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TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

European journal of human genetics : EJHG, 2010-08, Vol.18 (8), p.948-952

2010

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Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients

Human mutation, 2013-03, Vol.34 (3), p.453-461

2013

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Estimating cancer risk in HNPCC by the GRL method

European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.831-836

2007

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Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.173-179

2011

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Parent-of-origin effect in transthyretin related amyloid polyneuropathy

Amyloid, 2009, Vol.16 (3), p.149-150

2009

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Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients

International journal of cancer, 2006-10, Vol.119 (7), p.1732-1735

2006

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Ethics and observational studies in medical research: various rules in a common framework

International journal of epidemiology, 2009-08, Vol.38 (4), p.1104-1108

2009

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On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors

European journal of human genetics : EJHG, 2010-01, Vol.18 (1), p.88-94

2010

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Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset

Genetic epidemiology, 2004-09, Vol.27 (2), p.109-117

2004

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Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

The journal of clinical endocrinology and metabolism, 2001-05, Vol.86 (5), p.2009-2014

2001

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Estimating cancer risks from a retrospective cohort of patients with MMR gene mutations

Journal of clinical oncology, 2013-06, Vol.31 (17), p.2229-2230

2013

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A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening

Journal of medical genetics, 2014-02, Vol.51 (2), p.114-121

2014

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Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

Human molecular genetics, 2006-02, Vol.15 (3), p.443-451

2006

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Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

Amyloid, 2008-01, Vol.15 (3), p.181-186

2008

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Colonoscopic Screening of First-Degree Relatives of Patients With Large Adenomas: Increased Risk of Colorectal Tumors

Gastroenterology (New York, N.Y. 1943), 2007-10, Vol.133 (4), p.1086-1092

2007

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A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition

Bulletin du cancer, 2011-07, Vol.98 (7), p.779-95

2011

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Radiation and genetic factors in the risk of second malignant neoplasms after a first cancer in childhood

The Lancet (British edition), 1997-07, Vol.350 (9071), p.91-95

1997

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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Journal of clinical oncology, 2015-07, Vol.33 (21), p.2345-2352

2015

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ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data

Genetic epidemiology, 1995, Vol.12 (1), p.13-25

1995

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Genetic epidemiology of neuroblastoma: A study of 426 cases at the Institut Gustave-Roussy in France

Pediatric Blood & Cancer, 2004-01, Vol.42 (1), p.99-105

2004

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Nouveau système de score pour le diagnostic des prédispositions aux cancers du sein et de l’ovaire associées à BRCA1/2

Bulletin du cancer, 2011-07, Vol.98 (7), p.779-795

2011

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Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome

JAMA : the journal of the American Medical Association, 2011-06, Vol.305 (22), p.2304

2011

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A second locus for Marfan syndrome maps to chromosome 3p24.2-p25

Nature genetics, 1994-11, Vol.8 (3), p.264-268

1994

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Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism

The journal of clinical endocrinology and metabolism, 2002-02, Vol.87 (2), p.575-580

2002

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TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients

Estimating cancer risk in HNPCC by the GRL method

Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method

Parent-of-origin effect in transthyretin related amyloid polyneuropathy

Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients

Ethics and observational studies in medical research: various rules in a common framework

On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors

Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset

Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

Estimating cancer risks from a retrospective cohort of patients with MMR gene mutations

A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening

Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

Colonoscopic Screening of First-Degree Relatives of Patients With Large Adenomas: Increased Risk of Colorectal Tumors

A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition

Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors

Radiation and genetic factors in the risk of second malignant neoplasms after a first cancer in childhood

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data

Genetic epidemiology of neuroblastoma: A study of 426 cases at the Institut Gustave-Roussy in France

Nouveau système de score pour le diagnostic des prédispositions aux cancers du sein et de l’ovaire associées à BRCA1/2

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25

Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism

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