A Maddalena

The fragile X premutation in carriers and its effect on mutation size in offspring.

Gene S. Fisch, K. Snow, Stephen N. Thibodeau et al. · PubMed · 1995 · 69 citations

Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences

Gene Levinson, R. Fields, G. Harton et al. · Human Reproduction · 1992 · 62 citations

Genetic Testing, Fertility, Human Preimplantation Embryos +23

Anti-phosphocholine hybridoma antibodies. I. Direct evidence for three distinct families of antibodies in the murine response

J L Claflin, S Hudak, A Maddalena · The Journal of Experimental Medicine · 1981 · 59 citations · Full text

Immunocytochemical Technique, Immunology, Pathology +18

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

A Maddalena, J. Edward Spence, W E O'Brien et al. · Journal of Clinical Investigation · 1988 · 56 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16

Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

Kathryn J. Reissner, Nahid Tayebi, Barbara Stubblefield et al. · Molecular Genetics and Metabolism · 1998 · 42 citations

Biology, Mendelian Disorder, Gaucher Disease +11