Lap Chee Tsui

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Lap Chee



Publications in SciGraph latest 50 shown

  • 2009-12 Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results in HUMAN GENETICS
  • 2007-10-18 A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • 2007-10-18 Genome-wide detection and characterization of positive selection in human populations in NATURE
  • 2005-12 The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis in HUMAN GENETICS
  • 2005-07 Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency in JOURNAL OF HUMAN GENETICS
  • 2005-02 A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1 in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2003-08 Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis in HUMAN GENETICS
  • 2003-04 Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence in GENOME BIOLOGY
  • 2002-11 Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice in MAMMALIAN GENOME
  • 2002-11 Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice in MAMMALIAN GENOME
  • 2002-03-04 CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel in CYSTIC FIBROSIS METHODS AND PROTOCOLS
  • 2001-11 A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome in NATURE GENETICS
  • 2001-02 Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to Chromosome 16 but is distinct from the lpd (lipid defect) locus in MAMMALIAN GENOME
  • 2001 Molecular Cytogenetic Characterization of a Critical Region in Bands 7q35-q36 Commonly Deleted in Malignant Myeloid Disorders in ACUTE LEUKEMIAS VIII
  • 2000-12 Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2000-03 Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A) in HUMAN GENETICS
  • 2000-02 Genome Canada update in NATURE BIOTECHNOLOGY
  • 2000 Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein in CALCIUM: THE MOLECULAR BASIS OF CALCIUM ACTION IN BIOLOGY AND MEDICINE
  • 1999-11 Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations in ONCOGENE
  • 1999-06 Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 in NATURE GENETICS
  • 1999-06 The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein in NATURE GENETICS
  • 1998-10 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy in NATURE GENETICS
  • 1998-04 Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly in HUMAN GENETICS
  • 1998-02 Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I) in HUMAN GENETICS
  • 1998 Delineation of Genomic Regions in Chromosome Band 7 q22 Commonly Deleted in Myeloid Leukemias in ADVANCES IN HEMATOPOIETIC STEM CELL TRANSPLANTATION AND MOLECULAR THERAPY
  • 1997-11 Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping in HUMAN GENETICS
  • 1997-09 Gene structure of the human MET proto-oncogene in ONCOGENE
  • 1997-07 Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly in HUMAN GENETICS
  • 1997-06 Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas in ONCOGENE
  • 1997-05 Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas in ONCOGENE
  • 1997-02 Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human Chromosome band 5ql4 in MAMMALIAN GENOME
  • 1996-11 Mutations in the human Sonic Hedgehog gene cause holoprosencephaly in NATURE GENETICS
  • 1996-11 Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly in NATURE GENETICS
  • 1996-07 Chromosomal mapping of the second humanCD8B gene locus in IMMUNOGENETICS
  • 1996-05 Erratum: Modulation of disease severity in cystic f ibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor in NATURE GENETICS
  • 1996-03 Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor in NATURE GENETICS
  • 1996-03 Screening for genetic mutations in NATURE
  • 1996-02-01 Chromosomal mapping of the second human CD8B gene locus in IMMUNOGENETICS
  • 1995-04 Assignment of the human homolog of mouse Dlx3 to Chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization in MAMMALIAN GENOME
  • 1994-10-31 FISH Detection on DAPI-Banded Chromosomes in IN SITU HYBRIDIZATION PROTOCOLS
  • 1994-10-31 Free Chromatin Mapping by FISH in IN SITU HYBRIDIZATION PROTOCOLS
  • 1994-10 Organization of heterologous DNA inserts on the mouse meiotic chromosome core in CHROMOSOMA
  • 1994-08 The murine Xe169 gene escapes X–inactivation like its human homologue in NATURE GENETICS
  • 1994 Towards a Transcriptional Map of the q21-q22 Region of Chromosome 7 in IDENTIFICATION OF TRANSCRIBED SEQUENCES
  • 1993-11 A mutation in CFTR produces different phenotypes depending on chromosomal background in NATURE GENETICS
  • 1993-11 Multi-ion pore behaviour in the CFTR chloride channel in NATURE
  • 1993-11 Mapping the midkine family of developmentally regulated signaling molecules in MAMMALIAN GENOME
  • 1993-05 Modes of DAPI banding and simultaneous in situ hybridization in CHROMOSOMA
  • 1993-03 Physical mapping of the holoprosencephaly critical region on chromosome 7q36 in NATURE GENETICS
  • 1992-12 Erratum: A frameshift mutation in the γE-crystallin gene of the Elo mouse in NATURE GENETICS
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