Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D

Slides:

Advertisements

Similar presentations

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Advertisements

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Genetic testing for high-risk colon cancer patients1 William M. Grady Gastroenterology Volume 124, Issue 6, Pages (May 2003) DOI: /S (03)

Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers Gloria H. Su, Ralph H. Hruban, Ravi K. Bansal,

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa Alan J. Mears, Linn Gieser, Denise.

Tumor Microsatellite Instability in Early Onset Gastric Cancer

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Identification and Characterization of Optimal Gene Expression Markers for Detection of Breast Cancer Metastasis John Backus, Todd Laughlin, Yixin Wang,

Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds Rodney.

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

The APC I1307K Allele and BRCA-Associated Ovarian Cancer Risk

Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects Susan M. Farrington, Albert Tenesa, Rebecca Barnetson, Alice Wiltshire,

Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4 Katrina A.B. Goddard, John S. Witte, Brian K.

Linkage Thresholds for Two-stage Genome Scans

Genetics of Colonic Polyposis

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

Genetics, Individuality, and Medicine in the 21st Century*

Tamara Rogers, David Chandler, Dora Angelicheva, P. K

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families Catarina Santos, Ana Peixoto,

The American Journal of Human Genetics

Hilmi Ozcelik, Xuejiang Shi, Martin C

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Celia Moss, Amalia Martinez-Mir, HaMut.

XMCPDT Does Have Correct Type I Error Rates

Jessica Yingling, Kazuhito Toyo-oka, Anthony Wynshaw-Boris

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome The.

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck.

Laurent Gouya Journal of Investigative Dermatology

John D. Rioux, Valerie A. Stone, Mark J

A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with.

Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors Ana.

Christoph Lange, Nan M. Laird The American Journal of Human Genetics

Analysis of hMLH1 and hMSH2 Gene Dosage Alterations in Hereditary Nonpolyposis Colorectal Cancer Patients by Novel Methods Linnea M. Baudhuin, Ming Mai,

Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4 Katrina A.B. Goddard, John S. Witte, Brian K.

No Gene Is an Island: The Flip-Flop Phenomenon

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

Erratum The American Journal of Human Genetics

Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds Rodney.

Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain Karl W. Broman, James L. Weber The American.

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements Beatrice Schmucker, Michael Krawczak

John Scott Maul, Randall W. Burt, Lisa A. Cannon–Albright

Wook Lew Journal of Investigative Dermatology

A Second Recombination Hotspot Associated with SHOX Deletions

Xiangfeng Cui, Helen Feiner, Honghua Li

Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X- Linked Liver Glycogenosis Type I and II Jan Hendrickx, Philip Lee, James.

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Feras M. Hantash, Joy B. Redman,

Mapping of the Major Psoriasis-Susceptibility Locus (PSORS1) in a 70-Kb Interval around the Corneodesmosin Gene (CDSN) Sandro Orrù, Erika Giuressi, Carlo.

Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations Milhan Telatar, Sharon Teraoka,

Mutations in CHEK2 Associated with Prostate Cancer Risk

Detection and Integration of Genotyping Errors in Statistical Genetics

C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Alice S. Whittemore, Jerry Halpern

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X- Linked Hypohidrotic Ectodermal Dysplasia Mutations Alex W. Monreal,

A Chromosomal Deletion Map of Human Malformations

Rogerio C. Lilenbaum, MD, John Cashy, PhD, Thomas A

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Presentation transcript:

Systematic Analysis of hMSH2 and hMLH1 in Young Colon Cancer Patients and Controls Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D. Burczak, David J. Robbins, Malcolm G. Dunlop The American Journal of Human Genetics Volume 63, Issue 3, Pages 749-759 (September 1998) DOI: 10.1086/301996 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Long-range PCR of hMLH1 exons 12–14 (∼15 kb). Patient 817 shows a genomic deletion of ∼3 kb that includes exon 13 in the hMLH1 gene. The asterisks (*) indicate four additional affected or at-risk family members who carry the same deletion allele detectable by long-range PCR and the exon 13 deletion detected by reverse transcription–PCR analysis. Lane M, Genomic size marker. The American Journal of Human Genetics 1998 63, 749-759DOI: (10.1086/301996) Copyright © 1998 The American Society of Human Genetics Terms and Conditions