Maria Rita Passos‐Bueno

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 679 citations

Spermatogenesis, Developmental Biology, Genetic Disorder +10

Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene

Vincenzo Nigro, Eloisa De Sá Moreira, Giulio Piluso et al. · Nature Genetics · 1996 · 421 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Eloísa S. Moreira, Tim Wiltshire, Georgine Faulkner et al. · Nature Genetics · 2000 · 333 citations

Skeletal Muscle, Genetic Disorder, Genetics +3

Clinical spectrum of fibroblast growth factor receptor mutations

Maria Rita Passos‐Bueno, William R. Wilcox, Ethylin Wang Jabs et al. · Human Mutation · 1999 · 295 citations

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Michel Satya Naslavsky, Guilherme Lopes Yamamoto, Tatiana Ferreira de Almeida et al. · Human Mutation · 2017 · 280 citations

Elderly Individuals, Aging, Genetics +18