N. Janin

发表

Circulating anti-p53 antibodies in esophageal cancer patients are found predominantly in individuals with p53 core domain mutations in their tumors.

M. Hollstein, W. Bennett, G. Trivers, 1996, Cancer research.

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma

Jean-Marc Guinebretière, Alain Spatz, G. Lenoir, 2007, Familial Cancer.

Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy

G. Moonen, A. Verloes, N. Janin, 2005, Journal of Neurology.

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.

Current Controversies in Cancer Should Prophylactic Surgery Be Used in Women with a High Risk of Breast Cancer

N. Janin, R. Colomer, Hernhn Cortis-Funes, 1997 .

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.

Prenatal diagnosis of acute lymphoblastic leukaemia

N. Janin, 2000, The Lancet.

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

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

BRCA2 mutations in hereditary breast and ovarian cancer in France.

R. Lidereau, G. Lenoir, S. Mazoyer, 1997, American journal of human genetics.

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

G. Lenoir, A. Bernheim, S. Narod, 1994, Nature Genetics.

Truncation at conserved terminal regions of BRCA1 protein is associated with highly proliferating hereditary breast cancers.

D. Birnbaum, J. Peyrat, D. Stoppa-Lyonnet, 1996, Cancer research.

Should prophylactic surgery be used in women with a high risk of breast cancer?

N. Janin, R. Colomer, J. Klijn, 1997, European journal of cancer.

Primary proliferative T cell response to wild‐type p53 protein in patients with breast cancer

M. Mathieu, V. Lazar, T. Soussi, 1995, European journal of immunology.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

Rapid-onset paraneoplastic cerebellar degeneration successfully treated by radiotherapy and tumorectomy

P. Coucke, N. Janin, Philippe Westerlinck, 2022, International Cancer Conference Journal.

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome

N. Janin, B. Bressac-de Paillerets, O. Cabaret, 2015, Acta Neuropathologica.

Correlation between p53 gene expression and tumor‐cell proliferation in oropharyngeal cancer

G. Wilson, N. Janin, J. Armand, 1994 .

Rapid-onset paraneoplastic cerebellar degeneration successfully treated by radiotherapy and tumorectomy

P. Coucke, N. Janin, Philippe Westerlinck, 2022, International Cancer Conference Journal.

Familial Adhesive Arachnoiditis Associated with Syringomyelia

T. Tegos, N. Janin, L. Collignon, 2014, American Journal of Neuroradiology.

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.

Cancer predisposing missense and protein truncating BARD1 mutations in non‐BRCA1 or BRCA2 breast cancer families

Willy Lissens, Remy Loris, R. Loris, 2010, Human mutation.

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

A. Munnich, N. Janin, H. Dollfus, 1993, Nature Genetics.

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.

A simple model for carcinogenesis of colorectal cancers with microsatellite instability.

N. Janin, 2000, Advances in cancer research.

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.

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

V. Bours, N. Janin, L. Mutesa, 2008, Cancer genetics and cytogenetics.

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

A. Munnich, N. Janin, J. Frézal, 1994, Journal of medical genetics.

New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease Complex genetics in VHL disease and erythrocytosis

R. Redon, K. Schwarz, S. Knight, 2018 .

Analysis of p53 antibodies in patients with various cancers define B-cell epitopes of human p53: distribution on primary structure and exposure on protein surface.

P. Laurent-Puig, J. Peyrat, T. Soussi, 1993, Cancer research.

Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, Li-Fraumeni syndrome and Cowden syndrome

H. Wildiers, M. Berlière, K. Claes, 2015 .

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

A. Spurdle, Å. Borg, P. Devilee, 2017, Journal of Medical Genetics.

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.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

Simple sequence repeat polymorphism within the p53 gene.

V. Lazar, N. Janin, D. Bellet, 1993, Oncogene.

High-dose ifosfamide: circumvention of resistance to standard-dose ifosfamide in advanced soft tissue sarcomas.

A. Cesne, A. Le Cesne, N. Janin, 1995, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Should prophylactic surgery be used in women with a high risk of breast cancer

J. Klijn, N. Janin, 1997 .

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

N. Janin, C. Alonso, O. Díez, 2001, Human mutation.

Deregulated apoptosis in ataxia telangiectasia: association with clinical stigmata and radiosensitivity.

D. Stoppa-Lyonnet, N. Janin, F. Rosselli, 1996, Cancer research.

Analysis of p 53 Antibodies in Patients with Various Cancers Define B-Cell Epitopes of Human p 53 : Distribution on Primary Structure and Exposure on Protein Surface 1

P. Laurent-Puig, J. Peyrat, T. Soussi, 2006 .

Novel SACS mutation in a Belgian family with sacsin-related ataxia

N. Janin, H. Shimazaki, Y. Takiyama, 2008, Journal of the Neurological Sciences.

Correlation between p53 gene expression and tumor-cell proliferation in oropharyngeal cancer.

J. Bourhis, G. Wilson, J. Bosq, 1994, International Journal of Cancer.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

PEPing up preimplantation testing

G. Lenoir, N. Janin, S. Narod, 1994, Nature Genetics.