Emery Dreifuss muscular dystrophy
Pillers DAM, Von Bergen NH (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 23, 2016 Category: Genetics & Stem Cells Source Type: research
Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues
Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obst...
Source: Application of Clinical Genetics - February 3, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Non-invasive prenatal testing
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 3, 2016 Category: Genetics & Stem Cells Source Type: research
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research
Wei Zhou,1,2 Yaping Wang1,2 1Department of Medical Genetics, 2Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, People's Republic of China Abstract: Idiopathic pulmonary fibrosis (IPF) is a group of common and lethal forms of idiopathic interstitial pulmonary disease. IPF is characterized by a progressive decline in lung function with a median survival of 2–3 years after diagnosis. Although the pathogenesis of the disease remains unknown, genetic predisposition could play a causal role in IPF. A set of genes have been identified as candidate genes of IPF in the past 20...
Source: Application of Clinical Genetics - February 2, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Candidate genes of idiopathic pulmonary fibrosis
Zhou W, Wang Y (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 1, 2016 Category: Genetics & Stem Cells Source Type: research
Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication
Conclusion: To our knowledge, the specific duplicated sequence between 1p36.11 and p36.21 found in our patient has never been previously reported. We reviewed and compared the clinical, genotyping, and gene microarray results of our patient in order to characterize this novel 1p36 duplication syndrome, which might have contributed to the recurrent scabies infection in this patient.Keywords: immunodeficiency, crusted scabies, cutaneous immunodeficiency, 1p36 duplication (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - January 13, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Cutaneous immunodeficiency and novel 1p36 duplication
Hatter AD, Soler DC, Curtis C, Cooper KD, McCormick TS (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - January 12, 2016 Category: Genetics & Stem Cells Source Type: research
Insights into genetic susceptibility in the etiology of spontaneous preterm birth
Sasha E Parets,1 Anna K Knight,2 Alicia K Smith,1,2 1Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, GA, USA; 2Genetics and Molecular Biology Program, Emory University, Atlanta, GA, USA Abstract: Preterm birth (PTB; <37 weeks of gestation) is a complex disorder, whose etiology is influenced by a variety of factors. A greater understanding of the biological mechanisms that contribute to PTB will facilitate identification of those at increased risk and may inform new treatments. To accomplish this, it is vital to elucidate the heritability patterns of this condition as well...
Source: Application of Clinical Genetics - December 14, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Genetics of PTB
Parets SE, Knight AK, Smith AK (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - December 13, 2015 Category: Genetics & Stem Cells Source Type: research
Sanfilippo syndrome: causes, consequences, and treatments
Anthony O FedeleLysosomal Diseases Research Unit, South Australian Health and Medical Research Institute, Adelaide, SA, AustraliaAbstract: Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate degradation. The primary characteristic of MPS III is the degeneration of the central nervous system, resulting in mental retardation and hyperactivity, typically commencing during childhood. The significance of the order ...
Source: Application of Clinical Genetics - November 24, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Sanfilippo syndrome current perspectives
Fedele AO (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 24, 2015 Category: Genetics & Stem Cells Source Type: research
ROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation
Conclusion: The data suggest the association of ROCK2 with HAPE and MYLK with HAPE and adaptation in Indian population. The outcome has provided new insights into the physiology of HAPE and adaptation. Keywords: adaptation, hypobaric hypoxia, ROCK2, MYLK, high altitude pulmonary edema, SNP (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 1, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Genetic aspects of HAPE
Pandey P, Mohammad G, Singh Y, Qadar Pasha MA (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 1, 2015 Category: Genetics & Stem Cells Source Type: research
Diagnostic and treatment strategies in mucopolysaccharidosis VI
Filippo Vairo,1–3 Andressa Federhen,1,3,4 Guilherme Baldo,1,2,5–7 Mariluce Riegel,1,6 Maira Burin,1 Sandra Leistner-Segal,1,8 Roberto Giugliani1,5,6,81Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; 2Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; 3Clinical Research Group on Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; 4Post-Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; 5Gene Therapy Center, Hospital de Clínicas d...
Source: Application of Clinical Genetics - October 30, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Diagnosis and treatment of MPS VI
Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 30, 2015 Category: Genetics & Stem Cells Source Type: research
