Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel  Hagit Toledano-Alhadef, Lina Basel-Vanagaite, Nurit.

Slides:



Advertisements
Similar presentations
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
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.
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,
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.
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,
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,
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.
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Nonlinear Poisson Equation for Heterogeneous Media Langhua Hu, Guo-Wei Wei Biophysical Journal Volume 103, Issue 4, Pages (August 2012) DOI: /j.bpj
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
National Guidelines for Nursing Delegation
Anna Middleton, J. Hewison, R.F. Mueller 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Anna Middleton, J. Hewison, R.F. Mueller 
An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency  Sandra J. Hasstedt, Edwin G. Bovill, Peter.
CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies 
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Linkage Thresholds for Two-stage Genome Scans
Genetics, Individuality, and Medicine in the 21st Century*
The American Journal of Human Genetics 
Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population  Isabel Fernandez-Carvajal, Paulina Walichiewicz,
Multiplex Bead Suspension Array for Screening Neisseria gonorrhoeae Antibiotic Resistance Genetic Determinants in Noncultured Clinical Samples  Sergey.
GeneTests: Integrating Genetic Services into Patient Care*
A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter  Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar.
Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher 
Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness  Yelena Bykhovskaya, Xavier Estivill, Kent Taylor, Tieu Hang, Melanie Hamon,
The assessment of cost effectiveness and the effectiveness of cost assessment in cardiothoracic surgery  Vinay Badhwar, MD  The Journal of Thoracic and.
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
American Journal of Kidney Diseases
Benjamin A. Rybicki, Robert C. Elston 
Volume 69, Issue 12, Pages (June 2006)
Volume 69, Issue 3, Pages (February 2006)
Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs
Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information  Tasha E. Fingerlin,
Table of contents The Journal for Nurse Practitioners
Society for Investigative Dermatology 2010 Meeting Minutes
Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond 
Position of the American Dietetic Association: Vegetarian Diets
Alexander Liede, Imtiaz A
Quiz Page August 2007 American Journal of Kidney Diseases
Reviewer Acknowledgment
Table of contents The Journal for Nurse Practitioners
Severe Acne Vulgaris and Tobacco Smoking in Young Men
Journal of Investigative Dermatology
Quiz page answers August 2003
This Month in AJKD American Journal of Kidney Diseases
The origins of open heart surgery at the University of Minnesota 1951 to 1956  Richard A. DeWall, MD  The Journal of Thoracic and Cardiovascular Surgery 
Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations  Nathan Pankratz, William C. Nichols, Sean K.
Discussion The Journal of Thoracic and Cardiovascular Surgery
Angiotensin I-Converting Enzyme
BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits
Journal of the American College of Surgeons
Alice S. Whittemore, Jerry Halpern 
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
Presentation transcript:

Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel  Hagit Toledano-Alhadef, Lina Basel-Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat  The American Journal of Human Genetics  Volume 69, Issue 2, Pages 351-360 (August 2001) DOI: 10.1086/321974 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Flowchart of fragile-X screening results The American Journal of Human Genetics 2001 69, 351-360DOI: (10.1086/321974) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Maternal allele expansion in the fetus The American Journal of Human Genetics 2001 69, 351-360DOI: (10.1086/321974) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Cost-effectiveness of the screening program The American Journal of Human Genetics 2001 69, 351-360DOI: (10.1086/321974) Copyright © 2001 The American Society of Human Genetics Terms and Conditions