Lap-Chee Tsui

Q: What Schools Are Affiliated With Lap-Chee Tsui

Lap-Chee Tsui is affiliated with the following schools: York University, McGill University, Chinese University of Hong Kong, University of Toronto, University of Pittsburgh

Lap-Chee Tsui's AcademicInfluence.com Rankings

Lap-Chee Tsui

Biology

#347

World Rank

#620

Historical Rank

Genetics

#46

World Rank

#72

Historical Rank

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Biology

Why Is Lap-Chee Tsui Influential?

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According to Wikipedia, Lap-Chee Tsui is a Chinese-born Canadian geneticist and served as the 14th Vice-Chancellor and President of the University of Hong Kong. Personal life He grew up in Kowloon, Hong Kong and attended .

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Lap-Chee Tsui's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA (1989) (4149)
Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis (1989) (2735)
Identification of the cystic fibrosis gene: genetic analysis. (1989) (1687)
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas (1997) (1501)
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (1996) (1136)
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. (1993) (903)
MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma (1996) (900)
A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11. (1993) (756)
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). (1990) (706)
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly (1996) (656)
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. (1997) (623)
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer (1990) (554)
Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor (1997) (545)
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (1991) (537)
High-resolution mapping of mammalian genes by in situ hybridization to free chromatin. (1992) (495)
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. (1985) (482)
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy (1998) (479)
Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance (1991) (457)
Genetic determination of exocrine pancreatic function in cystic fibrosis. (1992) (452)
A mutation in CFTR produces different phenotypes depending on chromosomal background (1993) (449)
The spectrum of cystic fibrosis mutations. (1992) (435)
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor (1996) (404)
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein (1999) (373)
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein (1990) (365)
A suggested nomenclature for designating mutations (1993) (320)
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome (2001) (319)
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7 (1985) (317)
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence (2003) (250)
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice. (1987) (246)
Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions (1997) (234)
Multi-ion pore behaviour in the CFTR chloride channel (1993) (234)
Molecular analysis of the PDS gene in Pendred syndrome. (1998) (228)
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. (1998) (225)
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 (1999) (222)
Human Chromosome 7: DNA Sequence and Biology (2003) (208)
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. (1996) (204)
Rapid nonradioactive detection of the major cystic fibrosis mutation. (1990) (201)
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. (1990) (199)
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. (2002) (193)
Cloning and chromosomal mapping of three novel genes, GPR9, GPR10, and GPR14, encoding receptors related to interleukin 8, neuropeptide Y, and somatostatin receptors. (1995) (190)
An embryoprotective role for glucose‐6‐phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis (2000) (189)
Identification of revertants for the cystic fibrosis ΔF508 mutation using STE6-CFTR chimeras in yeast (1993) (182)
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas (2003) (176)
Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence. (1998) (175)
Cloning and Characterization of PDK4 on 7q21.3 Encoding a Fourth Pyruvate Dehydrogenase Kinase Isoenzyme in Human* (1996) (175)
Lung disease in mice with cystic fibrosis. (1997) (172)
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium (1992) (167)
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. (2006) (167)
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (1991) (166)
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. (1997) (166)
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. (1994) (157)
An everted repeat mediates retinoic acid induction of the gamma F-crystallin gene: evidence of a direct role for retinoids in lens development. (1993) (155)
Phosphatase inhibitors activate normal and defective CFTR chloride channels. (1994) (155)
Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations (1999) (150)
Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. (1997) (146)
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia (1995) (141)
Complex two-gene modulation of lung disease severity in children with cystic fibrosis. (2008) (139)
Involvement of the HLXB9 homeobox gene in Currarino syndrome. (2000) (139)
Cloning of human genes encoding novel G protein-coupled receptors. (1994) (138)
The cystic fibrosis transmembrane conductance regulator gene. (1995) (134)
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. (1999) (131)
The cloning and chromosomal mapping of two novel human opioid-somatostatin-like receptor genes, GPR7 and GPR8, expressed in discrete areas of the brain. (1995) (128)
Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability (2000) (126)
In situ detection of beta-galactosidase in lenses of transgenic mice with a gamma-crystallin/lacZ gene. (1987) (124)
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. (1990) (122)
Modes of DAPI banding and simultaneous in situ hybridization (1993) (119)
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (1996) (118)
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. (1991) (113)
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly (1997) (110)
A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type (2004) (108)
Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. (1998) (107)
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis (2005) (106)
Regulation of meiotic chromatin loop size by chromosomal position. (1996) (106)
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. (1997) (101)
Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus. (1997) (100)
DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. (1989) (98)
cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator. (1991) (97)
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency (2005) (97)
MLK-3: identification of a widely-expressed protein kinase bearing an SH3 domain and a leucine zipper-basic region domain. (1994) (96)
Genome scan for linkage to Gilles de la Tourette syndrome. (1994) (95)
CFTR gene variant for patients with congenital absence of vas deferens. (1995) (95)
Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas (1997) (95)
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. (2008) (95)
Biochemical and molecular genetics of cystic fibrosis. (1991) (94)
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. (2002) (93)
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis (2003) (91)
Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene. (1991) (90)
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. (1992) (90)
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. (1996) (89)
Structural and evolutionary relationships among five members of the human gamma-crystallin gene family (1985) (85)
Isolation of three novel human genes encoding G protein-coupled receptors. (1995) (85)
Report of the committee on the genetic constitution of chromosomes 7, 8 and 9. (1987) (85)
Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes. (1996) (85)
Overlapping and non-overlapping Ptch2 expression with Shh during mouse embryogenesis (1998) (84)
Impaired ability of Cftr knockout mice to control lung infection with Pseudomonas aeruginosa. (1998) (83)
Physical mapping of the holoprosencephaly critical region on chromosome 7q36 (1993) (83)
A frameshift mutation in the γE–crystallin gene of the Elo mouse (1992) (82)
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (1991) (81)
A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family. (1987) (80)
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. (1997) (78)
Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome) (2002) (78)
Analysis of lens cell fate and eye morphogenesis in transgenic mice ablated for cells of the lens lineage. (1989) (77)
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (1997) (77)
Comparison between intratracheal and intravenous administration of liposome–DNA complexes for cystic fibrosis lung gene therapy (1998) (77)
Receptor-binding, tyrosine phosphorylation and chromosome localization of the mouse SH2-containing phosphotyrosine phosphatase Syp. (1994) (76)
Glucose intolerance in children with cystic fibrosis. (2003) (74)
Gamma-crystallin family of the mouse lens: structural and evolutionary relationships. (1984) (72)
Erratum: Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor (Nature Genetics (1996) 12 (280-287)) (1996) (71)
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. (1997) (69)
Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites. (1998) (69)
Genotype and phenotype in cystic fibrosis. (1997) (69)
Localization of the human gene for inducible nitric oxide synthase (NOS2) to chromosome 17q11.2-q12. (1994) (69)
Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family (1987) (69)
The XRCC2 DNA repair gene: identification of a positional candidate. (1997) (68)
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements. (1998) (68)
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (1999) (67)
Screening for genetic mutations (1996) (66)
Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency* (2007) (66)
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. (2003) (63)
Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia (2004) (63)
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. (1988) (63)
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers (1996) (62)
Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (1998) (59)
The cystic fibrosis gene: a molecular genetic perspective. (2013) (59)
The murine Xe169 gene escapes X–inactivation like its human homologue (1994) (58)
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results (2009) (58)
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. (1993) (58)
Analysis of the mouse gamma-crystallin gene family: assignment of multiple cDNAs to discrete genomic sequences and characterization of a representative gene. (1984) (57)
Study of the expression of myelin proteolipid protein (lipophilin) using a cloned complementary DNA. (1985) (56)
Role of the host in virus assembly: cloning of the Escherichia coli groE gene and identification of its protein product. (1978) (56)
Novel mutation in the gene encoding c‐Abl‐binding protein SH3BP2 causes cherubism (2003) (56)
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. (2002) (55)
Gene structure of the human MET proto-oncogene (1997) (54)
Multiple regulatory elements of the murine γ2-crystallin promoter (1989) (54)
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. (2001) (53)
Amplification of CFTR exon 9 sequences to multiple locations in the human genome. (1997) (52)
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I) (1998) (52)
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. (1996) (52)
Lens-specific promoter activity of a mouse gamma-crystallin gene. (1985) (52)
Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents. (1995) (52)
The BCL7 gene family: deletion of BCL7B in Williams syndrome. (1998) (52)
Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas (1997) (51)
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. (1989) (51)
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations. (1998) (51)
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G (1994) (50)
Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. (1986) (50)
Population analysis of the major mutation in cystic fibrosis. (1990) (50)
Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice (2002) (50)
Temporal regulation of six crystallin transcripts during mouse lens development. (1992) (50)
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. (2001) (50)
Introduction and recovery of a selectable bacterial gene from the genome of mammalian cells (1982) (49)
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 (2004) (49)
In vivo measurements of ion transport in long-living CF mice. (1996) (48)
Sequence Analysis and Chromosomal Localization of Human Cap Z (1995) (48)
Differential expression of a basic helix-loop-helix phosphoprotein gene, G0S8, in acute leukemia and localization to human chromosome 1q31. (1995) (47)
Differential regulation of γ-crystallin genes during mouse lens development☆ (1987) (47)
Detailed deletion mapping with a refined physical map of 7q31 localizes a putative tumor suppressor gene for breast cancer in the region of MET. (1996) (46)
High resolution free chromatin/DNA fiber fluorescent in situ hybridization. (1998) (46)
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. (1996) (46)
FISH detection on DAPI-banded chromosomes. (1994) (45)
Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator. (1991) (44)
Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse. (1998) (44)
Developmental regulation and cell type‐specific expression of the murine γF‐crystallin gene is mediated through a lens‐specific element containing the γF‐1 binding site (1993) (44)
Persistence of freely replicating SV40 recombinant molecules carrying a selectable marker in permissive simian cells (1982) (44)
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (1996) (43)
Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein (2000) (42)
Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis (2000) (42)
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A) (2000) (41)
Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q. (1996) (40)
Identification of a human LIM-Hox gene, hLH-2, aberrantly expressed in chronic myelogenous leukaemia and located on 9q33-34.1. (1996) (40)
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. (1999) (40)
The cystic fibrosis gene: isolation and significance. (1990) (39)
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly (1998) (39)
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 (1995) (39)
Head-tail connector of bacteriophage lambda. (1980) (39)
Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (1999) (38)
Assignment of human gamma crystallin multigene family to chromosome 2 (1985) (38)
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. (2003) (37)
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations. (1993) (37)
Linkage study of the dopamine D5 receptor gene and Gilles de la Tourette syndrome. (1997) (37)
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families (1992) (36)
Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12. (1997) (36)
Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome. (1997) (35)
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. (2009) (35)
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. (1994) (35)
Organization of heterologous DNA inserts on the mouse meiotic chromosome core (1994) (34)
Cystic fibrosis gene mutations and infertile men with primary testicular failure (2000) (34)
Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32. (1991) (33)
The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. (1997) (32)
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. (1987) (32)
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. (1994) (32)
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13 (2004) (32)
Nucleotide sequence for the cDNA of the bovine beta B2 crystallin and assignment of the orthologous human locus to chromosome 22. (1987) (31)
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. (2001) (31)
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants (2005) (31)
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. (2006) (31)
Homologous and heterologous enhancers modulate spatial expression but not cell-type specificity of the murine gamma F-crystallin promoter. (1990) (31)
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. (1995) (31)
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. (1990) (30)
Mutations in the CHX10 gene in non‐syndromic microphthalmia/anophthalmia patients from Qatar (2007) (30)
Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice (2002) (30)
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel. (2002) (29)
Genetic variation in paraoxonase‐2 is associated with variation in plasma lipoproteins in Canadian Oji‐Cree (1998) (29)
The mouse eye lens obsolescence (Elo) mutant: studies on crystallin gene expression and linkage analysis between the mutant locus and the gamma-crystallin genes. (1987) (29)
Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians. (1998) (29)
Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1. (1997) (28)
Heterodimeric interaction of the retinoic acid and thyroid hormone receptors in transcriptional regulation on the gamma F-crystallin everted retinoic acid response element. (1994) (28)
Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis. (1989) (28)
Interaction of a lens cell transcription factor with the proximal domain of the mouse gamma F-crystallin promoter (1991) (28)
Proteolytic processing of phage λ tail protein gpH: timing of the cleavage (1983) (27)
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families (2008) (27)
Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). (1996) (27)
Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. (1993) (27)
Regulated expression of the human CFTR gene in epithelial cells. (2001) (27)
Cystic fibrosis in Uruguay. (2002) (26)
Aging effects of vitamin C on a human lens protein produced in vitro (1987) (26)
Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids. (1993) (26)
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. (1994) (26)
Genetic analysis of cystic fibrosis using linked DNA markers. (1986) (26)
Assignment of the human γ-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33–36 (1986) (25)
Erratum: A frameshift mutation in the γE-crystallin gene of the Elo mouse (1992) (25)
Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA. (1997) (24)
Assignment of the human CC chemokine MPIF-2/eotaxin-2 (SCYA24) to chromosome 7q11.23. (1998) (24)
Twenty-five loci form a continuous linkage map of markers for human chromosome 7. (1989) (23)
Linkage between the loci for cystic fibrosis and paraoxonase (1986) (23)
An RFLP associated with the human catalase gene. (1985) (23)
Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3. (2002) (23)
Erratum: Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers (Human Mutation (1996) 8 (149-159)) (1996) (22)
Proteolytic processing of phage lambda tail protein gpH: timing of the cleavage. (1983) (22)
Tracing the mutations in cystic fibrosis by means of closely linked DNA markers. (1989) (21)
Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens (1987) (20)
Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients (2001) (20)
Loci of intestinal distress in cystic fibrosis knockout mice. (2003) (20)
Molecular genetics of cystic fibrosis. (1991) (20)
Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome. (1994) (20)
Mutation analysis in cystic fibrosis. (1990) (20)
Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes (1997) (20)
A frameshift mutation in the gamma E-crystallin gene of the Elo mouse. (1992) (20)
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (1995) (19)
Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993. (1994) (19)
Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region. (1993) (19)
Probing the basic defect in cystic fibrosis. (1991) (19)
Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR (2008) (19)
Localization of the gene encoding the α2/δ subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21- q22 by somatic cell hybrid analysis (1994) (19)
A rabbit lens epithelial cell line supports expression of an exogenous crystallin gene characteristic of lens fiber cell differentiation. (1989) (18)
Cystic fibrosis gene mutations and infertile men with primary testicular failure. (1999) (18)
Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques. (1996) (18)
Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus. (1993) (18)
A YAC-based contig of 1.5 Mb spanning the human multidrug resistance gene region and delineating the amplification unit in three human multidrug-resistant cell lines. (1995) (18)
Methods for analysis of multiple cystic fibrosis mutations (1991) (18)
Mapping of the cystic fibrosis locus on chromosome 7. (1986) (17)
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X (2007) (17)
Localization of a beta-crystallin gene, Hu beta A3/A1 (gene symbol: CRYB1), to the long arm of human chromosome 17. (1986) (16)
Report of the second international workshop on human chromosome 7 mapping 1994. (1995) (16)
Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping (1997) (16)
Report of the committee on the genetic constitution of chromosome 7. (1990) (15)
Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. (1996) (15)
Progress towards cloning the cystic fibrosis gene. (1988) (15)
Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). (1997) (15)
Assignment of the human homolog of mouse Dlx3 to Chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization (1995) (15)
Towards a Transcriptional Map of the q21-q22 Region of Chromosome 7 (1994) (14)
Free chromatin mapping by FISH. (1994) (14)
The search for the cystic fibrosis gene. (1989) (14)
The Identification of the CF (Cystic Fibrosis) Gene (1991) (13)
Arrhythmia and sudden death associated with elevated cardiac chloride channel activity (2011) (13)
Assignment1 of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24 (2000) (13)
Cystic fibrosis: analysis of linkage of the disease locus to red cell and plasma protein markers. (1985) (12)
Renal function and renotropic effects of secretin in cystic fibrosis. (1997) (12)
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis) (2004) (12)
In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus. (1988) (12)
Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype. (1999) (11)
Progressive and regressive fate of lens tumors correlates with subtle differences in transgene expression in gamma F-crystallin-SV40 T antigen transgenic mice. (1993) (11)
Assignment of the human y-crystallin gene cluster ( CRYG ) to the long arm of chromosome 2 , region q 33-36 (11)
Genetic modifiers of severe liver disease in cystic fibrosis (2005) (11)
Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to Chromosome 16 but is distinct from the lpd (lipid defect) locus (2001) (11)
Replication of pSV2-gpt in COS-1 cells: Stability of plasmid DNA in the presence and absence of biochemical selection (1985) (11)
Altered expression and deletion of RMO1 in osteosarcoma (2005) (11)
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. (2005) (11)
Characterization of the segmental duplication LCR7-20 in the human genome. (2004) (10)
Genetic markers on chromosome 7. (1988) (10)
Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (1996) (10)
Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization. (1990) (10)
Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
Expression analysis and chromosomal assignment of the human SFRS5/SRp40 gene. (1997) (10)
Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1. (1998) (9)
Localization of the human gene encoding the 13.3-kDa subunit of mitochondrial complex III (UQCRB) to 8q22 by in situ hybridization. (1996) (9)
No evidence for genetic heterogeneity in cystic fibrosis. (1988) (9)
Genomic organization and FISH mapping of human Pmel 17, the putative silver locus. (1996) (9)
Linkage of DNA probe B79a (D7S13) to cystic fibrosis. (1987) (9)
Transcriptional activation of immediate-early gene ETR101 by human T-cell leukaemia virus type I Tax. (2003) (9)
Fluorescence in situ hybridization mapping of the cystic fibrosis transmembrane conductance regulator (CFTR) gene to 7q31.3. (1993) (9)
Delineation of genomic regions in chromosome band 7q22 commonly deleted in myeloid leukemias. (1998) (8)
Title Identification of a polymorphic DNA marker pDL32B (D12S7) and its localization to the long arm of chromosome 12, region q14.3- qter (1985) (8)
Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
Report of the committee on the genetic constitution of chromosomes 7 and 8. (1988) (8)
Genetic Determination ofExocrine Pancreatic Function inCystic Fibrosis (1992) (8)
Crystallin Genes and Cataract (1994) (8)
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. (2002) (7)
Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) required for maintenance of the mammalian photoreceptor. (1997) (7)
Cystic fibrosis: progress in mapping the disease locus using polymorphic DNA markers. I. (1985) (7)
Differential regulation of gamma-crystallin genes during mouse lens development. (1987) (7)
Cystic fibrosis (CF). (2006) (7)
The depression of endolysin synthesis in bacteria infected with high multiplicities of phage λ (1976) (6)
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9‐cM region on chromosome 11q23 (2004) (6)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients (1997) (6)
Mapping the midkine family of developmentally regulated signaling molecules (1993) (6)
Assignment of the human dUTPase gene (DUT) to chromosome 15q15-q21. 1 by fluorescence in situ hybridization. (1997) (6)
Microdissection and microcloning of the long arm of human chromosome 7 (2004) (5)
The murine cataractogenic mutation, Cat Fraser, segregates independently of the gamma crystallin genes. (1988) (5)
High‐Resolution FISH Analysis (1995) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
Assignment of mouse fibroblast growth factor 10 (Fgf10) gene to the telomeric region of chromosome 13. (1998) (5)
Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus. (1999) (5)
A human Chromosome 7-specific genomic DNA library in yeast artificial chromosomes (2004) (5)
Multiple regulatory elements of the murine gamma 2-crystallin promoter. (1989) (5)
Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
y-Crystallin family of the mouse lens: Structural and evolutionary relationships (4)
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. (1993) (4)
Calendar of Events: 1991 — 1992 (1991) (4)
Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
NASAL TRANSEPITHELIAL POTENTIAL DIFFERENCE IN PATIENTS WITH DEFINED CFTR GENE MUTATIONS (1995) (4)
Molecular approaches to the cystic fibrosis gene. (1987) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. (1994) (4)
15 Analysis of candidate genes as modifiers of Cystic Fibrosis (2006) (3)
Isolation of P1 bacteriophage clones containing large contiguous segments of the human and mouse loci for the T-cell coreceptor molecule CD8. (1994) (3)
Molecular genetics of cystic fibrosis. (1991) (3)
Further data on linkage between cystic fibrosis and 7C22 (D7S16) (1987) (3)
Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. (1998) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
Assignment of the gene encoding the limbic system-associated membrane protein (LAMP) to mouse chromosome 16B5 and human chromosome 3q13.2-q21. (1998) (3)
SARS genome patent: to manage and to share (2003) (3)
Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
Homologous and heterologous enhancers modulate spatial expression but not cell-type specificity of the murine yF-crystallin promoter (2005) (3)
Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
P0915 MECONIUM ILEUS IN CYSTIC FIBROSIS NEONATES IS ASSOCIATED WITH POLYMORPHIC MARKERS IN THE CALCIUM-ACTIVATED POTASSIUM CHANNEL (KCNN4) GENE (2004) (3)
Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
Owl monkey gene map: evidence for a homologous human chromosome 7q region near the cystic fibrosis locus. (1989) (2)
Genetics of disease: Homo sapiens as a model organism (2003) (2)
RESPIRATORIO Lung Disease in Mice with Cystic Fibrosis (1997) (2)
Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
Letter to the editorMutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis (2000) (1)
Contents Vol. 55, 1990 (1990) (1)
Cystic fibrosis — the human impact of analytical technology (1992) (1)
Defining the modifiers of CF pathophysiology (1998) (1)
Genome Canada update (2000) (1)
Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism (1992) (1)
Chromosomal mapping of the second humanCD8B gene locus (2004) (1)
Alexander F. Zakharov (1986) (1)
Report of the committee on the genetic constitution of chromosomes 7 and 8. (1989) (1)
Erratum: Differential expression of a basic helix-loop-helix phosphoprotein gene, GOS8, in acute leukemia and localization to human chromosome 1q31 (Leukemia (1995) 9 (1291-1298)) (1995) (1)
Role of gene T in phage lambda tail assembly. (1983) (1)
Molecular consequences of CFTR gene mutations in the exocrine pancreas (1998) (1)
Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human Chromosome band 5ql4 (1997) (1)
Application Domains: The Human Genome Project (2007) (1)
RETROSPECTIVE ANALYSIS OF PANCREATIC SUFFICIENT PATIENTS WITH CYSTIC FIBROSIS WITH AND WITHOUT PANCREATITIS: 60 (1997) (1)
Role of gene T in phage λ tail assembly (1983) (1)
A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7. (1996) (1)
Reply to Zlotogora. (1995) (0)
Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
2 The Human Genome Project (2001) (0)
Do in silico tools predict the clinical consequences of CFTR missense mutations (2008) (0)
Reply to “Genome Canada update” (2000) (0)
Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14. (1997) (0)
High‐Resolution FISH Analysis (1995) (0)
Subject Index Vol. 56, 1991 (1991) (0)
141 Molecular definition of two narrow interval at 7q22.1 and 7Q34 associated with myelodysplasia (1997) (0)
7 Identification of DNA variants in non-coding regions of the CFTR gene (2006) (0)
Isolation of cDNA clones for myelin proteolipid protein (lipophilin) (1985) (0)
Obstructive Azoospermia: Importance of Extensive Screening for Mutations in the Cftr Gene (1999) (0)
Subject Index Vol. 39, 1985 (1985) (0)
Association of primary sclerosing cholangifis (PSC) with the cystic fibrosis (CF) carrier state: Results 01 extensive genotypic and phenotypic analysis (2001) (0)
O-139 Higher proportion of intact exon 9 cystic fibrosis transmembrane conductance regulator (CFTR) messenger ribonucleic acid (mRNA) transcripts in nasal epithelium compared to vas deferens (1997) (0)
Catechol-dependent cardiac arrhythmias associated with chloride channel overexpression in murine heart (2005) (0)
Gene mapping and medical genetics (0)
PROGRESS TOWARDS CLONING OF THE CYSTIC FIBROSIS GENE — IDENTIFICATION OF NEW DNA MARKERS IN THE 7Q31 REGION (1987) (0)
Lens-specific promoter activity of a mouse gamma-crystallin gene (1985) (0)
PATIENTS PREVIOUSLY DIAGNOSED WITH CYSTIC FIBROSIS: VALUE OF NASAL POTENTIAL DIFFERENCE IN BORDERLINE CASES (1995) (0)
FUNCTIONAL ANALYSIS OF THE HUMAN GENOME: STUDY OF GENETIC DISEASE (2003) (0)
Revised guidelines for authors of gene mapping reports (2000) (0)
Valuable libraries (1987) (0)
12* Modulatory effect of MBL2 on the onset of Pseudomonas aeruginosa infection is influenced by the TGFβ1 variants in pediatric CF patients (2007) (0)
Genotype/phenotype in relation to lung disease (1998) (0)
Identification oftheM I I01K Mutation intheCystic Fibrosis Transmembrane Conductance Regulator (CFTR)Geneand CompleteDetection ofCystic Fibrosis Mutations inthe Hutterite Population (1993) (0)
O IX.2 Molecular cloning and functional characterization of the human XRCC2 DNA repair gene (1997) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Genemapping andmedical genetics (2011) (0)
SARS genome patent: to manage and to share (2003) (0)
Contents Vol. 87, 1999 (2000) (0)
Locus CFM1: a potential modifier of pancreatic disease in children with cystic fibrosis (2003) (0)
Index by Abstract Number (1989) (0)
Author Index / Subject Index Vol. 49, 1988 (1988) (0)
Effects of Glucocorticoid Immunosuppression on Se- rum Cystatin C Concentrations in Renal Transplant (2001) (0)
Subject Index, Vol. 73, 1996 (1996) (0)
Developmental regulation of γ-crystallin gene expression in the lens (1992) (0)
Human ehrlichiosis in Thailand (1997) (0)
Current status of the genetics of cystic fibrosis. (1987) (0)
Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
Subject Index Vol. 41, 1986 (2004) (0)
A frameshift mutation in the γE-crystallin gene of the Elo mice (1992) (0)
Index by Keyword (1989) (0)
Efficient FISH mapping with small cDNA probe and its application in comparative mapping (1994) (0)
Role of the host in virus assembly: 4 groE gene and identification of its (transducing phage/in vitro recombination) (2016) (0)
Title Page / Table of Contents / Abstracts (1991) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Contents, Vol. 56, 1991 (2004) (0)
Mutations of the cystic fibrosis transmembrane regulator gene in patients of fibrocalculous pancreatic diabetes (2000) (0)
Subject index Vol. 46, 1987 (1987) (0)
Cystic Fibrosis LocusDefined byaGenetically Linked Polymorphic DNAMarker (2014) (0)
Introns and exons of the cystic fibrosis gene for cystic and mutations represent several of the gens (1991) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
Chapter 2. The Human Genome Project (2001) (0)
Subject Index Vol. 42, 1986 (1986) (0)
Subject Index Vol. 87, 1999 (2000) (0)

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