Results 1 to 11 of 11
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TypeTitleAuthor(s)YearViews
Characterization of the segmental duplication LCR7-20 in the human genome
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Liu, X; Li, X; Li, M; Acimovic, YJ; Li, Z; Scherer, SW; Estivill, X; Tsui, LC2004995
 
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Journal:
Genome biology
Publisher:
BioMed Central Ltd.
Cheung, J; Estivill, X; Khaja, R; MacDonald, JR; Lau, K; Tsui, LC; Scherer, SW2003345
 
Human chromosome 7: DNA sequence and biology
Journal:
Science
Publisher:
American Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; ParkerKatiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HHQ; Pelicci, PG; LoCoco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GAP; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJT; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC2003760
 
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Estivill, X; Cheung, J; Pujana, MA; Nakabayashi, K; Scherer, SW; Tsui, LC2002493
 
Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland | Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce.
Journal:
Medycyna wieku rozwojowego
Publisher:
Instytut Matki i Dziecka.
Aznarez, I; Bal, J; Casals, T; Estivill, X; Moral, N; Sands, D; Nunes, V; SobczyńskaTomaszewska, A; Tsui, LC; Zielenski, J2000417
 
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Dörk, T; Macek Jr, M; Mekus, F; Tümmler, B; Tzountzouris, J; Casals, T; Krebsová, A; Koudová, M; Sakmaryová, I; Macek Sr, M; Vávrová, V; Zemková, D; Ginter, E; Petrova, NV; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zékanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, HH; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadási, L; RavnikGlavač, M; Glavač, D; Komel, R; Vouk, K; Kučinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, GD; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, Z; Friedman, KJ; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Férec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, PF; Sangiuolo, F; Jordanova, A; Kusic, J; Radojkovič, D; Sertić, J; Richter, D; Rukavina, AS; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, LC; Zielenski, J2000590
 
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 [3]
Journal:
Nature Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Zielenski, J; Corey, M; Rozmahel, R; Markiewicz, D; Aznarez, I; Casals, T; Larriba, S; Mercier, B; Cutting, GR; Krebsova, A; Macek M, Jr; Langfelder Schwind, E; Marshall, BC; DecelieGermana, J; Claustres, M; Palacio, A; Bal, J; Nowakowska, A; Ferec, C; Estivill, X; Durie, P; Tsui, LC1999206
 
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Morral, N; Dörk, T; Llevadot, R; Dziadek, V; Mercier, B; Férec, C; Costes, B; Girodon, E; Zielenski, J; Tsui, LC; Tümmler, B; Estivill, X1996471
 
Erratum: Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers (Human Mutation (1996) 8 (149-159))
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Morral, N; Dork, T; Llevadot, R; Dziadek, V; Mercier, B; Ferec, C; Costes, BB; Girodon, E; Zielenski, J; Tsui, LC; Tummler, B; Estivill, X199689
 
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Morral, N; Girbau, E; Zielenski, J; Nunes, V; Casals, T; Tsui, LC; Estivill, X1992305
 
Linkage of DNA probe B79a (D7S13) to cystic fibrosis
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Wainwright, BJ; Tsui, LC; Leppert, M; Buchwald, M; Estivill, X; O'Connell, P; Lathrop, M; LaLouel, JM; White, R; Williamson, R; Farrall, M1987302
 
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