We think you have liked this presentation. If you wish to download it, please recommend it to your friends in any social system. Share buttons are a little bit lower. Thank you!
Presentation is loading. Please wait.
Published byRaegan Burchard
Modified about 1 year ago
Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa Rıza Köksal Özgül, Anna M. Siemiatkowska, Didem Yücel, Connie A. Myers, Rob W.J. Collin, Marijke N. Zonneveld, Avigail Beryozkin, Eyal Banin, Carel B. Hoyng, L. Ingeborgh van den Born, Ron Bose, Wei Shen, Dror Sharon, Frans P.M. Cremers, B. Jeroen Klevering, Anneke I. den Hollander, Joseph C. Corbo 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
Figure 4 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions
Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling,
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1)
Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone- Rod Dystrophy Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh.
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.
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.
Nonlinear Poisson Equation for Heterogeneous Media Langhua Hu, Guo-Wei Wei Biophysical Journal Volume 103, Issue 4, Pages (August 2012) DOI: /j.bpj
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution Edgar Otto, Julia Hoefele, Rainer.
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.
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.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
The Interrelations among Stochastic Pacing, Stability, and Memory in the Heart Hila Dvir, Sharon Zlochiver Biophysical Journal Volume 107, Issue 4, Pages.
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,
Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes Kirk E. Lohmueller, Thomas Sparsø, Qibin Li,
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p Gül Nihan Kavaslar, Suna Önengüt, Orhan Derman, Ahmet Kaya, Aslıhan Tolun.
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,
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy Alexandra Götz, Henna Tyynismaa, Liliya.
Mutations in MED12 Cause X-Linked Ohdo Syndrome Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg,
Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More.
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages
Mutations in FEZF1 Cause Kallmann Syndrome L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F.M. van der.
A Tick Mannose-Binding Lectin Inhibitor Interferes with the Vertebrate Complement Cascade to Enhance Transmission of the Lyme Disease Agent Tim J. Schuijt,
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
Stimulated Gene Expression Profiles as a Blood Marker of Major Depressive Disorder Sabine Spijker, Jeroen S. Van Zanten, Simone De Jong, Brenda W.J.H.
Counter-Intuitive Stochastic Behavior of Simple Gene Circuits with Negative Feedback Tatiana T. Marquez-Lago, Jörg Stelling Biophysical Journal Volume.
Transcription Factor Activity Mapping of a Tissue-Specific In Vivo Gene Regulatory Network Lesley T. MacNeil, Carles Pons, H. Efsun Arda, Gabrielle E.
Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages (March 2007) DOI: /biophysj
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,
How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages (December 2007) DOI: /j.ijsu
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.
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)
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
© 2017 SlidePlayer.com Inc. All rights reserved.