CMT1X phenotypes represent loss of GJB1 gene function von SHY, M. E, SISKIND, C, SWAN, E. R, KRAJEWSKI, K. M, DOHERTY, T, FUERST, D. R, AINSWORTH, P. J, LEWIS, R. A, SCHERER, S. S, HAHN, A. F

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CpG methylation within the 5' regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site von MANCINI, D. N, RODENHISER, D. I, AINSWORTH, P. J, O'MALLEY, F. P, SINGH, S. M, WEIRONG XING, ARCHER, T. K

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Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation von Feldman, Gerald L., Edmonds, Merrill W., Ainsworth, Peter J., Schuffenecker, Isabelle, Lenoir, Gilbert M., Saxe, Andrew W., Talpos, Gary B., Roberson, Jacquelyn, Petrucelli, Nancie, Jackson, Charles E.

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Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene von AINSWORTH, P. J, BOLTON, C. F, MURPHY, B. C, STUART, J. A, HAHN, A. F

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Diagnostic single strand conformational polymorphism, (SSCP) : a simplified non-radioisotopic method as applied to a tay-sachs B1 variant von AINSWORTH, P. J, SURH, L. C, COULTER-MACKIE, M. B

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Allele-Specific Non-CpG Methylation of the Nf1 Gene during Early Mouse Development von Haines, Thomas R., Rodenhiser, David I., Ainsworth, Peter J.

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Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion von Ainsworth, PJ, Chakraborty, PK, Weksberg, R

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Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Br... von Ozcelik, H, Knight, J A, Glendon, G, Yazici, H, Carson, N, Ainsworth, P J, Taylor, S A M, Feilotter, H, Carter, R F, Boyd, N F, Andrulis, I L

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Pathological findings in the x-linked form of Charcot-Marie-Tooth disease : a morphometric and ultrastructural analysis von HAHN, Angelika F, AINSWORTH, Peter J, BOLTON, Charles F, BILBAO, Juan M, VALLAT, Jean-Michel

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Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene von AINSWORTH, P. J, RODENHISER, D. I, COSTA, M. T

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A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2 von Vanhorne, Judith B, Andrew, Scott D, Harrison, Karen J, Taylor, Sherryl A M, Thomas, Bradley, McDonald, Thomas J, Ainsworth, Peter J, Mulligan, Lois M

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A double mutation in exon 6 of the β-hexosaminidase α subunit in a patient with the B1 variant of Tay-Sachs disease von AINSWORTH, P. J, COULTER-MACKIE, M. B

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Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1 von Ainsworth, PJ, Koscinski, D., Fraser, BP, Stuart, JA

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Clinical and pathological observations in men lacking the gap junction protein connexin 32 von Hahn, Angelika F., Ainsworth, Peter J., Naus, Christian C. G., Mao, Jian, Bolton, Charles F.

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A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39 von Rodenhiser, D I, Jung, J H, Gillett, J M, Hovland, K, Andrews, J, Ainsworth, P J, Coulter-Mackie, M, Singh, S M

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A nongenetic basis of cycle frequency in bipolar disorder : Study of a monozygotic twin pair von SHARMA, V, AINSWORTH, P. J, MCCABE, S. B, PERSAD, E, KUENEMAN, K. M

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Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease von Tan, Charles C., Ainsworth, Peter J., Hahn, Angelika F., MacLeod, Patrick M.

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Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I von Ainsworth, P J, Rodenhiser, D I

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Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease von HAHN, ANGELIKA F., BOLTON, CHARLES F., WHITE, CHRISTOPHER M., BROWN, WILLIAM F., TUUHA, SASCHA E., TAN, CHARLES C., AINSWORTH, PETER J.

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A Nonradioactive Method for the Detection of Single-Strand Conformational Polymorphisms (SSCP) von Ainsworth, Peter J., Rodenhiser, David I.

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