Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,

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

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.
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  
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,
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.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
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.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
Genetic Parameters and Trends in the Chilean Multibreed Dairy Cattle Population* M.A. Elzo, A. Jara, N. Barria Journal of Dairy Science Volume 87, Issue.
Shaping Genetic Alterations in Human Cancer: The p53 Mutation Paradigm Thierry Soussi, Klas G. Wiman Cancer Cell Volume 12, Issue 4, Pages (October.
Celiac Disease Genetics: Current Concepts and Practical Applications Ludvig M. Sollid, Benedicte A. Lie Clinical Gastroenterology and Hepatology Volume.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.
National Guidelines for Nursing Delegation
Montgomery Slatkin  The American Journal of Human Genetics 
Air Pollution and Chest Disease
Anna Middleton, J. Hewison, R.F. Mueller 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Anna Middleton, J. Hewison, R.F. Mueller 
Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families  Turgut Tukel, Daniel Present, Daniel Rachmilewitz,
Human Diallelic Insertion/Deletion Polymorphisms
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Patrick R. Murray  The Journal of Molecular Diagnostics 
Linkage Thresholds for Two-stage Genome Scans
Montgomery Slatkin  The American Journal of Human Genetics 
Genetics of Colonic Polyposis
Genetics, Individuality, and Medicine in the 21st Century*
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
GeneTests: Integrating Genetic Services into Patient Care*
George A. Diaz, Bruce D. Gelb, Neil Risch, Torbjoern G
Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich 
Volume 4, Issue 5, Pages 2-3 (October 2006)
The SNP Endgame: A Multidisciplinary Approach*
Clinical Snippets Journal of Investigative Dermatology
Erratum The American Journal of Human Genetics
American Journal of Kidney Diseases
Quiz Page April 2008 American Journal of Kidney Diseases
Benjamin A. Rybicki, Robert C. Elston 
Volume 17, Issue 2, Pages (February 1950)
Volume 69, Issue 12, Pages (June 2006)
Volume 69, Issue 3, Pages (February 2006)
Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information  Tasha E. Fingerlin,
Society for Investigative Dermatology 2010 Meeting Minutes
Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond 
Quiz Page August 2007 American Journal of Kidney Diseases
Reviewer Acknowledgment
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population  Lisa Edelmann,
Genetic Influences on Human Body Odor: From Genes to the Axillae
Quiz page answers August 2003
This Month in AJKD American Journal of Kidney Diseases
This Month in AJKD American Journal of Kidney Diseases
Discussion The Journal of Thoracic and Cardiovascular Surgery
Detection and Integration of Genotyping Errors in Statistical Genetics
Presidential address: The second-generation vascular surgeon
George D. Lilly 1906–1988 Journal of Vascular Surgery
Alice S. Whittemore, Jerry Halpern 
The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations  Calogera M. Simonaro, Robert.
Anna Middleton, J. Hewison, R.F. Mueller 
Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L
Quiz page December 2003 American Journal of Kidney Diseases
This Month in AJKD American Journal of Kidney Diseases
A Chromosomal Deletion Map of Human Malformations
Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish.
Presentation transcript:

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann, Melissa P. Wasserstein, Ruth Kornreich, Claude Sansaricq, Selma E. Snyderman, George A. Diaz The American Journal of Human Genetics Volume 69, Issue 4, Pages (October 2001) DOI: / Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /323677) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /323677) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /323677) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions