Presentation is loading. Please wait.

Presentation is loading. Please wait.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848  Magdalena.

Published by蟹 路 Modified over 5 years ago

Similar presentations

Presentation on theme: "Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848  Magdalena."— Presentation transcript:

1 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Barnett, Troy A. Becker, Shay Ben-Shachar, Debora R. Bertola, Jaishri O. Blakeley, Emma M.M. Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S. Cunha, Mitch Cunningham, Maria D. D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D. Gareth R. Evans, Patricia Galvin-Parton, Jaya K. George- Abraham, Karen W. Gripp, Jose Guevara-Campos, Neil A. Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J. Jones, Beth A. Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S. Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R. Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R. Korf, Eric Legius, Ludwine M. Messiaen  The American Journal of Human Genetics  Volume 102, Issue 1, Pages (January 2018) DOI: /j.ajhg Copyright © 2017 The Authors Terms and Conditions

2 Figure 1 Spectrum of Missense Mutations Affecting NF1 Codons 844–848 in the Cohort of 129 Probands and 33 Relatives Shown are 129 probands (A) and 33 relatives (B). Each number in circle corresponds with the total number of individuals heterozygous for a specific mutation. The black dotted lines on the panels present the region 844–848. The figure was prepared using the ProteinPaint application.44 The American Journal of Human Genetics  , 69-87DOI: ( /j.ajhg ) Copyright © 2017 The Authors Terms and Conditions

Download ppt "Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848  Magdalena."

Similar presentations

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
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.
What We Talk About When We Talk About Fat Evan D. Rosen, Bruce M. Spiegelman Cell Volume 156, Issue 1, Pages 20-44 (January 2014) DOI: 10.1016/j.cell.2013.12.012.

What We Talk About When We Talk About Fat Evan D. Rosen, Bruce M. Spiegelman Cell Volume 156, Issue 1, Pages (January 2014) DOI: /j.cell
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.
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.
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,
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.
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.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

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.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
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.
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,
Cell Traction Forces Direct Fibronectin Matrix Assembly Christopher A. Lemmon, Christopher S. Chen, Lewis H. Romer Biophysical Journal Volume 96, Issue.

Cell Traction Forces Direct Fibronectin Matrix Assembly Christopher A. Lemmon, Christopher S. Chen, Lewis H. Romer Biophysical Journal Volume 96, Issue.
Katarzyna Bryc, Eric Y. Durand, J

Katarzyna Bryc, Eric Y. Durand, J
Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases  Attila Kumánovics, Carl T. Wittwer, Robert.

Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases  Attila Kumánovics, Carl T. Wittwer, Robert.
Michael Dannemann, Janet Kelso  The American Journal of Human Genetics 

Michael Dannemann, Janet Kelso  The American Journal of Human Genetics 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Public Opinion about the Importance of Privacy in Biobank Research

Public Opinion about the Importance of Privacy in Biobank Research
Katarzyna Bryc, Eric Y. Durand, J

Katarzyna Bryc, Eric Y. Durand, J

Similar presentations

Ads by Google