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A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus

Frontiers in genetics, 2019-02, Vol.10, p.38

2019

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An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H

The Israel Medical Association journal, 2014-11, Vol.16 (11), p.683-685

2014

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Molecular basis of haemophilia A

Haemophilia : the official journal of the World Federation of Hemophilia, 2004-10, Vol.10 (s4), p.133-139

2004

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Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study

American journal of human genetics, 1998-06, Vol.62 (6), p.1381-1388

1998

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Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area

Gene, 2008-02, Vol.410 (1), p.129-138

2008

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Cancer risk in Jewish BRCA1 and BRCA2 mutation carriers: Effects of oral contraceptive use and parental origin of mutation

Breast cancer research and treatment, 2011-09, Vol.129 (2), p.557-563

2011

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How DNA lesions are turned into mutations within cells?

Oncogene, 2002-12, Vol.21 (58), p.8957-8966

2002

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Mutational spectrum of the CTNS gene in Italy

European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.503-508

2003

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Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Human mutation, 2007-03, Vol.28 (3), p.265-272

2007

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Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation

Diagnostics (Basel), 2020-01, Vol.10 (2), p.68

2020

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Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More Frequently in Male Germ Cells, but Point Mutations Do Not

American journal of human genetics, 1999-08, Vol.65 (2), p.360-369

1999

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Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families

Clinical genetics, 2003-08, Vol.64 (2), p.153-159

2003

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Celtic Origin of the C282Y Mutation of Hemochromatosis

Blood cells, molecules, & diseases, 1998-12, Vol.24 (4), p.433-438

Lucotte, Gérard

1998

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Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: implications for their origin

Gene, 1998-06, Vol.213 (1), p.169-177

1998

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Contribution to the Description of the β-Thalassemia Spectrum in Tunisia and the Origin of Mutation Diversity

Hemoglobin, 2004-01, Vol.28 (3), p.189-195

2004

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New Insights into the Origin of the Gaucher Disease-Causing Mutation N370S: Extended Haplotype Analysis Using the 5GC3.2, 5470 G/A, and ITG6.2 Polymorphisms

Blood cells, molecules, & diseases, 2001-09, Vol.27 (5), p.950-959

2001

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Mutations arise independently of transcription in non-dividing bacteria

Molecular genetics and genomics : MGG, 2003-07, Vol.269 (4), p.517-525

2003

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Where did COVID-19 come from? Does it matter?

Journal of the College of Community Physicians of Sri Lanka, 2020-11, Vol.26 (5)

2020

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Population Genetics of Factor V Leiden in Europe

Blood cells, molecules, & diseases, 2001-03, Vol.27 (2), p.362-367

2001

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Expert Views on HPV Infection

2018

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Rare β-Thalassemia Mutation in a Turkish Patient: FSC-36/37 (-T)

Human biology, 1997-04, Vol.69 (2), p.263-267

1997

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Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families

Thrombosis and haemostasis, 2000-11, Vol.84 (5), p.833

2000

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Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome

Clinical genetics, 2000-05, Vol.57 (5), p.384-387

2000

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Determination of the single strand origin of Shigella sonnei plasmid pKYM

Biochimica et biophysica acta, 1995-01, Vol.1260 (2), p.183-190

1995

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Comparative studies on the minus origin mutants of Escherichia coli spherical single-stranded DNA phages

Biochimica et biophysica acta, 1995-01, Vol.1260 (2), p.191-199

1995

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