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Lap-Chee Tsui

Research Profile

Disorders

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Molecular Sequence Data

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Chromosomes, Human, Pair 7

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TOP 3
Lap-Chee Tsui; Ruslan Dorfman
The cystic fibrosis gene: a molecular genetic perspective.
R Dorfman; T Nalpathamkalam; Carol L Freund-Taylor; T Gonska; K Keenan; X W Yuan; M Corey; Lap-Chee Tsui; Julian Zielenski; Peter Roy Durie
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Ruslan Dorfman; Weili Li; Lei Sun; Fan Lin; Yongqian Wang; Andrew Sandford; Peter D Paré; Karen McKay; Hana Kayserova; Tereza Piskackova; Milan Macek; Kamila Czerska; Dorota Sands; Harm Tiddens; Sonia Margarit; Gabriela Repetto; Marci K Sontag; Frank J Accurso; SCOTT BLACKMAN; Garry R Cutting; Lap-Chee Tsui; Mary Corey; Peter Roy Durie; Julian Zielenski; Lisa J Strug
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.

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All Publications

2013: Lap-Chee Tsui; Ruslan Dorfman
The cystic fibrosis gene: a molecular genetic perspective.
Cold Spring Harbor perspectives in medicine 2013;3(2):a009472.
2010: R Dorfman; T Nalpathamkalam; Carol L Freund-Taylor; T Gonska; K Keenan; X W Yuan; M Corey; Lap-Chee Tsui; Julian Zielenski; Peter Roy Durie
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clinical genetics 2010;77(5):464-73.
2009: Ruslan Dorfman; Weili Li; Lei Sun; Fan Lin; Yongqian Wang; Andrew Sandford; Peter D Paré; Karen McKay; Hana Kayserova; Tereza Piskackova; Milan Macek; Kamila Czerska; Dorota Sands; Harm Tiddens; Sonia Margarit; Gabriela Repetto; Marci K Sontag; Frank J Accurso; SCOTT BLACKMAN; Garry R Cutting; Lap-Chee Tsui; Mary Corey; Peter Roy Durie; Julian Zielenski; Lisa J Strug
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.
Human genetics 2009;126(6):763-78.
2009: Muhammad Faiyaz-Ul-Haque; Syed Zaidi; Nouriyah Al-Sanna; Abdulrahman Alswaid; Tariq Momenah; Namik Kaya; Fouad Al Dayel; Issam Bouhoaigah; Mohammed Saliem; Lap-Chee Tsui; Ahmad S Teebi
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
Atherosclerosis 2009;203(2):466-71.
2008: Isabel Aznarez; Yoseph Barash; Ofer Shai; David He; Julian Zielenski; Lap-Chee Tsui; John Parkinson; Brendan J Frey; Johanna M Rommens; Benjamin J Blencowe
A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.
Genome research 2008;18(8):1247-58.
2008: Ruslan Dorfman; Andrew Sandford; Chelsea Taylor; Baisong Huang; Daisy Frangolias; Yongqian Wang; Richard Sang; Lilian Pereira; Lei Sun; Yves Berthiaume; Lap-Chee Tsui; Peter D Paré; Peter Roy Durie; Mary Corey; Julian Zielenski
Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
The Journal of clinical investigation 2008;118(3):1040-9.
2007: Takeyori Saheki; Mikio Iijima; Meng Xian Li; Keiko Kobayashi; Masahisa Horiuchi; Miharu Ushikai; Fumihiko Okumura; Xiao Jian Meng; Ituro Inoue; Atsushi Tajima; Mitsuaki Moriyama; Kazuhiro Eto; Takashi Kadowaki; David S Sinasac; Lap-Chee Tsui; Mihoko Tsuji; Akira Okano; Tsuyoshi Kobayashi
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.
The Journal of biological chemistry 2007;282(34):25041-52.
2007: Muhammad Faiyaz-Ul-Haque; Syed Zaidi; M S Al-Mureikhi; I Peltekova; Lap-Chee Tsui; Ahmad S Teebi
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
Clinical genetics 2007;72(2):164-6.
2007: Isabel Aznarez; Julian Zielenski; Johanna M Rommens; Benjamin J Blencowe; Lap-Chee Tsui
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
Journal of medical genetics 2007;44(5):341-6.
2006: Michael Wilschanski; Annie Dupuis; Lynda Ellis; Keith Jarvi; Julian Zielenski; Elizabeth Tullis; Sheelagh Martin; Mary Corey; Lap-Chee Tsui; Peter Roy Durie
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
American journal of respiratory and critical care medicine 2006;174(7):787-94.
2006: Mitsuaki Moriyama; Meng Xian Li; Keiko Kobayashi; David S Sinasac; Yukiko Kannan; Mikio Iijima; Masahisa Horiuchi; Lap-Chee Tsui; Masashi Tanaka; Yoichi Nakamura; Takeyori Saheki
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.
Journal of hepatology 2006;44(5):930-8.
2005: Michele D Bishop; Steven D Freedman; Julian Zielenski; Najma Ahmed; Annie Dupuis; Sheelagh Martin; Lynda Ellis; Julie Shea; Isobel Hopper; Mary Corey; Paul Kortan; Gregory B Haber; Christine Ross; John Tzountzouris; Leslie Steele; Peter N Ray; Lap-Chee Tsui; Peter Roy Durie
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.
Human genetics 2005;118(3-4):372-81.
2005: Kolja Eppert; Jay S Wunder; Vicky Aneliunas; Lap-Chee Tsui; Stephen W Scherer; Irene L Andrulis
Altered expression and deletion of RMO1 in osteosarcoma.
International journal of cancer. Journal international du cancer 2005;114(5):738-46.
2005: Hong-Qiang Heng; Bradford Windle; Lap-Chee Tsui
High-resolution FISH analysis.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2005;Chapter 4():Unit 4.5.
2005: Syed Zaidi; V Peltekova; S Meyer; Angelika Lindinger; A D Paterson; Lap-Chee Tsui; Muhammad Faiyaz-Ul-Haque; Ahmad S Teebi
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.
Clinical genetics 2005;67(2):183-8.
2005: Muhammad Arshad Rafiq; Muhammad Faiyaz-Ul-Haque; Mohammad Amin Ud Din; Sajid Malik; Muhammad Sohail; Maqsood Anwar; Sayedul Haque; Andrew D Paterson; Lap-Chee Tsui; Wasim Ahmad
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.
The Journal of investigative dermatology 2005;124(2):338-42.
2005: Yao Bang Lu; Keiko Kobayashi; Miharu Ushikai; Ayako Tabata; Mikio Iijima; Meng Xian Li; Lei Lei; Kotaro Kawabe; Satoru Taura; Yanling Yang; Tze-Tze Liu; Szu-Hui Chiang; Kwang-Jen Hsiao; Yu-Lung Lau; Lap-Chee Tsui; Dong Hwan Lee; Takeyori Saheki
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
Journal of human genetics 2005;50(7):338-46.
2005: Muhammad Faiyaz-Ul-Haque; Syed Zaidi; L M King; Sayedul Haque; M Patel; Mahmud Ahmad; Teepu Siddique; Wasim Ahmad; Lap-Chee Tsui; Daniel H Cohn
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.
Clinical genetics 2005;67(1):93-7.
2004: Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Syed Zaidi; S Hussain; Sayedul Haque; Mahmud Ahmad; Daniel H Cohn; Lap-Chee Tsui
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
Clinical genetics 2004;66(2):144-51.
2004: Muhammad Faiyaz-Ul-Haque; Syed Zaidi; Mariam Al-Ali; Mariam S Al-Mureikhi; Shelley Kennedy; Ghalia Al-Thani; Lap-Chee Tsui; Ahmad S Teebi
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
American journal of medical genetics. Part A 2004;128A(1):39-45.
2004: Bryan Lo; Muhammad Faiyaz-Ul-Haque; Brenda L Banwell; Susan Blaser; A D Paterson; Lap-Chee Tsui; Ahmad S Teebi
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.
Clinical genetics 2004;65(2):137-42.
2004: Xiangdong Liu; Xiaobin Li; Martin Li; Yugo J Acimovic; Zhenzhong Li; Stephen W Scherer; Xavier Estivill; Lap-Chee Tsui
Characterization of the segmental duplication LCR7-20 in the human genome.
Genomics 2004;83(2):262-9.
2004: David S Sinasac; Mitsuaki Moriyama; Md Abdul Jalil; Laila Begum; Meng Xian Li; Mikio Iijima; Masahisa Horiuchi; Brian H Robinson; Keiko Kobayashi; Takeyori Saheki; Lap-Chee Tsui
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Molecular and cellular biology 2004;24(2):527-36.
2003: Li Chen; Shiliang Ma; Bo Li; Trine Fink; Vladimir Zachar; Mark Takahashi; Jamie Cuttichia; Lap-Chee Tsui; Peter Ebbesen; Xiangdong Liu
Transcriptional activation of immediate-early gene ETR101 by human T-cell leukaemia virus type I Tax.
The Journal of general virology 2003;84(Pt 12):3203-14.
2003: Isabel Aznarez; Elayne M Chan; Julian Zielenski; Benjamin J Blencowe; Lap-Chee Tsui
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Human molecular genetics 2003;12(16):2031-40.
2003: Bryan Lo; Muhammad Faiyaz-Ul-Haque; Shelley Kennedy; Richard I Aviv; Lap-Chee Tsui; Ahmad S Teebi
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
American journal of medical genetics. Part A 2003;121A(1):37-40.
2003: Lap-Chee Tsui
SARS genome patent: to manage and to share.
Lancet 2003;362(9381):406.
2003: N Ahmed; Mary Corey; GG Forstner; Julian Zielenski; Lap-Chee Tsui; Lynda Ellis; Elizabeth Tullis; Peter Roy Durie
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.
Gut 2003;52(8):1159-64.
2003: Sunil Sheth; Julie C Shea; Michele D Bishop; Sanjiv Chopra; Meredith M Regan; Emily Malmberg; Carolyn Walker; Ryan Ricci; Lap-Chee Tsui; Peter Roy Durie; Julian Zielenski; Steven D Freedman
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.
Human genetics 2003;113(3):286-92.
2003: Xiao-Yan Wen; Robert A Hegele; Jian Wang; Ding-Yan Wang; Joseph Cheung; Michael Wilson; Maryam Yahyapour; Yahong Bai; Lihua Zhuang; Jennifer Skaug; T Kue Young; Philip W Connelly; Ben F Koop; Lap-Chee Tsui; A Keith Stewart
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.
Human molecular genetics 2003;12(10):1131-43.
2003: Melinda P Solomon; David C Wilson; Mary Corey; Daina Kalnins; Julian Zielenski; Lap-Chee Tsui; Paul B Pencharz; Peter Roy Durie; Neil B Sweezey
Glucose intolerance in children with cystic fibrosis.
The Journal of pediatrics 2003;142(2):128-32.
2003: Christina K Haston; Lap-Chee Tsui
Loci of intestinal distress in cystic fibrosis knockout mice.
Physiological genomics 2003;12(2):79-84.
2003: Joseph Cheung; Xavier Estivill; Razi Khaja; Jeffrey R MacDonald; Ken Lau; Lap-Chee Tsui; Stephen W Scherer
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome biology 2003;4(4):R25.
2002: Carol Durno; Mary Corey; Julian Zielenski; Elizabeth Tullis; Lap-Chee Tsui; Peter Roy Durie
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Gastroenterology 2002;123(6):1857-64.
2002: Christina K Haston; Mary Corey; Lap-Chee Tsui
Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2002;13(11):614-8.
2002: Christina K Haston; Colin McKerlie; Susan Newbigging; Mary Corey; Richard Rozmahel; Lap-Chee Tsui
Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2002;13(11):605-13.
2002: Xavier Estivill; Joseph Cheung; Miguel Angel Pujana; Kazuhiko Nakabayashi; Stephen W Scherer; Lap-Chee Tsui
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
Human molecular genetics 2002;11(17):1987-95.
2002: Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Abdul Wahab; Sayedul Haque; anser azim; Syed Zaidi; Ahmad S Teebi; Mahmud Ahmad; Daniel H Cohn; Teepu Siddique; Lap-Chee Tsui
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
American journal of medical genetics 2002;111(1):31-7.
2002: Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Syed Zaidi; Sayedul Haque; Ahmad S Teebi; Mahmud Ahmad; Daniel H Cohn; Lap-Chee Tsui
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Clinical genetics 2002;61(6):454-8.
2002: Yuan-Qing Wu; Bassem A Bejjani; Lap-Chee Tsui; Ariane Mandel; Lucy Osborne; Lisa Shaffer
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.
American journal of medical genetics 2002;109(2):121-4.
2002: Gerardo Luzardo; Isabel Aznarez; Beatriz Crispino; Adriana Mimbacas; Liria Martínez; Rossana Poggio; Julian Zielenski; Lap-Chee Tsui; Horacio Cardoso
Cystic fibrosis in Uruguay.
Genetics and molecular research : GMR 2002;1(1):32-8.
2002: Julian Zielenski; Isabel Aznarez; Tuncer Onay; John Tzounzouris; Danuta Markiewicz; Lap-Chee Tsui
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
Methods in molecular medicine 2002;70():3-19.
2001: Joseph Cheung; Erwin Petek; Kazuhiko Nakabayashi; Lap-Chee Tsui; John B Vincent; Stephen W Scherer
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Genomics 2001;78(1-2):7-11.
2001: Lucy Osborne; M Li; B Pober; David Chitayat; J Bodurtha; Ariane Mandel; Teresa Costa; T Grebe; S Cox; Lap-Chee Tsui; Stephen W Scherer
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Nature genetics 2001;29(3):321-5.
2001: Tuncer Onay; Julian Zielenski; O Topaloglu; N Gokgoz; Hulya Kayserili; Memnune Y Apak; Yildiz Camcioglu; Haluk Cokugras; Necla Akcakaya; Lap-Chee Tsui; Betül Kirdar
Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.
Human biology 2001;73(2):191-203.
2001: Xiao-Yan Wen; A Keith Stewart; Jennifer Skaug; Ellen Wei; Lap-Chee Tsui
Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to chromosome 16 but is distinct from the lpd (lipid defect) locus.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(2):129-32.
2001: Birgitta Strandvik; E Björck; M Fallström; Eva Gronowitz; J Thountzouris; Anders Lindblad; Danuta Markiewicz; Jan Wahlström; Lap-Chee Tsui; Julian Zielenski
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.
Genetic testing 2001;5(3):235-42.
2000: Isabel Aznarez; Jerzy Bal; Teresa Casals; Xavier Estivill; N Moral; Dorota Sands; V Nunes; A Sobczyńska-Tomaszewska; Lap-Chee Tsui; Julian Zielenski
[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].
Medycyna wieku rozwojowego 2000;4(2):149-59.
2000: Lorena Orozco; Rafael Velázquez; Julian Zielenski; Lap-Chee Tsui; M Chávez; JL Lezana; Yolanda Saldaña; E Hernández; Alessandra Carnevale
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
Human genetics 2000;106(3):360-5.
2000: Victor Mak; Julian Zielenski; Lap-Chee Tsui; Peter Roy Durie; Armand Zini; S Martin; T B Longley; Keith Jarvi
Cystic fibrosis gene mutations and infertile men with primary testicular failure.
Human reproduction (Oxford, England) 2000;15(2):436-9.
1999: David S Sinasac; Michael A Crackower; JR Lee; Keiko Kobayashi; Takeyori Saheki; Stephen W Scherer; Lap-Chee Tsui
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.
Genomics 1999;62(2):289-92.
1999: Cathy L Barr; Karen Wigg; Andrew J Pakstis; Roger Kurlan; David L Pauls; Kenneth K Kidd; Lap-Chee Tsui; Paul Sandor
Genome scan for linkage to Gilles de la Tourette syndrome.
American journal of medical genetics 1999;88(4):437-45.
1999: Victor Mak; Julian Zielenski; Lap-Chee Tsui; Peter Roy Durie; Armand Zini; S Martin; T B Longley; Keith Jarvi
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
JAMA : the journal of the American Medical Association 1999;281(23):2217-24.
1999: Keiko Kobayashi; David S Sinasac; Mikio Iijima; A P Boright; Laila Begum; JR Lee; Tomotsugu Yasuda; S Ikeda; Ryuki Hirano; H Terazono; Michael A Crackower; Ikuko Kondo; Lap-Chee Tsui; Stephen W Scherer; Takeyori Saheki
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Nature genetics 1999;22(2):159-63.
1999: Julian Zielenski; Mary Corey; Richard Rozmahel; Danuta Markiewicz; Isabel Aznarez; Teresa Casals; Sara Larriba; B Mercier; Garry R Cutting; Alice Krebsova; Milan Macek Jr.; E Langfelder-Schwind; B C Marshall; Joan Decelie-Germana; M Claustres; AM Palacio; Jerzy Bal; A Nowakowska; C Ferec; Xavier Estivill; Peter Roy Durie; Lap-Chee Tsui
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Nature genetics 1999;22(2):128-9.
1999: Lucy Osborne; T Campbell; A Daradich; Stephen W Scherer; Lap-Chee Tsui
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
Genomics 1999;57(2):279-84.
1999: Michael A Crackower; David S Sinasac; J Xia; Jun Motoyama; M Prochazka; Johanna M Rommens; Stephen W Scherer; Lap-Chee Tsui
Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.
Genomics 1999;55(3):257-67.
1999: Michael A Crackower; David S Sinasac; JR Lee; JA Herbrick; Lap-Chee Tsui; Stephen W Scherer
Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.
Cytogenetics and cell genetics 1999;87(3-4):197-8.
1998: Sean E Egan; JA Herbrick; Lap-Chee Tsui; Brenda Cohen; Grace Flock; BG Beatty; Stephen W Scherer
Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12.
Genomics 1998;54(3):576-7.
1998: Jun Motoyama; Hong-Qiang Heng; Michael A Crackower; Takashi Takabatake; Kazuhito Takeshima; Lap-Chee Tsui; C c Hui
Overlapping and non-overlapping Ptch2 expression with Shh during mouse embryogenesis.
Mechanisms of development 1998;78(1-2):81-4.
1998: Michael A Crackower; Hong-Qiang Heng; Lap-Chee Tsui
Assignment of mouse fibroblast growth factor 10 (Fgf10) gene to the telomeric region of chromosome 13.
Genomics 1998;53(2):247-8.
1998: Keith Jarvi; S McCallum; Julian Zielenski; Peter Roy Durie; Elizabeth Tullis; M Wilchanski; M Margolis; Murray R Asch; B Ginzburg; S Martin; MB Buckspan; Lap-Chee Tsui
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.
Fertility and sterility 1998;70(4):724-8.
1998: Berge A Minassian; JR Lee; Jo-Anne Herbrick; J Huizenga; S Soder; Andrew Mungall; Carl Bruder; R Gardner; Chung Yan Fong; S Carpenter; Laura B Jardim; P Satishchandra; Eva Andermann; O Carter Snead; I Lopes-Cendes; Lap-Chee Tsui; Antonio V Delgado-Escueta; Guy Rouleau; Stephen W Scherer
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Nature genetics 1998;20(2):171-4.
1998: Michael A Crackower; Jun Motoyama; Lap-Chee Tsui
Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse.
Developmental biology 1998;201(1):78-89.
1998: AP Boright; Philip W Connelly; JH Brunt; Stephen W Scherer; Lap-Chee Tsui; Robert A Hegele
Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites.
Atherosclerosis 1998;139(1):131-6.
1998: David C Wilson; Lynda Ellis; Julian Zielenski; Mary Corey; Wan F Ip; Lap-Chee Tsui; Elizabeth Tullis; Michael Knowles; Peter Roy Durie
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements.
The Journal of pediatrics 1998;132(4):596-9.
1998: Tuncer Onay; O Topaloglu; Julian Zielenski; N Gokgoz; Hulya Kayserili; Yildiz Camcioglu; Haluk Cokugras; Necla Akcakaya; Memnune Y Apak; Lap-Chee Tsui; Betül Kirdar
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Human genetics 1998;102(2):224-30.
1997: Carol L Freund-Taylor; Cheryl Y Gregory-Evans; T Furukawa; Mary Papaioannou; J Looser; LA Ploder; James Bellingham; D Ng; Jo-Anne Herbrick; A Duncan; Stephen W Scherer; Lap-Chee Tsui; A Loutradis-Anagnostou; Samuel G Jacobson; C L Cepko; Shomi S Bhattacharya; Roderick R McInnes
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Cell 1997;91(4):543-53.
1997: Richard Rozmahel; Hong-Qiang Heng; AM Duncan; XM Shi; Johanna M Rommens; Lap-Chee Tsui
Amplification of CFTR exon 9 sequences to multiple locations in the human genome.
Genomics 1997;45(3):554-61.
1997: Anan Wang; J Forman-Kay; Y Luo; M Luo; Y H Chow; J Plumb; J D Friesen; Lap-Chee Tsui; Hong-Qiang Heng; J L Woolford; Jim Hu
Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome.
Human molecular genetics 1997;6(12):2117-26.
1997: Victor Mak; Keith Jarvi; Julian Zielenski; Peter Roy Durie; Lap-Chee Tsui
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
Human molecular genetics 1997;6(12):2099-107.
1997: Lucy Osborne; Jo-Anne Herbrick; T Greavette; Hong-Qiang Heng; Lap-Chee Tsui; Stephen W Scherer
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
Genomics 1997;45(2):402-6.
1997: Robert A Hegele; Philip W Connelly; Stephen W Scherer; A J Hanley; S B Harris; Lap-Chee Tsui; B Zinman
Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus.
The Journal of clinical endocrinology and metabolism 1997;82(10):3373-7.
1997: Stephen W Scherer; S Soder; Robert M Duvoisin; J J Huizenga; Lap-Chee Tsui
The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.
Genomics 1997;44(2):232-6.
1997: Michael A Crackower; Hong-Qiang Heng; X Shi; Stephen W Scherer; Lap-Chee Tsui
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(9):704.
1997: Lucy Osborne; S Soder; X M Shi; B Pober; Teresa Costa; Stephen W Scherer; Lap-Chee Tsui
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
American journal of human genetics 1997;61(2):449-52.
1997: B E Snow; Hong-Qiang Heng; XM Shi; Y Zhou; K Du; R Taub; Lap-Chee Tsui; Roderick R McInnes
Expression analysis and chromosomal assignment of the human SFRS5/SRp40 gene.
Genomics 1997;43(2):165-70.
1997: Richard Rozmahel; K Gyömörey; S Plyte; Van Nguyen; Michael Wilschanski; Peter Roy Durie; Christine E Bear; Lap-Chee Tsui
Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA.
Human molecular genetics 1997;6(7):1153-62.
1997: Lap-Chee Tsui; Peter Roy Durie
Genotype and phenotype in cystic fibrosis.
Hospital practice (1995) 1997;32(6):115-8, 123-9, 134, passim.
1997: Wei-Feng Dong; Hong-Qiang Heng; R Lowsky; Y Xu; John F DeCoteau; XM Shi; Lap-Chee Tsui; Mark D Minden
Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.
DNA and cell biology 1997;16(6):671-8.
1997: Cathy L Barr; Karen Wigg; E Zovko; Paul Sandor; Lap-Chee Tsui
Linkage study of the dopamine D5 receptor gene and Gilles de la Tourette syndrome.
American journal of medical genetics 1997;74(1):58-61.
1997: D Cohen; Hong-Qiang Heng; XM Shi; EM McIntosh; Lap-Chee Tsui; Ronald E Pearlman
Assignment of the human dUTPase gene (DUT) to chromosome 15q15-q21. 1 by fluorescence in situ hybridization.
Genomics 1997;40(1):213-5.
1997: Michael A Crackower; Stephen W Scherer; Hong-Qiang Heng; Lap-Chee Tsui
Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(2):159-60.
1997: Lorena Orozco; Julian Zielenski; Danuta Markiewicz; T Villarreal; Lap-Chee Tsui; JL Lezana; Rosa M del angel
Two novel frameshift deletions (1924del7, 2055del9-->A) in the CFTR gene in Mexican cystic fibrosis patients.
Human mutation 1997;10(3):239-40.
1997: Julian Zielenski; P Patrizio; Danuta Markiewicz; R H Asch; Lap-Chee Tsui
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
Human mutation 1997;9(2):183-4.
1997: Rong Mo; A M Freer; DL Zinyk; Michael A Crackower; J Michaud; Hong-Qiang Heng; K W Chik; XM Shi; Lap-Chee Tsui; S H Cheng; Alexandra L Joyner; C c Hui
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
Development (Cambridge, England) 1997;124(1):113-23.
1996: J C Lin; S W Scherer; L Tougas; G Traverso; Lap-Chee Tsui; I L Andrulis; Serge Jothy; Morag Park
Detailed deletion mapping with a refined physical map of 7q31 localizes a putative tumor suppressor gene for breast cancer in the region of MET.
Oncogene 1996;13(9):2001-8.
1996: Erich Roessler; E Belloni; K Gaudenz; Philippe Jay; Philippe Berta; Stephen W Scherer; Lap-Chee Tsui; Maximilian Muenke
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics 1996;14(3):357-60.
1996: E Belloni; Maximilian Muenke; Erich Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; Cynthia Helms; A V Hing; Hong-Qiang Heng; BF Koop; D Martindale; Johanna M Rommens; Lap-Chee Tsui; Stephen W Scherer
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nature genetics 1996;14(3):353-6.
1996: J Rowles; Stephen W Scherer; T Xi; M Majer; D C Nickle; Johanna M Rommens; K M Popov; R A Harris; N L Riebow; J Xia; Lap-Chee Tsui; Clifton Bogardus; Michal Prochazka
Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human.
The Journal of biological chemistry 1996;271(37):22376-82.
1996: Lucy Osborne; D Martindale; Stephen W Scherer; XM Shi; J Huizenga; Hong-Qiang Heng; T Costa; B Pober; L Lew; J Brinkman; Johanna M Rommens; BF Koop; Lap-Chee Tsui
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
Genomics 1996;36(2):328-36.
1996: K Eppert; Stephen W Scherer; Hilmi Ozcelik; R Pirone; PA Hoodless; H Kim; Lap-Chee Tsui; B Bapat; Steven Gallinger; Irene L Andrulis; Gerald Thomsen; Jeffrey L Wrana; Liliana Attisano
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
Cell 1996;86(4):543-52.
1996: Stephen W Scherer; D S Feinstein; L Oliveira; Lap-Chee Tsui; Steven J Pittler
Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1).
Genomics 1996;35(1):241-3.
1996: Cathy L Barr; Karen Wigg; E Zovko; Paul Sandor; Lap-Chee Tsui
No evidence for a major gene effect of the dopamine D4 receptor gene in the susceptibility to Gilles de la Tourette syndrome in five Canadian families.
American journal of medical genetics 1996;67(3):301-5.
1996: Michael A Crackower; Stephen W Scherer; Johanna M Rommens; C C Hui; Parvoneh Poorkaj-Navas; S Soder; J M Cobben; L Hudgins; James P Evans; Lap-Chee Tsui
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Human molecular genetics 1996;5(5):571-9.
1996: E J Johnson; Stephen W Scherer; Lucy Osborne; Lap-Chee Tsui; David Oscier; S Mould; Finbarr E Cotter
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia.
Blood 1996;87(9):3579-86.
1996: Hong-Qiang Heng; John W Chamberlain; XM Shi; Barbara Spyropoulos; Lap-Chee Tsui; Peter B Moens
Regulation of meiotic chromatin loop size by chromosomal position.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(7):2795-800.
1996: HK Wu; Hong-Qiang Heng; David Siderovski; Wei-Feng Dong; Y Okuno; XM Shi; Lap-Chee Tsui; Mark D Minden
Identification of a human LIM-Hox gene, hLH-2, aberrantly expressed in chronic myelogenous leukaemia and located on 9q33-34.1.
Oncogene 1996;12(6):1205-12.
1996: Pia Höglund; S Haila; Stephen W Scherer; Lap-Chee Tsui; Eric Green; J Weissenbach; Christer Holmberg; Albert de La Chapelle; Juha Kere
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.
Genome research 1996;6(3):202-10.
1996: Richard Rozmahel; Michael Wilschanski; A Matin; S Plyte; M Oliver; Wojtek Auerbach; A Moore; J Forstner; Peter Roy Durie; J Nadeau; Christine E Bear; Lap-Chee Tsui
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor.
Nature genetics 1996;12(3):280-7.
1996: Michael Wilschanski; Richard Rozmahel; Satti Beharry; Geraldine Kent; Canhui Li; Lap-Chee Tsui; Peter Roy Durie; Christine E Bear
In vivo measurements of ion transport in long-living CF mice.
Biochemical and biophysical research communications 1996;219(3):753-9.
1996: Arturas Petronis; Hong-Qiang Heng; Y Tatuch; XM Shi; TA Klempan; Lap-Chee Tsui; T Ashizawa; L C Surh; J J Holden; James L Kennedy
Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques.
American journal of medical genetics 1996;67(1):85-91.
1996: Stephen W Scherer; Robert M Duvoisin; R Kuhn; Hong-Qiang Heng; E Belloni; Lap-Chee Tsui
Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.
Genomics 1996;31(2):230-3.
1996: S Malaney; Hong-Qiang Heng; Lap-Chee Tsui; XM Shi; B H Robinson
Localization of the human gene encoding the 13.3-kDa subunit of mitochondrial complex III (UQCRB) to 8q22 by in situ hybridization.
Cytogenetics and cell genetics 1996;73(4):297-9.
1996: XL Zhang; Hong-Qiang Heng; Y Yang; Lap-Chee Tsui; Jane R Parnes; John W Chamberlain
Chromosomal mapping of the second human CD8B gene locus.
Immunogenetics 1996;43(4):220-6.
1995: Michael Wilschanski; Julian Zielenski; Danuta Markiewicz; Lap-Chee Tsui; Mary Corey; H Levison; Peter Roy Durie
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.
The Journal of pediatrics 1995;127(5):705-10.
1995: A Marchese; M Heiber; Tuan V Nguyen; Hong-Qiang Heng; V R Saldivia; Regina Cheng; P M Murphy; Lap-Chee Tsui; X Shi; P Gregor
Cloning and chromosomal mapping of three novel genes, GPR9, GPR10, and GPR14, encoding receptors related to interleukin 8, neuropeptide Y, and somatostatin receptors.
Genomics 1995;29(2):335-44.
1995: HK Wu; Hong-Qiang Heng; XM Shi; Donald R Forsdyke; Lap-Chee Tsui; Tak W Mak; Mark D Minden; David Siderovski
Differential expression of a basic helix-loop-helix phosphoprotein gene, G0S8, in acute leukemia and localization to human chromosome 1q31.
Leukemia 1995;9(8):1291-8.
1995: Brian F O'Dowd; MA Scheideler; Tuan V Nguyen; Regina Cheng; J S Rasmussen; A Marchese; R Zastawny; Hong-Qiang Heng; Lap-Chee Tsui; X Shi
The cloning and chromosomal mapping of two novel human opioid-somatostatin-like receptor genes, GPR7 and GPR8, expressed in discrete areas of the brain.
Genomics 1995;28(1):84-91.
1995: Keith Jarvi; Julian Zielenski; Michael Wilschanski; Peter Roy Durie; MB Buckspan; Elizabeth Tullis; Danuta Markiewicz; Lap-Chee Tsui
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia.
Lancet 1995;345(8964):1578.
1995: Stephen W Scherer; Hong-Qiang Heng; G W Robinson; Kathleen A Mahon; James P Evans; Lap-Chee Tsui
Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(4):310-1.
1995: Julian Zielenski; Danuta Markiewicz; S P Lin; F Y Huang; T L Yang-Feng; Lap-Chee Tsui
Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.
Clinical genetics 1995;47(3):125-32.
1995: Lap-Chee Tsui
The cystic fibrosis transmembrane conductance regulator gene.
American journal of respiratory and critical care medicine 1995;151(3 Pt 2):S47-53.
1995: M Heiber; J M Docherty; G Shah; Tuan V Nguyen; Regina Cheng; Hong-Qiang Heng; A Marchese; Lap-Chee Tsui; X Shi; Susan R George
Isolation of three novel human genes encoding G protein-coupled receptors.
DNA and cell biology 1995;14(1):25-35.
1995: Julian Zielenski; Danuta Markiewicz; H S Chen; K Schappert; A Seller; Peter Roy Durie; Mary Corey; Lap-Chee Tsui
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human mutation 1995;5(1):43-7.
1994: M Tini; Lap-Chee Tsui; Vincent Giguère
Heterodimeric interaction of the retinoic acid and thyroid hormone receptors in transcriptional regulation on the gamma F-crystallin everted retinoic acid response element.
Molecular endocrinology (Baltimore, Md.) 1994;8(11):1494-506.
1994: Hong-Qiang Heng; Lap-Chee Tsui; P B Moens
Organization of heterologous DNA inserts on the mouse meiotic chromosome core.
Chromosoma 1994;103(6):401-7.
1994: A Marchese; J M Docherty; Tuan V Nguyen; M Heiber; Regina Cheng; Hong-Qiang Heng; Lap-Chee Tsui; X Shi; Susan R George; Brian F O'Dowd
Cloning of human genes encoding novel G protein-coupled receptors.
Genomics 1994;23(3):609-18.
1994: Frédéric Becq; Timothy J Jensen; Xiu-Bao Chang; A Savoia; Johanna M Rommens; Lap-Chee Tsui; M Buchwald; John R Riordan; John W Hanrahan
Phosphatase inhibitors activate normal and defective CFTR chloride channels.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(19):9160-4.
1994: Juergen Kunz; Stephen W Scherer; I Klawitz; S Soder; Y Z Du; N Speich; M Kalff-Suske; Hong-Qiang Heng; Lap-Chee Tsui; Karl-Heinz Grzeschik
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.
Genomics 1994;22(2):439-48.
1994: Y L Ing; I W Leung; Hong-Qiang Heng; Lap-Chee Tsui; Norman Lassam
MLK-3: identification of a widely-expressed protein kinase bearing an SH3 domain and a leucine zipper-basic region domain.
Oncogene 1994;9(6):1745-50.
1994: Gen-Sheng Feng; R Shen; Hong-Qiang Heng; Lap-Chee Tsui; Andrius Kazlauskas; Tony Pawson
Receptor-binding, tyrosine phosphorylation and chromosome localization of the mouse SH2-containing phosphotyrosine phosphatase Syp.
Oncogene 1994;9(6):1545-50.
1994: Hong-Qiang Heng; Hua Xiao; XM Shi; Jack Greenblatt; Lap-Chee Tsui
Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome.
Human molecular genetics 1994;3(1):61-4.
1994: Karl-Heinz Grzeschik; Lap-Chee Tsui; Eric Green
Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993.
Cytogenetics and cell genetics 1994;65(1-2):52-73.
1994: Hong-Qiang Heng; XM Shi; Stephen W Scherer; Irene L Andrulis; Lap-Chee Tsui
Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15.
Cytogenetics and cell genetics 1994;66(2):135-8.
1994: Hong-Qiang Heng; Lap-Chee Tsui
FISH detection on DAPI-banded chromosomes.
Methods in molecular biology (Clifton, N.J.) 1994;33():35-49.
1994: Hong-Qiang Heng; Lap-Chee Tsui
Free chromatin mapping by FISH.
Methods in molecular biology (Clifton, N.J.) 1994;33():109-22.
1994: XL Zhang; K L Lee; Hong-Qiang Heng; Lap-Chee Tsui; Jane R Parnes; N S Shepherd; John W Chamberlain
Isolation of P1 bacteriophage clones containing large contiguous segments of the human and mouse loci for the T-cell coreceptor molecule CD8.
Genetic analysis, techniques and applications 1994;11(5-6):129-39.
1994: Philip A Marsden; Hong-Qiang Heng; C L Duff; XM Shi; Lap-Chee Tsui; A V Hall
Localization of the human gene for inducible nitric oxide synthase (NOS2) to chromosome 17q11.2-q12.
Genomics 1994;19(1):183-5.
1993: Brian F O'Dowd; M Heiber; A Chan; Hong-Qiang Heng; Lap-Chee Tsui; J L Kennedy; X Shi; A Petronis; Susan R George; Tuan V Nguyen
A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11.
Gene 1993;136(1-2):355-60.
1993: S T Ali; AM Duncan; K Schappert; Hong-Qiang Heng; Lap-Chee Tsui; W Chow; Brian H Robinson
Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.
Genomics 1993;18(2):435-9.
1993: Hong-Qiang Heng; B Xie; XM Shi; Lap-Chee Tsui; Don J Mahuran
Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.
Genomics 1993;18(2):429-31.
1993: Philip A Marsden; Hong-Qiang Heng; Stephen W Scherer; R J Stewart; A V Hall; XM Shi; Lap-Chee Tsui; K T Schappert
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.
The Journal of biological chemistry 1993;268(23):17478-88.
1993: D M Bryce; Q Liu; W Khoo; Lap-Chee Tsui; M L Breitman
Progressive and regressive fate of lens tumors correlates with subtle differences in transgene expression in gamma F-crystallin-SV40 T antigen transgenic mice.
Oncogene 1993;8(6):1611-20.
1993: Stephen W Scherer; Johanna M Rommens; S Soder; E Wong; N Plavsic; B J Tompkins; A Beattie; J Kim; Lap-Chee Tsui
Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.
Human molecular genetics 1993;2(6):751-60.
1993: Julian Zielenski; Dominique Bozon; Danuta Markiewicz; G Aubin; F Simard; Johanna M Rommens; Lap-Chee Tsui
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.
Human molecular genetics 1993;2(6):683-7.
1993: Hong-Qiang Heng; Lap-Chee Tsui
Modes of DAPI banding and simultaneous in situ hybridization.
Chromosoma 1993;102(5):325-32.
1993: Stephen W Scherer; Ellis J Neufeld; P M Lievens; Stuart H Orkin; J Kim; Lap-Chee Tsui
Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids.
Genomics 1993;15(3):695-6.
1993: Julian Zielenski; T M Fujiwara; Danuta Markiewicz; A J Paradis; A I Anacleto; B Richards; R H Schwartz; Katherine W Klinger; Lap-Chee Tsui; Kenneth Morgan
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.
American journal of human genetics 1993;52(3):609-15.
1993: M Tini; G Otulakowski; M L Breitman; Lap-Chee Tsui; Vincent Giguère
An everted repeat mediates retinoic acid induction of the gamma F-crystallin gene: evidence of a direct role for retinoids in lens development.
Genes & development 1993;7(2):295-307.
1993: D R Goring; D M Bryce; Lap-Chee Tsui; M L Breitman; Q Liu
Developmental regulation and cell type-specific expression of the murine gamma F-crystallin gene is mediated through a lens-specific element containing the gamma F-1 binding site.
Developmental dynamics : an official publication of the American Association of Anatomists 1993;196(2):143-52.
1993: Hong-Qiang Heng; XM Shi; Lap-Chee Tsui
Fluorescence in situ hybridization mapping of the cystic fibrosis transmembrane conductance regulator (CFTR) gene to 7q31.3.
Cytogenetics and cell genetics 1993;62(2-3):108-9.
1993: Arthur L Beaudet; Lap-Chee Tsui
A suggested nomenclature for designating mutations.
Human mutation 1993;2(4):245-8.
1992: Lap-Chee Tsui
The spectrum of cystic fibrosis mutations.
Trends in genetics : TIG 1992;8(11):392-8.
1992: Hong-Qiang Heng; J Squire; Lap-Chee Tsui
High-resolution mapping of mammalian genes by in situ hybridization to free chromatin.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(20):9509-13.
1992: M Cartier; M L Breitman; Lap-Chee Tsui
A frameshift mutation in the gamma E-crystallin gene of the Elo mouse.
Nature genetics 1992;2(1):42-5.
1992: P Kristidis; Dominique Bozon; Mary Corey; Danuta Markiewicz; Johanna M Rommens; Lap-Chee Tsui; Peter Roy Durie
Genetic determination of exocrine pancreatic function in cystic fibrosis.
American journal of human genetics 1992;50(6):1178-84.
1992: D R Goring; M L Breitman; Lap-Chee Tsui
Temporal regulation of six crystallin transcripts during mouse lens development.
Experimental eye research 1992;54(5):785-95.
1992: Stephen W Scherer; B J Tompkins; Lap-Chee Tsui
A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(3):179-81.
1992: Lap-Chee Tsui
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
Human mutation 1992;1(3):197-203.
1991: J L Chou; Richard Rozmahel; Lap-Chee Tsui
Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene.
The Journal of biological chemistry 1991;266(36):24471-6.
1991: M D Fried; Peter Roy Durie; Lap-Chee Tsui; Mary Corey; H Levison; Paul B Pencharz
The cystic fibrosis gene and resting energy expenditure.
The Journal of pediatrics 1991;119(6):913-6.
1991: Julian Zielenski; Danuta Markiewicz; F Rininsland; Johanna M Rommens; Lap-Chee Tsui
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
American journal of human genetics 1991;49(6):1256-62.
1991: I S Ng; R Pace; M V Richard; K Kobayashi; Batsheva Kerem; Lap-Chee Tsui; Arthur L Beaudet
Methods for analysis of multiple cystic fibrosis mutations.
Human genetics 1991;87(5):613-7.
1991: Johanna M Rommens; Sascha E Dho; Christine E Bear; Norbert Kartner; D Kennedy; John R Riordan; Lap-Chee Tsui; J Kevin Foskett
cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(17):7500-4.
1991: T Yorifuji; W K Lemna; C F Ballard; C L Rosenbloom; Richard Rozmahel; N Plavsic; Lap-Chee Tsui; Arthur L Beaudet
Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator.
Genomics 1991;10(3):547-50.
1991: Julian Zielenski; Dominique Bozon; Batsheva Kerem; Danuta Markiewicz; Peter Roy Durie; Johanna M Rommens; Lap-Chee Tsui
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Genomics 1991;10(1):229-35.
1991: Julian Zielenski; Richard Rozmahel; Dominique Bozon; Batsheva Kerem; Z Grzelczak; John R Riordan; Johanna M Rommens; Lap-Chee Tsui
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Genomics 1991;10(1):214-28.
1991: Q R Liu; M Tini; Lap-Chee Tsui; M L Breitman
Interaction of a lens cell transcription factor with the proximal domain of the mouse gamma F-crystallin promoter.
Molecular and cellular biology 1991;11(3):1531-7.
1991: Norbert Kartner; John W Hanrahan; Timothy J Jensen; A L Naismith; S Z Sun; Cameron Ackerley; E F Reyes; Lap-Chee Tsui; Johanna M Rommens; Christine E Bear
Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance.
Cell 1991;64(4):681-91.
1991: Stephen W Scherer; Gail Otulakowski; Brian H Robinson; Lap-Chee Tsui
Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32.
Cytogenetics and cell genetics 1991;56(3-4):176-7.
1991: Lap-Chee Tsui; Manuel Buchwald
Biochemical and molecular genetics of cystic fibrosis.
Advances in human genetics 1991;20():153-266, 311-2.
1991: Lap-Chee Tsui; Johanna M Rommens; Batsheva Kerem; Richard Rozmahel; Julian Zielenski; D Kennedy; Danuta Markiewicz; N Plavsic; J L Chou; Dominique Bozon
Molecular genetics of cystic fibrosis.
Advances in experimental medicine and biology 1991;290():9-17; discussion 17-8.
1990: E Kerem; Mary Corey; Batsheva Kerem; Johanna M Rommens; Danuta Markiewicz; H Levison; Lap-Chee Tsui; Peter Roy Durie
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
The New England journal of medicine 1990;323(22):1517-22.
1990: Rima Rozen; R H Schwartz; B C Hilman; P Stanislovitis; Glenn T Horn; Katherine W Klinger; J Daigneault; Marc de Braekeleer; B Kerem; Lap-Chee Tsui
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.
American journal of human genetics 1990;47(4):606-10.
1990: C C Yu; Lap-Chee Tsui; M L Breitman
Homologous and heterologous enhancers modulate spatial expression but not cell-type specificity of the murine gamma F-crystallin promoter.
Development (Cambridge, England) 1990;110(1):131-9.
1990: G Melmer; R Sood; Johanna M Rommens; D Rego; Lap-Chee Tsui; Manuel Buchwald
Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization.
Genomics 1990;7(2):173-81.
1990: W K Lemna; Gerald L Feldman; Batsheva Kerem; S D Fernbach; E P Zevkovich; William E O'Brien; John R Riordan; Francis S Collins; Lap-Chee Tsui; Arthur L Beaudet
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.
The New England journal of medicine 1990;322(5):291-6.
1989: Johanna M Rommens; S Zengerling-Lentes; Batsheva Kerem; G Melmer; Manuel Buchwald; Lap-Chee Tsui
Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis.
American journal of human genetics 1989;45(6):932-41.
1989: C L Rosenbloom; Batsheva Kerem; J M Rommens; Lap-Chee Tsui; Brandon J Wainwright; R Williamson; William E O'Brien; Arthur L Beaudet
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.
Nucleic acids research 1989;17(17):7117.
1989: Batsheva Kerem; Johanna M Rommens; J A Buchanan; Danuta Markiewicz; T K Cox; Aravinda Chakravarti; Manuel Buchwald; Lap-Chee Tsui
Identification of the cystic fibrosis gene: genetic analysis.
Science (New York, N.Y.) 1989;245(4922):1073-80.
1989: Manuel Buchwald; Lap-Chee Tsui; John R Riordan
The search for the cystic fibrosis gene.
The American journal of physiology 1989;257(2 Pt 1):L47-52.
1989: M L Breitman; D M Bryce; E Giddens; S Clapoff; D Goring; Lap-Chee Tsui; G K Klintworth; alan bernstein
Analysis of lens cell fate and eye morphogenesis in transgenic mice ablated for cells of the lens lineage.
Development (Cambridge, England) 1989;106(3):457-63.
1989: Batsheva Kerem; J A Buchanan; Peter Roy Durie; Mary Corey; H Levison; Johanna M Rommens; Manuel Buchwald; Lap-Chee Tsui
DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.
American journal of human genetics 1989;44(6):827-34.
1989: S Lok; W Stevens; M L Breitman; Lap-Chee Tsui
Multiple regulatory elements of the murine gamma 2-crystallin promoter.
Nucleic acids research 1989;17(9):3563-82.
1989: E Kerem; Mary Corey; Batsheva Kerem; Peter Roy Durie; Lap-Chee Tsui; H Levison
Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus.
The Journal of pediatrics 1989;114(5):767-73.
1989: Lap-Chee Tsui
Tracing the mutations in cystic fibrosis by means of closely linked DNA markers.
American journal of human genetics 1989;44(3):303-6.
1989: S O Meakin; J R Reddan; Lap-Chee Tsui; M L Breitman
A rabbit lens epithelial cell line supports expression of an exogenous crystallin gene characteristic of lens fiber cell differentiation.
Experimental eye research 1989;48(1):131-7.
1988: Maria A Musarella; Arthur H M Burghes; L Anson-Cartwright; M M Mahtani; R Argonza; Lap-Chee Tsui; R Worton
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.
American journal of human genetics 1988;43(4):484-94.
1988: Lap-Chee Tsui; Johanna M Rommens; J Burns; S Zengerling; John R Riordan; Leon R Carlock; K H Grzeschik; Manuel Buchwald
Progress towards cloning the cystic fibrosis gene.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1988;319(1194):263-73.
1988: Lap-Chee Tsui
Genetic markers on chromosome 7.
Journal of medical genetics 1988;25(5):294-306.
1987: M L Breitman; S Clapoff; Janet Rossant; Lap-Chee Tsui; L Michael Glode; Ian H Maxwell; alan bernstein
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice.
Science (New York, N.Y.) 1987;238(4833):1563-5.
1987: P Quinlan; S Oda; M L Breitman; Lap-Chee Tsui
The mouse eye lens obsolescence (Elo) mutant: studies on crystallin gene expression and linkage analysis between the mutant locus and the gamma-crystallin genes.
Genes & development 1987;1(7):637-44.
1987: Paul Russell; S O Meakin; TC Hohman; Lap-Chee Tsui; M L Breitman
Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens.
Molecular and cellular biology 1987;7(9):3320-3.
1987: S O Meakin; R P Du; Lap-Chee Tsui; M L Breitman
Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.
Molecular and cellular biology 1987;7(8):2671-9.
1987: Paul Russell; D Garland; J. SAMUEL ZIGLER; S O Meakin; Lap-Chee Tsui; M L Breitman
Aging effects of vitamin C on a human lens protein produced in vitro.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1987;1(1):32-5.
1987: S Zengerling; Lap-Chee Tsui; K H Grzeschik; K Olek; John R Riordan; Manuel Buchwald
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7.
American journal of human genetics 1987;40(3):228-36.
1987: D R Goring; Janet Rossant; S Clapoff; M L Breitman; Lap-Chee Tsui
In situ detection of beta-galactosidase in lenses of transgenic mice with a gamma-crystallin/lacZ gene.
Science (New York, N.Y.) 1987;235(4787):456-8.
1987: Manuel Buchwald; Lap-Chee Tsui
Current status of the genetics of cystic fibrosis.
Progress in clinical and biological research 1987;254():19-29.
1987: Lap-Chee Tsui; N Plavsic; Danuta Markiewicz; M Zsiga; D Kennedy; S Zengerling; C Geller; Z Hajjar; S Kuper; H Panak
Molecular approaches to the cystic fibrosis gene.
Progress in clinical and biological research 1987;254():73-87.
1987: R Kaiser; J Weber; K H Grzeschik; J E Edström; A Driesel; S Zengerling; Manuel Buchwald; Lap-Chee Tsui; K Olek
Microdissection and microcloning of the long arm of human chromosome 7.
Molecular biology reports 1987;12(1):3-6.
1987: John R Riordan; J Burns; Lap-Chee Tsui; M M Reddy; P Quinton; Manuel Buchwald
Utilization of cultured epithelial cells from the sweat gland in studies of the CF defect.
Progress in clinical and biological research 1987;254():59-71.
1985: A L Naismith; E Hoffman-Chudzik; Lap-Chee Tsui; John R Riordan
Study of the expression of myelin proteolipid protein (lipophilin) using a cloned complementary DNA.
Nucleic acids research 1985;13(20):7413-25.
1985: H F Willard; S O Meakin; Lap-Chee Tsui; M L Breitman
Assignment of human gamma crystallin multigene family to chromosome 2.
Somatic cell and molecular genetics 1985;11(5):511-6.
1985: S O Meakin; M L Breitman; Lap-Chee Tsui
Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.
Molecular and cellular biology 1985;5(6):1408-14.
1985: Lap-Chee Tsui; M Zsiga; D Kennedy; N Plavsic; Danuta Markiewicz; Manuel Buchwald
Cystic fibrosis: progress in mapping the disease locus using polymorphic DNA markers. I.
Cytogenetics and cell genetics 1985;39(4):299-301.