès-Berhouet S

4

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5 December 2017

Dehainault C

5

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5 December 2017

Karczynski P

7

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5 December 2017

Tosi M

8

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5 December 2017

Doz F

9

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5 December 2017

Desjardins L

10

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5 December 2017

Couturier J

11

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5 December 2017

language of work or name

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1 February 2004

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5 December 2017

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5 December 2017

23

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5 December 2017

2

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5 December 2017

193-202

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Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

5 December 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Molecular detection of constitutional deletions in patients with retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

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7 January 2021

A general theory of carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

1 reference

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7 January 2021

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Incidence of retinoblastoma in children born after in-vitro fertilisation

1 reference

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7 January 2021

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

A splicing mutation in RB1 in low penetrance retinoblastoma

1 reference

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7 January 2021

The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parameters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10303

7 January 2021

Identifiers

DOI

10.1002/HUMU.10303

1 reference

5 December 2017

1 reference