Auteur zoekresultaten

1

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium door Lap Chee Tsui

Gepubliceerd in 1992

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A suggested nomenclature for designating mutations door Arthur L. Beaudet, Lap‐Chee Tsui

Gepubliceerd in 1993

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3

Posttranscriptional clearance of hepatitis B virus RNA by cytotoxic T lymphocyte-activated hepatocytes. door Lap‐Chee Tsui, Luca G. Guidotti, Tetsuya Ishikawa, Francis V. Chisari

Gepubliceerd in 1995

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4

Analysis of the mouse γ-crystallin gene family: assignment of multiple cDNAs to discrete genomic sequences and characterization of a representative gene door Si Lok, Lap‐Chee Tsui, Toshimichi Shinohara, Joram Piatigorsky, R. Gold, Martin L. Breitman

Gepubliceerd in 1984

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Artigo

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5

Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability door Asaf Hellman, Ayelet Rahat, Stephen W. Scherer, Ariel Darvasi, Lap‐Chee Tsui, Batsheva Kerem

Gepubliceerd in 2000

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Artigo

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6

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome door Xavier Estivill, Joseph Cheung, Miguel Angel Pujana, Kazuhiko Nakabayashi, Stephen W. Scherer, Lap‐Chee Tsui

Gepubliceerd in 2002

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Artigo

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7

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease door Garry R. Cutting, Laura Kasch, Beryl J. Rosenstein, Lap-Chee Tsui, Haig H. Kazazian, Stylianos E. Antonarakis

Gepubliceerd in 1990

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Artigo

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Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome door Lucy R. Osborne, Sylvia Soder, Xiaomei Shi, Barbara R. Pober, Teresa Costa, Stephen W. Scherer, Lap‐Chee Tsui

Gepubliceerd in 1997

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9

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence door Joseph Cheung, Xavier Estivill, Razi Khaja, Jeffrey R. MacDonald, Ken S. Lau, Lap‐Chee Tsui, Stephen W. Scherer

Gepubliceerd in 2003

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Artigo

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10

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia door Keith Jarvi, Julian Zielenski, Michael Wilschanski, Peter R. Durie, Martin B. Buckspan, Elizabeth Tullis, D. Markiewicz, Lap‐Chee Tsui

Gepubliceerd in 1995

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11

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF508) door Eitan Kerem, Mary Corey, Batsheva Kerem, Johanna M. Rommens, D. Markiewicz, Henry Levison, Lap‐Chee Tsui, Peter R. Durie

Gepubliceerd in 1990

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Artigo

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12

Paraoxonase-2 Gene (PON2) G148 Variant Associated with Elevated Fasting Plasma Glucose in Noninsulin-Dependent Diabetes Mellitus1 door Robert A. Hegele, Philip W. Connelly, Stephen W. Scherer, Anthony J. Hanley, Stewart B. Harris, Lap‐Chee Tsui, Bernard Zinman

Gepubliceerd in 1997

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Artigo

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13

Identification of the Cystic Fibrosis Gene: Genetic Analysis door Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan, D. Markiewicz, Tara Cox, Aravinda Chakravarti, Manuel Buchwald, Lap-Chee Tsui

Gepubliceerd in 1989

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14

Molecular Cytogenetic Delineation of Deletions and Translocations Involving Chromosome Band 7q22 in Myeloid Leukemias door Konstanze Fischer, Stefan Fröhling, Stephen W. Scherer, Jill M. Brown, Claudia Scholl, Stephan Stilgenbauer, Lap-Chee Tsui, Peter Lichter, Hartmut Döhner

Gepubliceerd in 1997

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15

Mutations in the Cystic Fibrosis Transmembrane Regulator Gene andIn VivoTransepithelial Potentials door Michael Wilschanski, Annie Dupuis, Lynda Ellis, Keith Jarvi, Julian Zielenski, Elizabeth Tullis, Sheelagh Martin, Mary Corey, Lap‐Chee Tsui, Peter R. Durie

Gepubliceerd in 2006

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16

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions door Paul Linsdell, Joseph A. Tabcharani, Johanna M. Rommens, Yue-xian Hou, Xiu-Bao Chang, Lap-Chee Tsui, John R. Riordan, John W. Hanrahan

Gepubliceerd in 1997

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17

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 door Isabel Aznarez, Yoseph Barash, Ofer Shai, David He, Julian Zielenski, Lap‐Chee Tsui, John Parkinson, Brendan J. Frey, Johanna M. Rommens, Benjamin J. Blencowe

Gepubliceerd in 2008

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18

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer door Mitchell L. Drumm, Heidi A. Pope, William Cliff, Johanna M. Rommens, Sheila A. Marvin, Lap-Chee Tsui, Francis S. Collins, Raymond A. Frizzell, James M. Wilson

Gepubliceerd in 1990

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19

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 door Michael A. Crackower, Stephen W. Scherer, Johanna M. Rommens, Chi Chung Hui, Parvoneh Poorkaj, Sylvia Soder, Jan Maarten Cobben, Louanne Hudgins, James P. Evans, Lap Chee Tsui

Gepubliceerd in 1996

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20

Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis door Wanda K. Lemna, Gerald L. Feldman, Batsheva Kerem, Susan Fernbach, Elaine P. Zevkovich, William E. O’Brien, John R. Riordan, Francis S. Collins, Lap‐Chee Tsui, Arthur L. Beaudet

Gepubliceerd in 1990

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Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium door Lap Chee Tsui

A suggested nomenclature for designating mutations door Arthur L. Beaudet, Lap‐Chee Tsui

Posttranscriptional clearance of hepatitis B virus RNA by cytotoxic T lymphocyte-activated hepatocytes. door Lap‐Chee Tsui, Luca G. Guidotti, Tetsuya Ishikawa, Francis V. Chisari

Analysis of the mouse γ-crystallin gene family: assignment of multiple cDNAs to discrete genomic sequences and characterization of a representative gene door Si Lok, Lap‐Chee Tsui, Toshimichi Shinohara, Joram Piatigorsky, R. Gold, Martin L. Breitman

Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability door Asaf Hellman, Ayelet Rahat, Stephen W. Scherer, Ariel Darvasi, Lap‐Chee Tsui, Batsheva Kerem

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome door Xavier Estivill, Joseph Cheung, Miguel Angel Pujana, Kazuhiko Nakabayashi, Stephen W. Scherer, Lap‐Chee Tsui

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease door Garry R. Cutting, Laura Kasch, Beryl J. Rosenstein, Lap-Chee Tsui, Haig H. Kazazian, Stylianos E. Antonarakis

Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome door Lucy R. Osborne, Sylvia Soder, Xiaomei Shi, Barbara R. Pober, Teresa Costa, Stephen W. Scherer, Lap‐Chee Tsui

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence door Joseph Cheung, Xavier Estivill, Razi Khaja, Jeffrey R. MacDonald, Ken S. Lau, Lap‐Chee Tsui, Stephen W. Scherer

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia door Keith Jarvi, Julian Zielenski, Michael Wilschanski, Peter R. Durie, Martin B. Buckspan, Elizabeth Tullis, D. Markiewicz, Lap‐Chee Tsui

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF<sub>508</sub>) door Eitan Kerem, Mary Corey, Batsheva Kerem, Johanna M. Rommens, D. Markiewicz, Henry Levison, Lap‐Chee Tsui, Peter R. Durie

Paraoxonase-2 Gene (<i>PON2</i>) G148 Variant Associated with Elevated Fasting Plasma Glucose in Noninsulin-Dependent Diabetes Mellitus<sup>1</sup> door Robert A. Hegele, Philip W. Connelly, Stephen W. Scherer, Anthony J. Hanley, Stewart B. Harris, Lap‐Chee Tsui, Bernard Zinman

Identification of the Cystic Fibrosis Gene: Genetic Analysis door Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan, D. Markiewicz, Tara Cox, Aravinda Chakravarti, Manuel Buchwald, Lap-Chee Tsui

Molecular Cytogenetic Delineation of Deletions and Translocations Involving Chromosome Band 7q22 in Myeloid Leukemias door Konstanze Fischer, Stefan Fröhling, Stephen W. Scherer, Jill M. Brown, Claudia Scholl, Stephan Stilgenbauer, Lap-Chee Tsui, Peter Lichter, Hartmut Döhner

Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and<b><i>In Vivo</i></b>Transepithelial Potentials door Michael Wilschanski, Annie Dupuis, Lynda Ellis, Keith Jarvi, Julian Zielenski, Elizabeth Tullis, Sheelagh Martin, Mary Corey, Lap‐Chee Tsui, Peter R. Durie

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions door Paul Linsdell, Joseph A. Tabcharani, Johanna M. Rommens, Yue-xian Hou, Xiu-Bao Chang, Lap-Chee Tsui, John R. Riordan, John W. Hanrahan

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer door Mitchell L. Drumm, Heidi A. Pope, William Cliff, Johanna M. Rommens, Sheila A. Marvin, Lap-Chee Tsui, Francis S. Collins, Raymond A. Frizzell, James M. Wilson

Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis door Wanda K. Lemna, Gerald L. Feldman, Batsheva Kerem, Susan Fernbach, Elaine P. Zevkovich, William E. O’Brien, John R. Riordan, Francis S. Collins, Lap‐Chee Tsui, Arthur L. Beaudet

Zoekresultaten - 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 door Lap Chee Tsui

A suggested nomenclature for designating mutations door Arthur L. Beaudet, Lap‐Chee Tsui

Posttranscriptional clearance of hepatitis B virus RNA by cytotoxic T lymphocyte-activated hepatocytes. door Lap‐Chee Tsui, Luca G. Guidotti, Tetsuya Ishikawa, Francis V. Chisari

Analysis of the mouse γ-crystallin gene family: assignment of multiple cDNAs to discrete genomic sequences and characterization of a representative gene door Si Lok, Lap‐Chee Tsui, Toshimichi Shinohara, Joram Piatigorsky, R. Gold, Martin L. Breitman

Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability door Asaf Hellman, Ayelet Rahat, Stephen W. Scherer, Ariel Darvasi, Lap‐Chee Tsui, Batsheva Kerem

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome door Xavier Estivill, Joseph Cheung, Miguel Angel Pujana, Kazuhiko Nakabayashi, Stephen W. Scherer, Lap‐Chee Tsui

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease door Garry R. Cutting, Laura Kasch, Beryl J. Rosenstein, Lap-Chee Tsui, Haig H. Kazazian, Stylianos E. Antonarakis

Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome door Lucy R. Osborne, Sylvia Soder, Xiaomei Shi, Barbara R. Pober, Teresa Costa, Stephen W. Scherer, Lap‐Chee Tsui

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence door Joseph Cheung, Xavier Estivill, Razi Khaja, Jeffrey R. MacDonald, Ken S. Lau, Lap‐Chee Tsui, Stephen W. Scherer

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia door Keith Jarvi, Julian Zielenski, Michael Wilschanski, Peter R. Durie, Martin B. Buckspan, Elizabeth Tullis, D. Markiewicz, Lap‐Chee Tsui

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF<sub>508</sub>) door Eitan Kerem, Mary Corey, Batsheva Kerem, Johanna M. Rommens, D. Markiewicz, Henry Levison, Lap‐Chee Tsui, Peter R. Durie

Paraoxonase-2 Gene (<i>PON2</i>) G148 Variant Associated with Elevated Fasting Plasma Glucose in Noninsulin-Dependent Diabetes Mellitus<sup>1</sup> door Robert A. Hegele, Philip W. Connelly, Stephen W. Scherer, Anthony J. Hanley, Stewart B. Harris, Lap‐Chee Tsui, Bernard Zinman

Identification of the Cystic Fibrosis Gene: Genetic Analysis door Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan, D. Markiewicz, Tara Cox, Aravinda Chakravarti, Manuel Buchwald, Lap-Chee Tsui

Molecular Cytogenetic Delineation of Deletions and Translocations Involving Chromosome Band 7q22 in Myeloid Leukemias door Konstanze Fischer, Stefan Fröhling, Stephen W. Scherer, Jill M. Brown, Claudia Scholl, Stephan Stilgenbauer, Lap-Chee Tsui, Peter Lichter, Hartmut Döhner

Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and<b><i>In Vivo</i></b>Transepithelial Potentials door Michael Wilschanski, Annie Dupuis, Lynda Ellis, Keith Jarvi, Julian Zielenski, Elizabeth Tullis, Sheelagh Martin, Mary Corey, Lap‐Chee Tsui, Peter R. Durie

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions door Paul Linsdell, Joseph A. Tabcharani, Johanna M. Rommens, Yue-xian Hou, Xiu-Bao Chang, Lap-Chee Tsui, John R. Riordan, John W. Hanrahan

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer door Mitchell L. Drumm, Heidi A. Pope, William Cliff, Johanna M. Rommens, Sheila A. Marvin, Lap-Chee Tsui, Francis S. Collins, Raymond A. Frizzell, James M. Wilson

Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis door Wanda K. Lemna, Gerald L. Feldman, Batsheva Kerem, Susan Fernbach, Elaine P. Zevkovich, William E. O’Brien, John R. Riordan, Francis S. Collins, Lap‐Chee Tsui, Arthur L. Beaudet

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