Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia Bassem A. Bejjani, Richard.

Slides:

Advertisements

Similar presentations

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

Advertisements

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.

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,

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,

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.

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.

X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye Darryl Y. Nishimura, Charles.

Contrast Inversion in the Epifluorescence of Cholesterol-Phospholipid Monolayers T.M. Okonogi, H.M. McConnell Biophysical Journal Volume 86, Issue 2, Pages.

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.

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.

Identification of Novel Candidate Oncogenes and Tumor Suppressors in Malignant Pleural Mesothelioma Using Large-Scale Transcriptional Profiling Gavin J.

Genetic testing for high-risk colon cancer patients1 William M. Grady Gastroenterology Volume 124, Issue 6, Pages (May 2003) DOI: /S (03)

Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,

Low-Dose Aspirin in Patients with Stable Cardiovascular Disease: A Meta-analysis Jeffrey S. Berger, MD, MS, David L. Brown, MD, Richard C. Becker, MD The.

Agarose-Dextran Gels as Synthetic Analogs of Glomerular Basement Membrane: Water Permeability Jeffrey A. White, William M. Deen Biophysical Journal Volume.

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

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

Risk of Pain Medication Misuse After Spinal Cord Injury: The Role of Substance Use, Personality, and Depression Jillian M.R. Clark, Yue Cao, James S.

National Guidelines for Nursing Delegation

The Trimmed-Haplotype Test for Linkage Disequilibrium

Anna Middleton, J. Hewison, R.F. Mueller

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Anna Middleton, J. Hewison, R.F. Mueller

Daniel J. Schaid, Charles M. Rowland, David E. Tines, Robert M

Human Diallelic Insertion/Deletion Polymorphisms

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

Evolving Gene Therapy in Primary Immunodeficiency

Linkage Thresholds for Two-stage Genome Scans

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

XMCPDT Does Have Correct Type I Error Rates

Mithra L. Narasimhan, M.B.B.S., Ahmed Khattab, M.D.

Malcolm O. Perry, MD, Richard Kempczinski, MD

Recurrent thoracic outlet syndrome

GeneTests: Integrating Genetic Services into Patient Care*

Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease Richard Alan Lewis, Noah F.

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

Introductory Speech for Sir David Weatherall*

Support Your Specialty

The SNP Endgame: A Multidisciplinary Approach*

Erratum The American Journal of Human Genetics

Volume 26, Issue 2, Pages (February 2018)

Benjamin A. Rybicki, Robert C. Elston

Volume 17, Issue 2, Pages (February 1950)

Volume 69, Issue 12, Pages (June 2006)

Volume 69, Issue 3, Pages (February 2006)

674. Molecular, Biochemical and Biomechanical Analysis of Articular Cartilage Repaired with Genetically Modified Chondrocytes Expressing Insulin-Like.

Society for Investigative Dermatology 2010 Meeting Minutes

Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond

Frank C. Spencer, MD, FACS, pioneering cardiothoracic surgeon

Ethnicity and Human Genetic Linkage Maps

Reviewer Acknowledgment

Genetic Influences on Human Body Odor: From Genes to the Axillae

Discussion The Journal of Thoracic and Cardiovascular Surgery

Volume 4, Issue 1, Pages 2-3 (February 2006)

Detection and Integration of Genotyping Errors in Statistical Genetics

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

A Chromosomal Deletion Map of Human Malformations

Journal changes and initiatives

Presentation transcript:

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia Bassem A. Bejjani, Richard Alan Lewis, Karim F. Tomey, Kent L. Anderson, David K. Dueker, Monzer Jabak, William F. Astle, Brith Otterud, Mark Leppert, James R. Lupski The American Journal of Human Genetics Volume 62, Issue 2, Pages (February 1998) DOI: / Copyright © 1998 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /301725) Copyright © 1998 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /301725) Copyright © 1998 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /301725) Copyright © 1998 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , DOI: ( /301725) Copyright © 1998 The American Society of Human Genetics Terms and Conditions Terms and Conditions