Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel von Berlin, Beth M, Norton, Mary E, Sugarman, Elaine A, Tsipis, Judith E, Allitto, Bernice A

Volltext

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy von BRUZUSTOWICZ, L. M, ALLITTO, B. A, GILLIAM, T. C, HANDELIN, B. L, MATSEOANE, D, THEVE, R, MICHAUD, L, CHATKUPT, S, SUGARMAN, E, PENCHASZADEH, G. K, SUSLAK, L, KOENIGSBERGER, M. R

Volltext

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel von Heim, Ruth A, Sugarman, Elaine A, Allitto, Bernice A

Volltext

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene von BATES, G. P, MACDONALD, M. E, LEHRACH, H, BAXENDALE, S, SEDLACEK, Z, YOUNGMAN, S, ROMANO, D, WHALEY, W. L, ALLITTO, B. A, POUSTKA, A, GUSELLA, J. F

Volltext

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation von Bućan, M., Zimmer, M., Whaley, W.L., Poustka, A., Youngman, S., Allitto, B.A., Ormondroyd, E., Smith, B., Pohl, T.M., MacDonald, M., Bates, G.P., Richards, J., Volinia, S., Gilliam, T.C., Sedlacek, Z., Collins, F.S., Wasmuth, J.J., Shaw, D.J., Gusella, J.F., Frischauf, A-M., Lehrach, H.

Volltext

Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF) mutations delta F508 and 2183AA-->G von Rush, P W, Vats, S, Allitto, B A, Qureshi, F, Feldman, G L

Volltext

Increased recombination adjacent to the Huntington disease-linked D4S10 marker von Allitto, Bernice A., MacDonald, Marcy E., Bucan, Maja, Richards, Julia, Romano, Donna, Whaley, W.Lance, Falcone, Barbara, Ianazzi, James, Wexler, Nancy S., Wasmuth, John J., Collins, Francis S., Lehrach, Hans, Haines, Jonathan L., Gusella, James F.

Volltext

A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's Disease von Gilliam, T. Conrad, Bucan, Maja, MacDonald, Marcy E., Zimmer, Michael, Haines, Jonathan L., Cheng, Shirley V., Pohl, Thomas M., Meyers, Richard H., Whaley, William L., Allitto, Bernice A., Faryniarz, Anne, Wasmuth, John J., Frischauf, Anna-Maria, Conneally, P. Michael, Lehrach, Hans, Gusella, James F.

Volltext

Detection by PCR of the VNTR polymorphism at D4S95 von ALLITTO, B. A, HORN, G. T, ALTHEN, M. R, RICHARDS, B, MCCLATCHEY, A. I, WASMUTH, J. J, GUSELLA, J. F

Volltext

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4 von Allitto, B.A., McClatchey, A.I., Barnes, G., Altherr, M., Wasmuth, J., Frischauf, A.M., MacDonald, M.E., Gusella, J.

Volltext

CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations von Sugarman, Elaine A., Rohlfs, Elizabeth M., Silverman, Lawrence M., Allitto, Bernice A.

Volltext

Recombination events suggest potential sites for the Huntington's disease gene von MacDonald, Marcy E., Haines, Jonathan L., Zimmer, Michael, Cheng, Shirley V., Youngman, Sandra, Whaley, W.Lance, Wexler, Nancy, Bucan, Maja, Allitto, Bernice A., Smith, Barbara, Leavitt, Julie, Poustka, Annemarie, Harper, Peter, Lehrach, Hans, Wasmuth, John J., Frischauf, Anna-Marie, Gusella, James F.

Volltext

Quantitation of immunoglobulins in the effusions of human ovarian epithelial neoplasms von Kutteh, William H., Gall, Stanley A., Doellgast, George J., Allitto, Bernice A., Dawson, Jeffrey R.

Volltext

Detection of mutations in the EGFR tyrosine kinase domain by DNA sequencing von Da Silva, M., Flynn, K. E., Choppa, P., Zhou, Z., Bell, D. W., Iafrate, A. J., Paler, R. J., Allitto, B. A., Rohlfs, E. M.

Volltext

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis von Rohlfs, Elizabeth M., Zhou, Zhaoqing, Sugarman, Elaine A., Heim, Ruth A., Pace, Rhonda G., Knowles, Michael R., Silverman, Lawrence M., Allitto, Bernice A.

Volltext

A family of DNA sequences is reproducibly rearranged in the somatic nucleus of Tetrahymena von Allitto, Bernice A., Karrer, Kathleen M.

Volltext

Micronucleus-specific DNA sequences in an amicronucleate mutant of Tetrahymena von Karrer, Kathleen, Stein-Gavens, Susan, Allitto, Bernice A.

Volltext

Commentary on “The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation,” by Brautbar et al von Allitto, Bernice A., Sugarman, Elaine A.

Volltext

A family of DNA sequence is reproducibly rearranged in the somatic nucleus of Tetrahymena von ALLITTO, B. A, KARRER, K. M

Volltext

Differences in SMN1 allele frequencies among ethnic groups within North America von Hendrickson, B C, Donohoe, C, Akmaev, V R, Sugarman, E A, Labrousse, P, Boguslavskiy, L, Flynn, K, Rohlfs, E M, Walker, A, Allitto, B, Sears, C, Scholl, T

Volltext