Fernando Regla Vargas

Use of Misoprostol during Pregnancy and Möbius' Syndrome in Infants

Anne Pastuszak, Lavínia Schüler‐Faccini, C. E. Speck-Martins et al. · New England Journal of Medicine · 1998 · 275 citations · Full text

The mutation spectrum in RECQL4 diseases

H. Annika Siitonen, Jenni Sotkasiira, Martine Biervliet et al. · European Journal of Human Genetics · 2008 · 230 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

Maria Isabel Achatz, Magali Olivier, Florence Le Calvez‐Kelm et al. · Cancer Letters · 2006 · 210 citations

Tp53 Mutation, Mendelian Disorder, Genetic Disorder +7

Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy

Claudette Hajaj Gonzalez, Fernando Regla Vargas, Ana Beatriz Alvarez Pérez et al. · American Journal of Medical Genetics · 1993 · 188 citations

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Human Molecular Genetics · 1997 · 169 citations · Full text

Knockout Mouse, Cholesterol Modification, Developmental Biology +12