Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,

Published byKeanu Winterburn Modified over 2 years ago

Similar presentations

Presentation on theme: "Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,"— Presentation transcript:

1 Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P. Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki The American Journal of Human Genetics Volume 90, Issue 3, Pages 540-549 (March 2012) DOI: 10.1016/j.ajhg.2012.02.002 Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2012 90, 540-549DOI: (10.1016/j.ajhg.2012.02.002) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2012 90, 540-549DOI: (10.1016/j.ajhg.2012.02.002) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

4 Figure 3 The American Journal of Human Genetics 2012 90, 540-549DOI: (10.1016/j.ajhg.2012.02.002) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

5 Figure 4 The American Journal of Human Genetics 2012 90, 540-549DOI: (10.1016/j.ajhg.2012.02.002) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

6 Figure 5 The American Journal of Human Genetics 2012 90, 540-549DOI: (10.1016/j.ajhg.2012.02.002) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Download ppt "Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,"

Similar presentations

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
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.

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.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins 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.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

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.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages 332-384 (March.

2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,

Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy Alexandra Götz, Henna Tyynismaa, Liliya.

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy Alexandra Götz, Henna Tyynismaa, Liliya.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz 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.
Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages 1858-1877 (March 2007) DOI: 10.1529/biophysj.106.095042.

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.

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
2002 Air Medical Transport Industry Awards Air Medical Journal Volume 22, Issue 2, Pages 16-18 (March 2003) DOI: 10.1016/S1067-991X(03)70032-7 Copyright.

2002 Air Medical Transport Industry Awards Air Medical Journal Volume 22, Issue 2, Pages (March 2003) DOI: /S X(03) Copyright.
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.

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 Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population Eveliina Jakkula, Karola Rehnström, Teppo Varilo, Olli P.H.

The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population Eveliina Jakkula, Karola Rehnström, Teppo Varilo, Olli P.H.
Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia Bassem A. Bejjani, Richard.

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia Bassem A. Bejjani, Richard.
CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.

CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.

Similar presentations

Ads by Google