R Hughes-Benzie

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

R Hughes-Benzie, Giuseppe Pilia, J.Y. Xuan et al. · American Journal of Medical Genetics · 1996 · 136 citations

Life Sciences, Genetics, Molecular Genetics +15

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

G. Stephen Tint, Mary J. Seller, R Hughes-Benzie et al. · Journal of Lipid Research · 1995 · 132 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

Pablo Lapunzina, I Badia, Cristina Galoppo et al. · Journal of Medical Genetics · 1998 · 49 citations · Full text

Medicine, Oncology, Pathology +16

THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL ABNORMALITIES

Takashi Shimizu, Lynn Salvador, R Hughes-Benzie et al. · Prenatal Diagnosis · 1997 · 36 citations

Medicine, Genetics, Obstetrics +17

Simpson—Golabi—Behmel syndrome: Disproportionate fetal overgrowth and elevated maternal serum alpha‐fetoprotein

R Hughes-Benzie, John Tolmie, M. B. McNay et al. · Prenatal Diagnosis · 1994 · 36 citations

Medicine, Genetics, Obstetrics +17