Search Results - "de La Chapelle, A"

Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci by de la Chapelle, A

“…The two alleles of a gene can be expressed at different levels, the extreme example being imprinting, a condition in which one allele is totally suppressed…”
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The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia by Eisfeld, A-K, Mrózek, K, Kohlschmidt, J, Nicolet, D, Orwick, S, Walker, C J, Kroll, K W, Blachly, J S, Carroll, A J, Kolitz, J E, Powell, B L, Wang, E S, Stone, R M, de la Chapelle, A, Byrd, J C, Bloomfield, C D

“…Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease…”
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Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia by Eisfeld, A-K, Kohlschmidt, J, Schwind, S, Nicolet, D, Blachly, J S, Orwick, S, Shah, C, Bainazar, M, Kroll, K W, Walker, C J, Carroll, A J, Powell, B L, Stone, R M, Kolitz, J E, Baer, M R, de la Chapelle, A, Mrózek, K, Byrd, J C, Bloomfield, C D

“…Core-binding factor acute myeloid leukemia (CBF-AML) is defined by the presence of either t(8;21)(q22;q22)/ RUNX1-RUNX1T1 or…”
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Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2 by Eisfeld, A-K, Kohlschmidt, J, Mrózek, K, Blachly, J S, Nicolet, D, Kroll, K, Orwick, S, Carroll, A J, Stone, R M, de la Chapelle, A, Byrd, J C, Bloomfield, C D

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A diagnostic biochip for the comprehensive analysis of MLL translocations in acute leukemia by MAROC, N, MOREL, A, FERT, V, HERMITTE, F, BEILLARD, E, DE LA CHAPELLE, A. L, FUND, X, MOZZICONACCI, M-J, DUPONT, M, CAYUELA, J-M, GABERT, J, KOKI, A

“…Reciprocal rearrangements of the MLL gene are among the most common chromosomal abnormalities in both Acute Lymphoblastic and Myeloid Leukemia. The MLL gene,…”
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No evidence for microsatellite instability in acute myeloid leukemia by Walker, C J, Eisfeld, A-K, Genutis, L K, Bainazar, M, Kohlschmidt, J, Mrózek, K, Carroll, A J, Kolitz, J E, Powell, B L, Wang, E S, Stone, R M, Bundschuh, R, de la Chapelle, A, Bloomfield, C D

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A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome by Clendenning, M, Senter, L, Hampel, H, Robinson, K Lagerstedt, Sun, S, Buchanan, D, Walsh, M D, Nilbert, M, Green, J, Potter, J, Lindblom, A, de la Chapelle, A

“…When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all…”
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MicroRNA-related sequence variations in human cancers by Wojcicka, A., de la Chapelle, A., Jazdzewski, K.

“…MicroRNAs are emerging as a most promising field in basic and translational research, explaining the pathogenesis of numerous human diseases and providing…”
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A Susceptibility Locus for Papillary Thyroid Carcinoma on Chromosome 8q24 by HUILING HE, NAGY, Rebecca, LIYANARACHCHI, Sandya, HONG JIAO, WEI LI, SUSTER, Saul, KERE, Juha, DE LA CHAPELLE, Albert

“…Papillary thyroid carcinoma (PTC) displays higher heritability than most other cancers. To search for genes predisposing to PTC, we performed a genome-wide…”
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The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families by South, Christopher D., Hampel, Heather, Comeras, Ilene, Westman, Judith A., Frankel, Wendy L., de la Chapelle, Albert

“…Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including…”
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Reconstructing hominid Y evolution : X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through line-line recombination by SCHWARTZ, A, CHAN, D. C, BROWN, L. G, ALAGAPPAN, R, PETTAY, D, DISTECHE, C, MCGILLIVRAY, B, DE LA CHAPELLE, A, PAGE, D. C

“…The human X and Y chromosomes share many blocks of similar DNA sequence. We conducted mapping and nucleotide sequencing studies of extensive, multi-megabase…”
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GENETIC TESTING FOR CANCER PREDISPOSITION by Eng, Charis, Hampel, Heather, Chapelle, Albert de la

“…Clinical cancer genetics is becoming an integral part of the care of cancer patients. This review describes the clinical aspects, genetics, and clinical…”
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Genetic susceptibility to non-polyposis colorectal cancer by Lynch, Henry T, de la Chapelle, Albert

“…Familial colorectal cancer (CRC) is a major public health problem by virtue of its relatively high frequency. Some 15-20% of all CRCs are familial. Among…”
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The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease by Woods, M O, Younghusband, H B, Parfrey, P S, Gallinger, S, McLaughlin, J, Dicks, E, Stuckless, S, Pollett, A, Bapat, B, Mrkonjic, M, de la Chapelle, A, Clendenning, M, Thibodeau, S N, Simms, M, Dohey, A, Williams, P, Robb, D, Searle, C, Green, J S, Green, R C

“…Colorectal cancer (CRC) is the second most frequent cancer in developed countries. Newfoundland has the highest incidence of CRC in Canada and the highest rate…”
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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene by Nagy, R, Wang, H, Albrecht, B, Wieczorek, D, Gillessen- Kaesbach, G, Haan, E, Meinecke, P, de la Chapelle, A, Westman, JA

“…Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen‐Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Microcephalic osteodysplastic primordial…”
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Long-range PCR facilitates the identification of PMS2-specific mutations by Clendenning, Mark, Hampel, Heather, LaJeunesse, Jennifer, Lindblom, Annika, Lockman, Jan, Nilbert, Mef, Senter, Leigha, Sotamaa, Kaisa, de la Chapelle, Albert

“…Mutations within the DNA mismatch repair gene, “postmeiotic segregation increased 2” (PMS2), have been associated with a predisposition to hereditary…”
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Disease gene mapping in isolated human populations: the example of Finland by de la Chapelle, A

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Recurrent and founder mutations in the PMS2 gene by Tomsic, J, Senter, L, Liyanarachchi, S, Clendenning, M, Vaughn, C P, Jenkins, M A, Hopper, J L, Young, J, Samowitz, W, de la Chapelle, A

“…Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has…”
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Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene by Maury, C.P.J., Kere, J., Tolvanen, R., de la Chapelle, A.

“…The amyloid protein in Finnish hereditary amyloidosis is a fragment of the actin-filament binding region of a variant gelsolin molecule. Here we demonstrate,…”
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Amnionless (AMN) mutations in Imerslund–Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS by Luder, A. S., Tanner, S. M., de la Chapelle, A., Walter, J. H.

“…Summary Familial selective vitamin B 12 (cobalamin, Cbl) malabsorption (Imerslund–Gräsbeck syndrome, IGS, OMIM 261100) is a group of autosomal recessive…”
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