Maria Anvret

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY

Ralf J. Jäger, Maria Anvret, Kerstin Hall et al. · Nature · 1990 · 412 citations

Genetic Testing, Developmental Biology, Human Xy Female +10

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

André Reis, Bärbel Dittrich, Valerie Greger et al. · PubMed · 1994 · 224 citations

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)_n repeat length is the sex of the affected parent

H. Telenius, Hannie Kremer, J. Thellmann et al. · Human Molecular Genetics · 1993 · 208 citations

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

Maria Anvret, Gunnel Ahlberg, Ulla Grandell et al. · Human Molecular Genetics · 1993 · 202 citations