Medical Genetics

Dr. Bernice A. Allitto, PHD

Bernice A. Allitto, PHD practices Medical Genetics. Doctor Bernice A. Allitto, PHD is also a published physician. She has 25 publication published. The most recent publication is: Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF) mutations delta F508 and 2183AA-->G.

Publications

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
Cystic fibrosis carrier testing in an ethnically diverse US population.
Differences in SMN1 allele frequencies among ethnic groups within North America.
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
Standards and guidelines for CFTR mutation testing.
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel.
Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF) mutations delta F508 and 2183AA-->G.
Clinical molecular genetic testing.
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington''s disease region of chromosome 4.
The Huntington''s disease candidate region exhibits many different haplotypes.
Detection by PCR of the VNTR polymorphism at D4S95.
Increased recombination adjacent to the Huntington disease-linked D4S10 marker.
Mapping of cosmid clones in Huntington's disease region of chromosome 4.
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation.
Clustering of multiallele DNA markers near the Huntington''s disease gene.
Recombination events suggest potential sites for the Huntington's disease gene.
A DNA segment encoding two genes very tightly linked to Huntington''s disease.
A family of DNA sequences is reproducibly rearranged in the somatic nucleus of Tetrahymena.
Quantitation of immunoglobulins in the effusions of human ovarian epithelial neoplasms.
Micronucleus-specific DNA sequences in an amicronucleate mutant of Tetrahymena.

Doctors Specialties

Clinical Molecular Genetics
Medical Genetics

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