De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex- Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction.

Slides:



Advertisements
Similar presentations
A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,
Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age.
Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee,
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.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A.J. Leegwater,
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.
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.
Cell Traction Forces Direct Fibronectin Matrix Assembly Christopher A. Lemmon, Christopher S. Chen, Lewis H. Romer Biophysical Journal Volume 96, Issue.
Quantifying the Rheological and Hemodynamic Characteristics of Sickle Cell Anemia Huan Lei, George Em Karniadakis Biophysical Journal Volume 102, Issue.
Effects of Milk Powders in Milk Chocolate B. Liang, R.W. Hartel Journal of Dairy Science Volume 87, Issue 1, Pages (January 2004) DOI: /jds.S (04)
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
Low-Dose Aspirin in Patients with Stable Cardiovascular Disease: A Meta-analysis Jeffrey S. Berger, MD, MS, David L. Brown, MD, Richard C. Becker, MD The.
How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages (December 2007) DOI: /j.ijsu
Chapter 1: Definition and classification of CKD Kidney International Supplements Volume 3, Issue 1, Pages (January 2013) DOI: /kisup
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
Patient request for pharmacist counseling and satisfaction: Automated prescription delivery system versus regular pick-up counter Jan D. Hirsch, PhD Journal.
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
The Trimmed-Haplotype Test for Linkage Disequilibrium
Hemoglobin levels and new-onset heart failure in the community
Anna Middleton, J. Hewison, R.F. Mueller 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities  S. Das, C.M. Lese,
Anna Middleton, J. Hewison, R.F. Mueller 
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q  S.C.
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin 
Linkage Thresholds for Two-stage Genome Scans
Genetics, Individuality, and Medicine in the 21st Century*
Practice Paper of the American Dietetic Association: A Systems Approach to Measuring Productivity in Health Care Foodservice Operations    Journal of.
The American Journal of Human Genetics 
Malcolm O. Perry, MD, Richard Kempczinski, MD 
GeneTests: Integrating Genetic Services into Patient Care*
A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family  H.T.F.M. Verzijl, B. van den Helm, B. Veldman,
Historical perspectives of The American Association for Thoracic Surgery: George P. Muller, MD, ScD ( )  Richard N. Edie, MD  The Journal of Thoracic.
A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome  Michel A.A.P. Willemsen, Peter M. Steijlen,
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
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 
A Review of Learner Impact on Faculty Productivity
Osteoarthritis year 2012 in review: biology
Reviewer Acknowledgment
Michiel Bronswijk, Gert De Hertogh, Marc Ferrante  Gastroenterology 
Genetic Influences on Human Body Odor: From Genes to the Axillae
Discussion The Journal of Thoracic and Cardiovascular Surgery
D. Emerick Szilagyi, MD—An appreciation
George D. Lilly 1906–1988 Journal of Vascular Surgery
Alice S. Whittemore, Jerry Halpern 
News & Notes Journal of Allergy and Clinical Immunology
Anna Middleton, J. Hewison, R.F. Mueller 
Quiz page December 2003 American Journal of Kidney Diseases
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
A Chromosomal Deletion Map of Human Malformations
Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy  Richard J.L.F. Lemmers,
Presentation transcript:

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex- Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10 Silvère M. van der Maarel, Giancarlo Deidda, Richard J.L.F. Lemmers, Petra G.M. van Overveld, Michiel van der Wielen, Jane E. Hewitt, Lodewijk Sandkuijl, Bert Bakker, Gert-Jan B. van Ommen, George W. Padberg, Rune R. Frants The American Journal of Human Genetics Volume 66, Issue 1, Pages (January 2000) DOI: / Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , 26-35DOI: ( /302730) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , 26-35DOI: ( /302730) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , 26-35DOI: ( /302730) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Feedback: Privacy Policy Feedback
Do Not Sell My Personal Information
About project: SlidePlayer Terms of Service

© 2024 SlidePlayer.com Inc. All rights reserved.