Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Syndrome and RHO[original query] |
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| Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genetic epidemiology 2001 Jan 20 (1): 129-144. Sharma D, Gupta M, Thelma B |
| Utility of molecular testing for related retinal dystrophies. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6. Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex |
| Heritability of serum resistin and its genetic correlation with insulin resistance-related features in nondiabetic Caucasians. The Journal of clinical endocrinology and metabolism 2006 Jul 91 (7): 2792-5. Menzaghi Claudia, Coco Angelo, Salvemini Lucia, Thompson Ryan, De Cosmo Salvatore, Doria Alessandro, Trischitta Vincen |
| Genetic variants in the leukemia-associated Rho guanine nucleotide exchange factor (ARHGEF12) gene are not associated with T2DM and related parameters in Caucasians (KORA study). European journal of endocrinology / European Federation of Endocrine Societies 2007 Sep 157 (3): R1-5. Holzapfel C, Klopp N, Grallert H, Huth C, Gieger C, Meisinger C, Strassburger K, Giani G, Wichmann H E, Laumen H, Hauner H, Herder C, Rathmann W, Illig |
| Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Investigative ophthalmology & visual science 2008 Dec 49 (12): 5532-9. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, McGee Terri L, Dryja Thaddeus P, Berson Eliot |
| Is fetuin-A/alpha2-Heremans-Schmid glycoprotein associated with the metabolic syndrome in patients with chronic kidney disease? American journal of nephrology 2008 28 (4): 669-76. Axelsson Jonas, Wang Xin, Ketteler Markus, Qureshi Abdul Rashid, Heimbürger Olof, Bárány Peter, Lindholm Bengt, Nordfors Louise, Stenvinkel Pet |
| Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2008 Nov 119 (11): 2455-8. Buoni Sabrina, Zannolli Raffaella, Felice Claudio De, Saponari Simona, Strambi Mirella, Dotti Maria Teresa, Castrucci Elena, Corbini Letizia, Orsi Alessandra, Hayek Jose |
| High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects. The Journal of clinical endocrinology and metabolism 2009 Aug 94 (8): 2872-9. Frederiksen Anja Lisbeth, Jeppesen Tina Dysgaard, Vissing John, Schwartz Marianne, Kyvik Kirsten Ohm, Schmitz Ole, Poulsen Per Løgstrup, Andersen Per Hed |
| Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. Investigative ophthalmology & visual science 2010 Apr 51 (4): 2229-35. Yang Yaping, Zhang Xin, Chen Li Jia, Chiang Sylvia W Y, Tam Pancy O S, Lai Timothy Y Y, Chan Carmen K M, Wang Ningli, Lam Dennis S C, Pang Chi P |
| Manganese superoxide dismutase dimorphism relationship with severity and prognosis in cardiogenic shock due to dilated cardiomyopathy. Free radical research 2011 Apr 45 (4): 379-88. Charniot J C, Sutton A, Bonnefont-Rousselot D, Cosson C, Khani-Bittar R, Giral P, Charnaux N, Albertini J |
| Effect of angiotensin converting enzyme gene I/D polymorphism and its expression on clinical outcome in acute respiratory distress syndrome. Minerva anestesiologica 2013 Aug 79 (8): 861-70. Tsantes A E, Kopterides P, Bonovas S, Bagos P, Antonakos G, Nikolopoulos G K, Gialeraki A, Kapsimali V, Kyriakou E, Kokori S, Dima K, Armaganidis A, Tsangaris |
| Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104. Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo |
| Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease). Rare diseases (Austin, Tex.) 2013 Dec 1 (1): 1. Xie Zhihui, Nagarajan Vijayaraj, Sturdevant Daniel E, Iwaki Shoko, Chan Eunice, Wisch Laura, Young Michael, Nelson Celeste M, Porcella Stephen F, Druey Kirk |
| Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative ophthalmology & visual science 2014 Nov 55 (11): 7369-75. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
| No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area. Genetics and molecular research : GMR 2014 13 (1): 127-33. Li J L, Li Y J, Zhang K J, Lan L, Shi J G, Yang X, Zhang M J, Zhang F C, Gao X |
| Association of Rho/Rho-kinase gene polymorphisms and expressions with obesity-related metabolic syndrome. European review for medical and pharmacological sciences 2015 May 19 (9): 1680-8. Tabur S, Oztuzcu S, Oguz E, Korkmaz H, Eroglu S, Ozkaya M, Demiryürek A |
| Association of Rho-kinase Gene Polymorphisms with Respiratory Distress Syndrome in Preterm Neonates. Pediatrics and neonatology 2016 May . Kaya Gül, Sivasli Ercan, Oztuzcu Serdar, Melekoglu Nuriye A, Ozkara Esma, Sarikabadayi Unal, Demiryürek Abdullah |
| HMSH2 and HMSH6 gene expression profiles in colorectal adenocarcinoma in patients up to 50 years of age. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2016 Jul 83 602-606. Germini Demétrius, Gehrke Flávia, Lira Daniel, Alves Beatriz, Azzalis Lígia, Perez Matheus, Fonseca Fernando, Waisberg Jaqu |
| Relationship Between C-Reactive Protein Serum Concentration and the 1846 C>T (rs1205) Polymorphism in Patients with Acute Coronary Syndrome from Western Mexico. Genetic testing and molecular biomarkers 2017 Mar . Reynoso-Villalpando Gabriela Lizet, Padilla-Gutiérrez Jorge Ramón, Valdez-Haro Angélica, Casillas-Muñoz Fidel, Muñoz-Valle José Francisco, Castellanos-Nuñez Edgar, Chávez-Herrera Juan Carlos, Valle Yemin |
| Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2019 3 15 (3): 375-381. Cielo Christopher M, Duffy Kelly A, Taylor Jesse A, Marcus Carole L, Kalish Jennifer |
| The Role of ROCK in Platelet-Monocyte Collaborative Induction of Thromboinflammation during Acute Coronary Syndrome. Thrombosis and haemostasis 2020 Sep . Hsu Ling-Wei, Chen Po-Wei, Chang Wei-Ting, Lee Wen-Huang, Liu Ping-Y |
| Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review. BMC medical genomics 2021 9 14 (1): 219. Zhang Yu, Deng Linxia, Chen Xiaohong, Hu Yingjie, Chen Yaxian, Chen Kang, Zhou Jianh |
| Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. Annals of clinical and translational neurology 2021 5 8 (6): 1200-1211. Gramegna Laura L, Evangelisti Stefania, Di Vito Lidia, La Morgia Chiara, Maresca Alessandra, Caporali Leonardo, Amore Giulia, Talozzi Lia, Bianchini Claudio, Testa Claudia, Manners David N, Cortesi Irene, Valentino Maria L, Liguori Rocco, Carelli Valerio, Tonon Caterina, Lodi Raffae |
| USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 2021 2 11 (2): . Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Savastano Maria Cristina, Minnella Angelo Maria, Maceroni Martina, Midena Giulia, Ziccardi Lucia, Parisi Vincenzo, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Rizzo Stanisl |
| Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Annals of clinical and translational neurology 2021 1 8 (3): 704-710. Licchetta Laura, Ferri Lorenzo, La Morgia Chiara, Zenesini Corrado, Caporali Leonardo, Lucia Valentino Maria, Minardi Raffaella, Fulitano Daniela, Di Vito Lidia, Mostacci Barbara, Alvisi Lara, Avoni Patrizia, Liguori Rocco, Tinuper Paolo, Bisulli Francesca, Carelli Valer |
| Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age. Frontiers in medicine 2022 11 9 953643. Günthner Roman, Knipping Lea, Jeruschke Stefanie, Satanoskij Robin, Lorenz-Depiereux Bettina, Hemmer Clara, Braunisch Matthias C, Riedhammer Korbinian M, ?omi? Jasmina, Tönshoff Burkhard, Tasic Velibor, Abazi-Emini Nora, Nushi-Stavileci Valbona, Buiting Karin, Gjorgjievski Nikola, Momirovska Ana, Patzer Ludwig, Kirschstein Martin, Gross Oliver, Lungu Adrian, Weber Stefanie, Renders Lutz, Heemann Uwe, Meitinger Thomas, Büscher Anja K, Hoefele Jul |
| Identification of genetic loci that overlap between schizophrenia and metabolic syndrome. Psychiatry research 2022 11 318 114947. Lv Honggang, Li Juan, Gao Kai, Zeng Lingsi, Xue Ranran, Liu Xia, Zhou Cong, Yue Weihua, Yu H |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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