Results 41 to 50 of about 305,611 (291)

Genotype–Phenotype Correlations [PDF]

Clinical Journal of the American Society of Nephrology, 2010
Classical Mendelian genetics often conjure the image of a well-defined mutation in the DNA sequence that causes a disruption in gene function and characteristic phenotype. However, Mendelian traits can often behave like complex disease traits. One level of complexity is that even a specific mutation may be associated with a wide spectrum of symptoms ...
openaire   +1 more source

Hearing impairment in Stickler syndrome: a systematic review [PDF]

, 2012
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Malfait, Fransiska   +3 more
core   +2 more sources

Nephronophthisis: A review of genotype–phenotype correlation [PDF]

Nephrology, 2018
ABSTRACTNephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end‐stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes.
Luo, Fenglan, Tao, Yu‐Hong
openaire   +2 more sources

Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method. [PDF]

, 2018
Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to cancer
Kim, Byung-Ju, Kim, Sung-Hou
core   +2 more sources

The causal meaning of Fisher's average effect [PDF]

, 2013
In order to formulate the Fundamental Theorem of Natural Selection, Fisher defined the average excess and average effect of a gene substitution. Finding these notions to be somewhat opaque, some authors have recommended reformulating Fisher's ideas in ...
Chow, Carson C., Lee, James J.
core   +1 more source

Comprehensive genotype-phenotype correlation in lissencephaly

Quantitative Imaging in Medicine and Surgery, 2018
Malformations of cortical development (MCD) are a heterogenous group of disorders with diverse genotypic and phenotypic variations. Lissencephaly is a subtype of MCD caused by defect in neuronal migration, which occurs between 12 and 24 weeks of gestation.
Ai Peng, Tan, Wui Khean, Chong, Kshitij, Mankad   +2 more
openaire   +3 more sources

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael, Becker, Felicitas, Dalal, Ashwin B, Dutta, Usha R, Gradek, Gyri, Jamali, Payman, Kahrizi, Kimia, Kalscheuer, Vera M, Korenke, Christoph, Lesca, Gaetan, Marco, Elysa, Marshall, Christian R, Mercier, Sandra, Minassian, Berge A, Najmabadi, Hossein, Scherer, Stephen W, Sherr, Elliott, Suckow, Vanessa, Till, Marianne, Walker, Susan, Wiesener, Antje, Yamamoto, Toshiyuki   +21 more
core  

Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis [PDF]

, 2013
Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers ...
A Parker, AI Catrina, AL Price, Alison Motsinger-Reif, AM van Gestel, Ann W. Morgan, Anne Barton, Anthony G. Wilson, Atsuo Taniguchi, B Devlin, Barbara E. Stranger, BE Stranger, BJ Scallon, C Liu, C Miceli-Richard, Chikashi Terao, Corinne Miceli, Cornelia F. Allaart, D Aeberli, D Plant, D Plant, DL Scott, Dorothee Diogo, EA Stahl, EA Stahl, EJ Toonen, Eli A. Stahl, Elizabeth W. Karlson, FM Batliwalla, Fumihiko Matsuda, Gert Jan Wolbink, GM Cooper, Gosia Trynka, H Canhao, Helena Canhao, Henk-Jan Guchelaar, Hisashi Yamanaka, IB McInnes, Irene E. van der Horst-Bruinsma, J Agnholt, J Cui, J Ernst, J Marchini, J. Bart A. Crusius, Jing Cui, Johan Askling, John D. Isaacs, João Eurico Fonseca, Katsunori Ikari, Kimme L. Hyrich, Koichiro Ohmura, L Klareskog, L Padyukov, Larry W. Moreland, LD Ward, Leonid Padyukov, Lindsey A. Criswell, M Martin, Manik Kuchroo, Marieke E. Doorenspleet, Marieke Herenius, Marieke J. H. Coenen, Mart van de Laar, Maša Umiċeviċ Mirkov, Michael E. Weinblatt, MJ Coenen, ML Prevoo, MM Soliman, Namrata Gupta, Nancy A. Shadick, Niek de Vries, O Stegle, Paul-Peter Tak, Peter K. Gregersen, Philip L. De Jager, PI de Bakker, Piet L. C. M. van Riel, PL De Jager, R Prajapati, Rene E. M. Toes, RM Plenge, Robert M. Plenge, Robert P. Kimberly, S Gudbrandsdottir, S Purcell, S. Louis Bridges, SA Gauthier, Saedis Saevarsdottir, Sara Wedrén, SG Tangye, Shigeki Momohara, Soumya Raychaudhuri, Tom W. J. Huizinga, Towfique Raj, Tsuneyo Mimori, Xavier Mariette, Y Okada, Yukinori Okada   +97 more
core   +8 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Genotype-phenotype correlation in multiple endocrine neoplasia type 2

Clinics, 2012
Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10.
Friedhelm Raue, Karin Frank-Raue
doaj   +1 more source