Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype María Palomares, Alicia Delicado,

Slides:



Advertisements
Similar presentations
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome  Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio.
Advertisements

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
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.
Bumblebees Learn Polarization Patterns James J. Foster, Camilla R. Sharkey, Alicia V.A. Gaworska, Nicholas W. Roberts, Heather M. Whitney, Julian C. Partridge.
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.
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death Mette Nyegaard, Michael T. Overgaard, Mads T. Søndergaard, Marta Vranas,
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
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.
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
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
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
Public Opinion about the Importance of Privacy in Biobank Research
Anna Middleton, J. Hewison, R.F. Mueller 
Molecular Genetics of Pediatric Soft Tissue Tumors
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 
Linkage Thresholds for Two-stage Genome Scans
Genetics, Individuality, and Medicine in the 21st Century*
The American Journal of Human Genetics 
Victor van Berkel, MD, PhD 
XMCPDT Does Have Correct Type I Error Rates
GeneTests: Integrating Genetic Services into Patient Care*
Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher 
Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability  Dean A. Regier, Jan M. Friedman, Carlo.
Genetic Testing for Hereditary Colorectal Cancer: Challenges in Identifying, Counseling, and Managing High-Risk Patients  Elena M. Stoffel, Anu Chittenden 
Introductory Speech for Sir David Weatherall*
The Thinning Top: Why Old People Have Less Hair
A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
American Journal of Kidney Diseases
Journal of Investigative Dermatology 
Volume 69, Issue 12, Pages (June 2006)
Volume 69, Issue 3, Pages (February 2006)
Society for Investigative Dermatology 2010 Meeting Minutes
Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond 
Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics 
Victor Almon McKusick, MD, 1921–2008, In Memoriam
Quiz Page August 2007 American Journal of Kidney Diseases
Reviewer Acknowledgment
Quiz page answers August 2003
Discussion The Journal of Thoracic and Cardiovascular Surgery
Journal of the American College of Surgeons
Characterization of a 8q21
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
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
The Size Distribution of Homozygous Segments in the Human Genome
Presentation transcript:

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. Ruiz-Perez, Sally Ann Lynch, Freddie H. Sharkey, Ann-Charlotte Thuresson, Göran Annerén, Elga F. Belligni, María Luisa Martínez-Fernández, Eva Bermejo, Beata Nowakowska, Anna Kutkowska- Kazmierczak, Ewa Bocian, Ewa Obersztyn, María Luisa Martínez-Frías, Raoul C.M. Hennekam, Pablo Lapunzina The American Journal of Human Genetics Volume 89, Issue 2, Pages (August 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions