A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe

N. Abbas, C.B. Lücking, Sylvain Ricard, +19

Human Molecular Genetics

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

Ken McElreavey, Éric Vilain, N. Abbas, +2

Proceedings of the National Academy of Sciences

SpermatogenesisFertilityGeneticsSry GeneReproductive Biology +17

Genetic evidence that ZFY is not the testis-determining factor

Mark S. Palmer, Andrew Sinclair, Philippe Berta, +4

Nature

Genetic AnalysisGenetic TestingDevelopmental BiologyGeneticsMolecular Genetics +2

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

Alexandra Dürr, Olivier Didierjean, G. Imbert, +20

Human Molecular Genetics

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

Kenneth McElreavy, Éric Vilain, N. Abbas, +7

Proceedings of the National Academy of Sciences

SpermatogenesisCytogeneticsHuman Sex DeterminationGeneticsGenomic Mechanism +24

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences

C. Boucekkine, Jean‐Edmond Toublanc, N. Abbas, +8

Clinical Endocrinology

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

N. Abbas, Giovanni Stévanin, Alexandra Dürr, +6

PubMed

A possible common origin of ?Y-negative? human XX males and XX true hermaphrodites

N. Abbas, Jean‐Edmond Toublanc, C. Boucekkine, +4

Human Genetics

GeneticsEvolutionary BiologyHuman Xx MalesSex DifferencesPossible Common Origin +8

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

Gilles David, Paola Giunti, N. Abbas, +11

PubMed

Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes

A. TC‐RRONI, Ornella Semino, Rosaria Scozzari, +5

Annals of Human Genetics

Genetic TestingGeneticsGenetic EpidemiologyHuman PopulationsHuman Polymorphism +14