Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira,

Slides:



Advertisements
Similar presentations
Mechanical Stability and Reversible Fracture of Vault Particles Aida Llauró, Pablo Guerra, Nerea Irigoyen, José F. Rodríguez, Núria Verdaguer, Pedro J.
Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Counter-Intuitive Stochastic Behavior of Simple Gene Circuits with Negative Feedback Tatiana T. Marquez-Lago, Jörg Stelling Biophysical Journal Volume.
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,
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.
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.
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.
Contrast Inversion in the Epifluorescence of Cholesterol-Phospholipid Monolayers T.M. Okonogi, H.M. McConnell Biophysical Journal Volume 86, Issue 2, Pages.
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,
Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages (March 2007) DOI: /biophysj
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.
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
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Anna Middleton, J. Hewison, R.F. Mueller 
P. Y. W. Man, P. G. Griffiths, D. T. Brown, N. Howell, D. M
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 
I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P
Linkage Thresholds for Two-stage Genome Scans
Genetics, Individuality, and Medicine in the 21st Century*
The American Journal of Human Genetics 
GeneTests: Integrating Genetic Services into Patient Care*
Palmar hyperhidrosis: Evidence of genetic transmission
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4  Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana.
Support Your Specialty
Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families  Laurent Cavalier, Karim.
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
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)
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
Reviewer Acknowledgment
Genetic Influences on Human Body Odor: From Genes to the Axillae
Michelle Maria Pietzak  Gastroenterology 
Table of contents The Journal for Nurse Practitioners
Calvin B. Ernst, MD  Journal of Vascular Surgery 
This Month in AJKD American Journal of Kidney Diseases
Discussion The Journal of Thoracic and Cardiovascular Surgery
Journal of the American College of Surgeons
Volume 4, Issue 1, Pages 2-3 (February 2006)
Detection and Integration of Genotyping Errors in Statistical Genetics
Alice S. Whittemore, Jerry Halpern 
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Anna Middleton, J. Hewison, R.F. Mueller 
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
Financial crisis, austerity, and health in Europe
Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity  Maria do Céu Moreira,
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena.
Presentation transcript:

Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka, Pedro Mendonça, José Barros, Paula Coutinho, Jorge Sequeiros, Michel Koenig The American Journal of Human Genetics Volume 68, Issue 2, Pages (February 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: ( /318191) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /318191) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /318191) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions