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Showing 1 to 12 of 14 entries
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CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1.

Mammalian genome : official journal of the International Mammalian Genome Society

Chen X, Yang L, Udar N, Liang T, Uhrhammer N, Xu S, Bay JO, Wang Z, Dandakar S, Chiplunkar S, Klisak I, Telatar M, Yang H, Concannon P, Gatti RA.
PMID: 27518307
Mamm Genome. 1997 Feb;8(2):129-33. doi: 10.1007/s003359900371.

Using a magnetic beads-mediated cDNA selection procedure and a fetal brain expression library, we identified a transcriptional unit within a cosmid positive for the marker D11S384. Pursuit of its full-length cDNA led to the cloning of the third candidate...

Identification of a novel pathogenic variant in .

Journal of genomics

Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.
PMID: 34646395
J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713. eCollection 2021.

Pathogenic variants (PVs) in

5' Region Large Genomic Rearrangements in the .

Cancers

Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
PMID: 34202044
Cancers (Basel). 2021 Jun 25;13(13). doi: 10.3390/cancers13133171.

BACKGROUND: Large genomic rearrangements (LGR) in METHODS: DNA from 20 families with one apparent duplication and nine deletions was analyzed with a dedicated comparative genomic hybridization (CGH) array, high-resolution BRCA1 Genomic Morse Codes analysis and Sanger sequencing.RESULTS: The apparent...

Use of gene expression profiles of peripheral blood lymphocytes to distinguish BRCA1 mutation carriers in high risk breast cancer families.

Cancer informatics

Vuillaume ML, Uhrhammer N, Vidal V, Vidal VS, Chabaud V, Jesson B, Kwiatkowski F, Bignon YJ.
PMID: 19352458
Cancer Inform. 2009;7:41-56. doi: 10.4137/cin.s931. Epub 2009 Mar 02.

Mutations in two major genes, BRCA1 and BRCA2, account for up to 30% of families with hereditary breast cancer. Unfortunately, in most families there is little to indicate which gene should be targeted first for mutation screening, which is...

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Hereditary cancer in clinical practice

Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Mégarbané A.
PMID: 22713736
Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7.

Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5-10 % of all BC cases, and germline mutations in BRCA1...

DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.

American journal of cancer research

Ollier M, Radosevic-Robin N, Kwiatkowski F, Ponelle F, Viala S, Privat M, Uhrhammer N, Bernard-Gallon D, Penault-Llorca F, Bignon YJ, Bidet Y.
PMID: 26328243
Am J Cancer Res. 2015 Jun 15;5(7):2113-26. eCollection 2015.

Among breast cancers, 10 to 15% of cases would be due to hereditary risk. In these familial cases, mutations in BRCA1 and BRCA2 are found in only 15% to 20%, meaning that new susceptibility genes remain to be found....

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.

Genes, chromosomes & cancer

Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ.
PMID: 33099839
Genes Chromosomes Cancer. 2021 Feb;60(2):73-78. doi: 10.1002/gcc.22911. Epub 2020 Nov 10.

Hereditary predisposition to cancer concerns between 5% and 10% of cancers. The main genes involved in the most frequent syndromes (hereditary breast and ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer syndrome) were identified in the 1990s. Exploration of their...

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

Frontiers in genetics

Cavaillé M, Ponelle-Chachuat F, Uhrhammer N, Viala S, Gay-Bellile M, Privat M, Bidet Y, Bignon YJ.
PMID: 30233642
Front Genet. 2018 Aug 31;9:353. doi: 10.3389/fgene.2018.00353. eCollection 2018.

A family with an aggregation of rare early onset multiple primary tumors has been managed in our oncogenetics department: the proband developed four early onset carcinomas between ages 31 and 33 years, including acral melanoma, bilateral clear cell renal...

Full in-frame exon 3 skipping of .

Oncotarget

Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
PMID: 29707112
Oncotarget. 2018 Apr 03;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 03.

Germline pathogenic variants in the

Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.

BioMed research international

Poulet A, Privat M, Ponelle F, Viala S, Decousus S, Perin A, Lafarge L, Ollier M, El Saghir NS, Uhrhammer N, Bignon YJ, Bidet Y.
PMID: 27656653
Biomed Res Int. 2016;2016:5623089. doi: 10.1155/2016/5623089. Epub 2016 Aug 30.

Screening for

Dynamic exciton localisation in a pyrene-BODIPY-pyrene dye conjugate.

Physical chemistry chemical physics : PCCP

Auerhammer N, Schulz A, Schmiedel A, Holzapfel M, Hoche J, Röhr MIS, Mitric R, Lambert C.
PMID: 30931442
Phys Chem Chem Phys. 2019 May 08;21(18):9013-9025. doi: 10.1039/c9cp00908f.

The photophysics of a molecular triad consisting of a BODIPY dye and two pyrene chromophores attached in 2-position are investigated by steady state and fs-time resolved transient absorption spectroscopy as well as by field induced surface hopping (FISH) simulations....

Modulation of molybdenum-centered redox potentials and electron-transfer rates by sulfur versus oxygen ligation.

Inorganic chemistry

Uhrhammer D, Schultz FA.
PMID: 15530089
Inorg Chem. 2004 Nov 15;43(23):7389-95. doi: 10.1021/ic040082i.

Temperature-dependent measurements of potential, E degrees', and electron-transfer rate constant, k(s,h), are reported for electrochemical reduction (in 0.3 M TBAPF(6)/CH(3)CN) of a series of oxomolybdenum(V) complexes, [(Tp)MoO(X,Y)], where Tp = hydrotris(3,5-dimethyl-1-pyrazolyl)borate and X,Y is a series of bidentate 1,2-disubstituted...

Showing 1 to 12 of 14 entries