B. Allitto

发表

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

M. Knowles, R. Heim, L. Silverman, 2002, Genetics in Medicine.

Recombination events suggest potential sites for the Huntington's disease gene

A. Poustka, J. Haines, M. Bucan, 1989, Neuron.

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.

J. Gusella, G. Barnes, M. Altherr, 1992, Molecular and cellular probes.

Erratum: Standards and guidelines for CFTR mutation testing (Genetics in Medicine (2002) 4 (379-391))

W. Grody, M. Watson, C. Richards, 2002 .

Cystic fibrosis carrier testing in an ethnically diverse US population.

R. Heim, N. Nagan, T. Scholl, 2011, Clinical chemistry.

CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

L. Silverman, E. Rohlfs, E. Sugarman, 2004, Genetics in Medicine.

CF patients and in the general population to assess the struc- ture of the panel itself and to evaluate problems in the imple- mentation of carrier screening.

S. Loader, M. Knowles, R. Heim, 2002 .

Micronucleus-specific DNA sequences in an amicronucleate mutant of Tetrahymena.

K. Karrer, S. Stein-Gavens, B. Allitto, 1984, Developmental biology.

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel.

M. Norton, E. Sugarman, B. Allitto, 1999, Obstetrics and gynecology.

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

N. Nagan, T. Scholl, V. Akmaev, 2011, European Journal of Human Genetics.

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

G. Penchaszadeh, L. Michaud, S. Chatkupt, 1994, American journal of human genetics.

Quantitation of immunoglobulins in the effusions of human ovarian epithelial neoplasms.

S. Gall, W. Kutteh, J. Dawson, 1984, American journal of obstetrics and gynecology.

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

M. MacDonald, J. Gusella, S. Baxendale, 1990, American journal of human genetics.

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation.

M. Bucan, M. MacDonald, T. Pohl, 1990, Genomics.

Mapping of cosmid clones in Huntington's disease region of chromosome 4

M. Bucan, M. MacDonald, H. Lehrach, 1991, Somatic cell and molecular genetics.

The Huntington's disease candidate region exhibits many different haplotypes

Hans Lehrach, Francis S. Collins, James F. Gusella, 1992, Nature Genetics.

A DNA segment encoding two genes very tightly linked to Huntington's disease.

J. Haines, M. Bucan, M. MacDonald, 1987, Science.

Differences in SMN1 allele frequencies among ethnic groups within North America

T. Scholl, V. Akmaev, B. Hendrickson, 2009, Journal of Medical Genetics.

Standards and Guidelines for CFTR Mutation Testing

W. Grody, M. Watson, C. Richards, 2002, Genetics in Medicine.

Increased recombination adjacent to the Huntington disease-linked D4S10 marker.

M. Bucan, M. MacDonald, N. Wexler, 1991, Genomics.

Clustering of multiallele DNA markers near the Huntington's disease gene.

J. Haines, M. MacDonald, W. Whaley, 1989, The Journal of clinical investigation.

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

R. Heim, E. Sugarman, B. Allitto, 2001, Genetics in medicine : official journal of the American College of Medical Genetics.

A family of DNA sequences is reproducibly rearranged in the somatic nucleus of Tetrahymena.

K. Karrer, B. Allitto, 1986, Nucleic Acids Research.

Detection by PCR of the VNTR polymorphism at D4S95.

J. Wasmuth, M. Altherr, A. McClatchey, 1991, Nucleic acids research.

Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF mutations ΔF508 and 2183AA→G

G. Feldman, F. Qureshi, B. Allitto, 1998, Prenatal Diagnosis.

Carrier testing for seven diseases common in the Ashkenazi Jewish population: implications for counseling and testing

E. Sugarman, B. Allitto, 2001 .