Search details
1.
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
J Med Genet
; 61(1): 78-83, 2023 Dec 21.
Article
in English
| MEDLINE | ID: mdl-37541786
2.
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
J Med Genet
; 60(5): 460-463, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36270768
3.
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
PLoS Genet
; 12(2): e1005888, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26925970
4.
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Hum Mutat
; 37(5): 488-94, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26857394
5.
The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.
Hum Mol Genet
; 23(19): 5243-50, 2014 Oct 01.
Article
in English
| MEDLINE | ID: mdl-24858910
6.
Evaluation of the detection of the homologous transfusion of a red blood cell concentrate in vivo for antidoping.
Drug Test Anal
; 15(11-12): 1417-1429, 2023.
Article
in English
| MEDLINE | ID: mdl-36709998
7.
Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers.
J Mol Diagn
; 23(12): 1714-1721, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34656762
8.
Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.
Eur J Cancer
; 154: 277-287, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34298378
9.
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
Nat Commun
; 12(1): 5578, 2021 09 22.
Article
in English
| MEDLINE | ID: mdl-34552068
10.
Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.
JAMA Ophthalmol
; 138(8): 843-850, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32556071
11.
ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis.
Eur J Hum Genet
; 27(5): 792-800, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30683922
12.
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Hum Mutat
; 29(7): 975-82, 2008 Jul.
Article
in English
| MEDLINE | ID: mdl-18449911
13.
Genotype-phenotype correlations in hereditary familial retinoblastoma.
Hum Mutat
; 28(3): 284-93, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17096365
14.
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Eur J Hum Genet
; 15(4): 473-7, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17299438
15.
Mosaicism and prenatal diagnosis options: insights from retinoblastoma.
Eur J Hum Genet
; 25(3): 381-383, 2017 02.
Article
in English
| MEDLINE | ID: mdl-28000698
16.
Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma.
Prenat Diagn
; 31(11): 1106-8, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21905051
17.
Combination of Carboplatin and Bevacizumab Is an Efficient Therapeutic Approach in Retinoblastoma Patient-Derived Xenografts.
Invest Ophthalmol Vis Sci
; 57(11): 4916-4926, 2016 Sep 01.
Article
in English
| MEDLINE | ID: mdl-27654418
18.
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.
Hum Mutat
; 21(6): 654, 2003 Jun.
Article
in English
| MEDLINE | ID: mdl-14961556
19.
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
Eur J Hum Genet
; 21(4): 460-4, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-22909775
20.
Screening for genomic rearrangements by multiplex PCR/liquid chromatography.
Methods Mol Biol
; 688: 127-42, 2011.
Article
in English
| MEDLINE | ID: mdl-20938836