Razi Khaja, Jeffrey R Macdonald, Ken Lau, Lap-chee Tsui, Stephen W Scherer
Background: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human...
Cheung, Joseph, Estivill, Xavier, Khaja, Razi, MacDonald, Jeffrey R, Lau, Ken, Tsui, Lap-Chee, ...
Abstract Background Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the...
On Human Chromosome, Lucy R. Osborne, Jo-anne Herbrick, Lap-chee Tsui, Stephen W. Scherer
rious mapping methodologies to suggesting that these genes may occur in clusters. Si- determine the precise location of the human PMS2L multaneously, Nicolaides et al. (19) used a similar ap- genes...
Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients (2001)
Onay, Tuncer., Zielenski, Julian., Topaloglu, Ozlem., Gokgoz, Nalan., Kayserili, Hulya., Apak, Memnune Yuksel., ...
Human Biology - Volume 73, Number 2, April 2001
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer (1990)
Drumm, Mitchell L., Pope, Heidi A., Cliff, William H., Rommens, Johanna M., Marvin, Sheila A., Tsui, Lap-Chee, ...
We have used retrovirus-mediated gene transfer to demonstrate complementation of the cystic fibrosis (CF) defect in vitro. Amphotropic retroviruses were used to transduce a functional cystic fibrosis...
Thesis (Ph. D.)--University of Pittsburgh, 1979.
Thesis (Ph. D.)--University of Pittsburgh, 1979.
Thesis (M. Ph.)--Chinese University of Hong Kong.
Mishmar, Dan, Rahat, Ayelet, Scherer, Stephen W., Nyakatura, Gerald, Hinzmann, Bernd, Kohwi, Yoshinori, ...
Common fragile sites are chromosomal loci prone to breakage and rearrangement, hypothesized to provide targets for foreign DNA integration. We cloned a simian virus 40 integration site and showed by...
Wilson, Michael D., Riemer, Cathy, Martindale, Duane W., Schnupf, Pamela, Boright, Andrew P., Cheung, Tony L., ...
Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a...
Hellman, Asaf, Rahat, Ayelet, Scherer, Stephen W., Darvasi, Ariel, Tsui, Lap-Chee, Kerem, Batsheva
Common fragile sites are specific chromosomal loci that show gaps, breaks, or rearrangements in metaphase chromosomes under conditions that interfere with DNA replication. The mechanism underlying...
Cheung, Joseph, Estivill, Xavier, Khaja, Razi, MacDonald, Jeffrey R, Lau, Ken, Tsui, Lap-Chee, ...
Rapid computational heuristics have been developed based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome...
Glöckner, Gernot, Scherer, Stephen, Schattevoy, Ruben, Boright, Andrew, Weber, Jacqueline, Tsui, Lap-Chee, ...
We have sequenced and annotated two genomic regions located in the Giemsa negative band q22 of human chromosome 7. The first region defined by the erythropoietin (EPO) locus is 228 kb in length and...
Sinasac, David S., Moriyama, Mitsuaki, Jalil, M. Abdul, Begum, Laila, Li, Meng Xian, Iijima, Mikio, ...
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of...
Hamosh, Ada, King, Terri M., Rosenstein, Beryl J., Corey, Mary, Levison, Henry, Durie, Peter, ...
The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third...
Rozen, Rima, Schwartz, Robert H., Hilman, Bettina C., Stanislovitis, Pat, Horn, Glenn T., Klinger, Katherine, ...
A 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry:...
Mishmar, Dan, Rahat, Ayelet, Scherer, Stephen W., Nyakatura, Gerald, Hinzmann, Bernd, Kohwi, Yoshinori, ...
Common fragile sites are chromosomal loci prone to breakage and rearrangement, hypothesized to provide targets for foreign DNA integration. We cloned a simian virus 40 integration site and showed by...
Wilson, Michael D., Riemer, Cathy, Martindale, Duane W., Schnupf, Pamela, Boright, Andrew P., Cheung, Tony L., ...
Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a...
Hellman, Asaf, Rahat, Ayelet, Scherer, Stephen W., Darvasi, Ariel, Tsui, Lap-Chee, Kerem, Batsheva
Common fragile sites are specific chromosomal loci that show gaps, breaks, or rearrangements in metaphase chromosomes under conditions that interfere with DNA replication. The mechanism underlying...
Cheung, Joseph, Estivill, Xavier, Khaja, Razi, MacDonald, Jeffrey R, Lau, Ken, Tsui, Lap-Chee, ...
Rapid computational heuristics have been developed based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome...
Glöckner, Gernot, Scherer, Stephen, Schattevoy, Ruben, Boright, Andrew, Weber, Jacqueline, Tsui, Lap-Chee, ...
We have sequenced and annotated two genomic regions located in the Giemsa negative band q22 of human chromosome 7. The first region defined by the erythropoietin (EPO) locus is 228 kb in length and...
Sinasac, David S., Moriyama, Mitsuaki, Jalil, M. Abdul, Begum, Laila, Li, Meng Xian, Iijima, Mikio, ...
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of...
Hamosh, Ada, King, Terri M., Rosenstein, Beryl J., Corey, Mary, Levison, Henry, Durie, Peter, ...
The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third...
Rozen, Rima, Schwartz, Robert H., Hilman, Bettina C., Stanislovitis, Pat, Horn, Glenn T., Klinger, Katherine, ...
A 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry:...
Rommens, Johanna M., Zengerling, Stefanie, Burns, Julie, Melmer, Georg, Kerem, Bat-sheva, Plavsic, Natasa, ...
To facilitate mapping of the cystic fibrosis locus (CF) and to isolate the corresponding gene, we have screened a flow-sorted chromosome 7–specific library for additional DNA markers in the...
Evans, James P., Palmer, Susan, Scherer, Stephen W., Kukolich, Mary, Wijsman, Ellen M., Tsui, Lap-Chee, ...
Fine mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q21.3-q22.1
Scherer, Stephen W., Poorkaj, Parvoneh, Allen, Todd, Kim, Julia, Geshuri, Dorrit, Nunes, Mark, ...
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of...
Complex two-gene modulation of lung disease severity in children with cystic fibrosis
Dorfman, Ruslan, Sandford, Andrew, Taylor, Chelsea, Huang, Baisong, Frangolias, Daisy, Wang, Yongqian, ...
Although cystic fibrosis (CF) is a monogenic disease, its clinical manifestations are influenced in a complex manner. Severity of lung disease, the main cause of mortality among CF patients, is...
Linsdell, Paul, Tabcharani, Joseph A., Rommens, Johanna M., Hou, Yue-Xian, Chang, Xiu-Bao, Tsui, Lap-Chee, ...
Permeability of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel to polyatomic anions of known dimensions was studied in stably transfected Chinese hamster ovary cells...