Double Inactivation of NF1 in Tibial Pseudarthrosis

Slides:

Advertisements

Similar presentations

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.

Advertisements

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.

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.

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.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

J. Feyjoo Casero, K.L. Enguez, T.W. Jorgensen, F.J.P. Rodríguez

The Autopsy of Chicken Nuggets Reads “Chicken Little”

Genotyping of DNA Samples Isolated from Formalin-Fixed Paraffin-Embedded Tissues Using Preamplification Renee Baak-Pablo, Vincent Dezentje, Henk-Jan.

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Immunoguided Laser Assisted Microdissection Techniques for DNA Methylation Analysis of Archival Tissue Specimens Franziska C. Eberle, Jeffrey C. Hanson,

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping Adel Shalata, Hanna Mandel, Jochen.

Local injury to the endometrium in controlled ovarian hyperstimulation cycles improves implantation rates Liang Zhou, M.D., Rong Li, M.D., Ph.D., Rong.

Quiz Page March 2008 American Journal of Kidney Diseases

Gynecological and obstetrical outcomes after laparoscopic repair of a cesarean scar defect in a series of 38 women Olivier Donnez, M.D., Ph.D., Jacques.

Inheritance of Osteosarcoma and Paget's Disease of Bone

Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis.

Quiz Page December 2007 American Journal of Kidney Diseases

J. Feyjoo Casero, K.L. Enguez, T.W. Jorgensen, F.J.P. Rodríguez

Martin Steinau, Sonya S. Patel, Elizabeth R. Unger

I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P

Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin

A Combined Linkage-Physical Map of the Human Genome

Genetics of Colonic Polyposis

Genetics, Individuality, and Medicine in the 21st Century*

The Human Androgen Receptor X-Chromosome Inactivation Assay for Clonality Diagnostics of Natural Killer Cell Proliferations Michaël Boudewijns, Jacques.

Quiz Page June 2008 American Journal of Kidney Diseases

The American Journal of Human Genetics

Quiz Page August 2016 American Journal of Kidney Diseases

Javier A. Couto, August Y. Huang, Dennis J. Konczyk, Jeremy A

The Autopsy of Chicken Nuggets Reads “Chicken Little”

Yan Liu, Li Li, Chengtao Li, Zhenmin Zhao

Quiz Page December 2008 American Journal of Kidney Diseases

GeneTests: Integrating Genetic Services into Patient Care*

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease Stephen J. Meltzer, Manfred Wolter Journal.

Comment on “Absence of Senescence-Associated β-Galactosidase Activity in Human Melanocytic Nevi In Vivo” Chrysiis Michaloglou, Maria S. Soengas, Wolter.

Rare Sequence Variation in the Genome Flanking a Short Tandem Repeat Locus Can Lead to a Question of “Nonmaternity” Anne Deucher, Tsoyu Chiang, Iris.

Quiz Page September 2008 American Journal of Kidney Diseases

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Erratum The American Journal of Human Genetics

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

First insights into human acetabular labrum cell metabolism

Masson's tumor in the ulnar artery

Benjamin A. Rybicki, Robert C. Elston

James A. Lautenberger, J. Claiborne Stephens, Stephen J

Developmental validation of a fully automated genotyping assay capable of detecting length and sequence variation in the CODIS STR loci David D. Duncan,

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information Tasha E. Fingerlin,

Quiz Page March 2014 American Journal of Kidney Diseases

Position of the American Dietetic Association: Vegetarian Diets

Lipid-binding proteins in rat and human kidney

Quiz American Journal of Kidney Diseases

Xiangfeng Cui, Helen Feiner, Honghua Li

Quiz Page March 2010 American Journal of Kidney Diseases

Journal of Investigative Dermatology

Quiz Page January 2010 American Journal of Kidney Diseases

‘Krokodil’—A Designer Drug from Across the Atlantic, with Serious Consequences Dany V. Thekkemuriyi, MD, Santhosh Gheevarghese John, MD, Unnikrishnan.

Junaid Haroon, MD, Subroto Paul, MD, MPH

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Alice S. Whittemore, Jerry Halpern

Genetic Anthropology of the Colorectal Cancer–Susceptibility Allele APC I1307K: Evidence of Genetic Drift within the Ashkenazim Bethany L. Niell, Jeffrey.

Quiz Page JULY 2014 American Journal of Kidney Diseases

Presentation transcript:

Double Inactivation of NF1 in Tibial Pseudarthrosis David A. Stevenson, Holly Zhou, Shadi Ashrafi, Ludwine M. Messiaen, John C. Carey, Jacques L. D’Astous, Stephen D. Santora, David H. Viskochil The American Journal of Human Genetics Volume 79, Issue 1, Pages 143-148 (July 2006) DOI: 10.1086/504441 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Lower extremity of patient 1 The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Lower extremity of patient 2 The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 Radiographs of patient 2 showing tibial and fibular bowing, with nonunion of fracture. The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 4 Intraoperative images of PA site of patient 2. A, PA site prior to resection. B, Operative site after resection of tibial PA. The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 5 Area where DNA was extracted for genotyping. A, In patient 1, hematoxylin and eosin stain of a paraffin-embedded section from a tibial PA specimen. B, In patient 2, hematoxylin and eosin stain of a paraffin-embedded section from a tibial PA specimen. The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 6 Allele imbalance genotype analysis of blood DNA and tissue DNA for patient 1, with use of three genetic markers. A, D17S1863, which lies centrometric of the NF1 locus. B, GXALU, intragenic marker (STR in intron 27b). C, 3NF1-1, which lies just telomeric of the NF1 locus. The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 7 Allele imbalance genotype analysis of blood DNA and tissue DNA for patient 2, with use of three genetic markers. A, D17S1863, which lies centrometric of the NF1 locus. B, IN38, intragenic marker (STR in intron 38). C, 3NF1-1, which lies just telomeric of the NF1 locus. The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 8 Sequencing profile of blood (A) and tissue (B) of patient 2. The American Journal of Human Genetics 2006 79, 143-148DOI: (10.1086/504441) Copyright © 2006 The American Society of Human Genetics Terms and Conditions