Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Published byJoy Wade Modified over 9 years ago

Similar presentations

Presentation on theme: "Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn."— Presentation transcript:

1 Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn Sheridan, David T. Bonthron The American Journal of Human Genetics Volume 74, Issue 5, Pages 954-964 (May 2004) DOI: 10.1086/420796 Copyright © 2004 The American Society of Human Genetics Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2004 74, 954-964DOI: (10.1086/420796) Copyright © 2004 The American Society of Human Genetics Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2004 74, 954-964DOI: (10.1086/420796) Copyright © 2004 The American Society of Human Genetics Terms and Conditions Terms and Conditions

4 Figure 3 The American Journal of Human Genetics 2004 74, 954-964DOI: (10.1086/420796) Copyright © 2004 The American Society of Human Genetics Terms and Conditions Terms and Conditions

5 Figure 4 The American Journal of Human Genetics 2004 74, 954-964DOI: (10.1086/420796) Copyright © 2004 The American Society of Human Genetics Terms and Conditions Terms and Conditions

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

Similar presentations

Mutations in FEZF1 Cause Kallmann Syndrome L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih.

Mutations in FEZF1 Cause Kallmann Syndrome L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
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.

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.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

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 232-237 (January.

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.
X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages 1263-1272.

X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages 3350-3353.

A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

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

Similar presentations

Ads by Google