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

Gene S. Fisch, K. Snow, Stephen N. Thibodeau, +5

PubMed

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

Gene Levinson, R. Fields, G. Harton, +4

Human Reproduction

Genetic TestingFertilityHuman Preimplantation EmbryosGeneticsReproductive Health +21

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

Immunocytochemical TechniqueImmunologyPathologyImmunophenotypingBioanalysis +16

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, +1

Journal of Clinical Investigation

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationEpigenetics +14

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, +8

Molecular Genetics and Metabolism

BiologyMendelian DisorderGaucher DiseaseGenetic DisorderGenetics +9

Anti-phosphocholine hybridoma antibodies. II. Functional analysis of binding sites within three antibody families.

Catherine M. Andres, A Maddalena, S Hudak, +2

The Journal of Experimental Medicine

MedicineImmunologyHematologyPathologyImmunodominance +13

Molecular analysis of the rhd genotype in fetuses at risk for rhd hemolytic disease

W. Christine Spence, A Maddalena, Daniel B. Demers, +1

Obstetrics and Gynecology

Genetic TestingGeneticsGenetic EpidemiologyDiagnosisPathology +20

Antigen-specific anti-phosphocholine antibodies: binding site studies.

J L Claflin, S Hudak, A Maddalena, +1

The Journal of Immunology

AllergyAntigen Selection MechanismsAntigen SelectionPathogenesisImmunology +10

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses

Stephanie L. Sherman, A Maddalena, Patricia N. Howard‐Peebles, +28

American Journal of Medical Genetics

FertilityGeneticsProspective SampleGenetic EpidemiologyGynecology +20

DNA-based prenatal determination of the RhEe genotype

W CHRISTINESPENCE, Paul S. Potter, A Maddalena, +2

Obstetrics and Gynecology