Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Slides:



Advertisements
Similar presentations
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,
Advertisements

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thevenon, Mathieu Milh, François.
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates? Antonio Torroni, Chiara Rengo, Valentina Guida, Fulvio Cruciani, Daniele Sellitto,
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections.
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet,
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.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
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,
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.
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.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Dissecting Streptavidin-Biotin Interaction with a Laminar Flow Chamber Anne Pierres, Dominique Touchard, Anne-Marie Benoliel, Pierre Bongrand Biophysical.
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,
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Valerie A.
How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages (December 2007) DOI: /j.ijsu
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
The Trimmed-Haplotype Test for Linkage Disequilibrium
Anna Middleton, J. Hewison, R.F. Mueller 
Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations  Ulla Lenkkeri, Minna Männikkö,
Chen Yao, Roby Joehanes, Andrew D
Genetic Landscape of Eurasia and “Admixture” in Uyghurs
Anna Middleton, J. Hewison, R.F. Mueller 
Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Genetics, Individuality, and Medicine in the 21st Century*
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome  Estelle Colin,
XMCPDT Does Have Correct Type I Error Rates
GeneTests: Integrating Genetic Services into Patient Care*
Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher 
Dan-Yu Lin, Zheng-Zheng Tang  The American Journal of Human Genetics 
The SNP Endgame: A Multidisciplinary Approach*
Family-Based Tests of Association in the Presence of Linkage
Minutes of the Board of Directors Meeting
Erratum The American Journal of Human Genetics
Volume 69, Issue 12, Pages (June 2006)
Society for Investigative Dermatology 2010 Meeting Minutes
Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond 
Wei Pan, Il-Youp Kwak, Peng Wei  The American Journal of Human Genetics 
Research Snippets Journal of Investigative Dermatology
Victor Almon McKusick, MD, 1921–2008, In Memoriam
Reviewer Acknowledgment
Volume 71, Issue 4, Pages (February 2007)
Journal of Vascular Surgery  Volume 34, Issue 6, Pages (December 2001)
Research Snippets from the British Journal of Dermatology
Passing the torch The Journal of Thoracic and Cardiovascular Surgery
Volume 66, Issue 2, Pages (August 2004)
Discussion The Journal of Thoracic and Cardiovascular Surgery
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
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
The Size Distribution of Homozygous Segments in the Human Genome
Presentation transcript:

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie-Claire Gubler, Zelal Ekinci, Michel Tsimaratos, Brigitte Chabrol, Nathalie Boddaert, Alain Verloes, Arnaud Chevrollier, Naig Gueguen, Valérie Desquiret-Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoit Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac The American Journal of Human Genetics Volume 95, Issue 6, Pages (December 2014) DOI: /j.ajhg Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 5 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 6 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 7 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Feedback: Privacy Policy Feedback
Do Not Sell My Personal Information
About project: SlidePlayer Terms of Service

© 2025 SlidePlayer.com. Inc. All rights reserved.