A. Laugé

发表

No evidence for germline PTEN mutations in families with breast and brain tumours

C. Lefebvre, P. Laurent-Puig, C. Eng, 1999, International journal of cancer.

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy

D. Stoppa-Lyonnet, J. Viovy, L. Paglia, 2009, Breast Cancer Research and Treatment.

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

A. Vincent-Salomon, G. Chenevix-Trench, I. Bièche, 2018, Breast Cancer Research.

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

D. Stoppa-Lyonnet, N. Janin, N. Andrieu, 2005, British Journal of Cancer.

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

K. Dahan, D. Stoppa-Lyonnet, B. Gilbert-Dussardier, 2017, Carcinogenesis.

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

M. Stern, D. Stoppa-Lyonnet, C. Houdayer, 2016, Oncogene.

Fertility defects revealing germline biallelic nonsense NBN mutations

D. Stoppa-Lyonnet, S. Christin‐Maitre, M. Portnoï, 2009, Human mutation.

Three new BLM gene mutations associated with Bloom syndrome.

D. Stoppa-Lyonnet, A. Barakat, J. Couturier, 2008, Genetic testing.

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

F. Révillion, Chloé-Agathe Azencott, N. Sevenet, 2020, BMC Medical Research Methodology.

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

D. Stoppa-Lyonnet, C. Houdayer, J. Tarabeux, 2016, European Journal of Human Genetics.

Chromosomal instability in two siblings with gonad deficiency: case report.

D. Stoppa-Lyonnet, J. Pons, J. Lespinasse, 2005, Human reproduction.

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

A. Vincent-Salomon, G. Chenevix-Trench, I. Bièche, 2018, Breast Cancer Research.

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

W. Meissner, D. Stoppa-Lyonnet, F. Tison, 2013, Movement disorders : official journal of the Movement Disorder Society.

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

M. Stern, D. Stoppa-Lyonnet, V. Jacquemin, 2011, European Journal of Human Genetics.

Immune deficiencies , infection , and systemic immune disorders Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

A. Fischer, C. Picard, M. Koenig, 2011 .

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

A. Nicolas, M. Stern, D. Stoppa-Lyonnet, 2017, European Journal of Human Genetics.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

W. Chung, T. Fehm, T. Rebbeck, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Ataxia-Telangiectasia genes and breast cancer risk in a French family study

D. Stoppa-Lyonnet, N. Janin, N. Andrieu, 2005, Journal of Dairy Research.

Variation in breast cancer risk of heterozygotes for ataxia‐telangiectasia according to environmental factors

D. Stoppa-Lyonnet, N. Janin, B. Geoffroy‐Perez, 2002, International journal of cancer.

Cancer risk in heterozygotes for ataxia‐telangiectasia

A. Aurias, C. Griscelli, D. Stoppa-Lyonnet, 2001, International journal of cancer.

Functional consequences of ATM sequence variants for chromosomal radiosensitivity

T. Dörk, M. Bremer, D. Stoppa-Lyonnet, 2004, Genes, chromosomes & cancer.

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

A. Aurias, C. Griscelli, D. Stoppa-Lyonnet, 1999, British Journal of Cancer.

Evaluation of in silico splice tools for decision‐making in molecular diagnosis

Dominique Stoppa-Lyonnet, Laurent Castera, D. Stoppa-Lyonnet, 2008, Human mutation.

Polyarteritis riodosa and parvovirus B19

L. Guillevin, F. Morinet, P. Dény, 1994, The Lancet.

Chromosomal DNA and p53 Stability, Ubiquitin System and Apoptosis in B-CLL Lymphocytes

L. Sabatier, D. Stoppa-Lyonnet, H. Magdelenat, 2001, Leukemia & lymphoma.

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2004, Human mutation.

Pros and cons of HaloPlex enrichment in cancer predisposition genetic diagnosis

N. Servant, D. Stoppa-Lyonnet, C. Houdayer, 2015, AIMS Genetics.

No germline ATM mutation in a series of 16T-cell prolymphocytic leukemias.

F. Sigaux, M. Stern, D. Stoppa-Lyonnet, 2000, Blood.

Pregnancy after preimplantation genetic diagnosis for Ataxia Telangiectasia.

A. Hellani, S. Coskun, P. Ozand, 2002, Molecular human reproduction.

Cancer risk according to type and location of ATM mutation in ataxia‐telangiectasia families

D. Stoppa-Lyonnet, N. Janin, J. Hall, 2005, Genes, chromosomes & cancer.

Inactivation of the ATM gene in T-cell prolymphocytic leukemias.

F. Sigaux, J. Soulier, M. Stern, 1998, Blood.

Establishment and characterisation of a new breast cancer xenograft obtained from a woman carrying a germline BRCA2 mutation

A. Ashworth, A. Vincent-Salomon, D. Stoppa-Lyonnet, 2010, British Journal of Cancer.

Multiple molecular mechanisms contribute to radiation sensitivity in mantle cell lymphoma

J. Bourhis, D. Stoppa-Lyonnet, A. Bernheim, 2003, Oncogene.

EMMA, a cost‐ and time‐effective diagnostic method for simultaneous detection of point mutations and large‐scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

D. Stoppa-Lyonnet, C. Houdayer, J. Viovy, 2011, Human mutation.

Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers

D. Stoppa-Lyonnet, J. Hall, N. Moullan, 2004, British Journal of Cancer.

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2004, Nucleic acids research.

Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation

D. Stoppa-Lyonnet, J. Couturier, N. Moullan, 2003, Human mutation.

germline mutations in women with familial breast cancer and a relative with haematological malignancy

J. Viovy, L. Paglia, J. Weber, 2023 .

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

A. Nicolas, D. Stoppa-Lyonnet, C. Houdayer, 2017, European Journal of Human Genetics.

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

N. Mahlaoui, J. Pedespan, B. Neven, 2011, The Journal of allergy and clinical immunology.