Human Genome Epidemiology Literature Finder
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Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. Hypertension research : official journal of the Japanese Society of Hypertension 2006 Aug 29 (8): 611-9. Kokubo Yoshihiro, Tomoike Hitonobu, Tanaka Chihiro, Banno Mariko, Okuda Tomohiko, Inamoto Nozomu, Kamide Kei, Kawano Yuhei, Miyata Toshiyu |
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. Molecular genetics and metabolism 2011 1 102 (3): 339-42. Wamelink M M C, Struys E A, Jansen E E W, Blom H J, Vilboux T, Gahl W A, Kömhoff M, Jakobs C, Levtchenko E |
Polymorphisms in LEP and NPY genes modify the response to soluble fibre Plantago ovata husk intake on cardiovascular risk biomarkers. Genes & nutrition 2013 Jan 8 (1): 127-36. Crescenti Anna, Solà Rosa, Valls Rosa M, Anguera Anna, Arola Llu |
Common mutation causes cystinosis in the majority of black South African patients. Pediatric nephrology (Berlin, Germany) 2015 Apr 30 (4): 595-601. Owen E Patricia, Nandhlal Jenisha, Leisegang Felicity, Van der Watt George, Nourse Peter, Gajjar Pri |
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2017 Feb . Ghazi Farideh, Hosseini Rozita, Akouchekian Mansoureh, Teimourian Shahram, Ataei Kachoei Zohreh, Otukesh Hassan, Gahl William A, Behnam Bab |
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. Frontiers in pediatrics 2019 4 7 89. Najafi Maryam, Tamandani Dor Mohammad Kordi, Azarfar Anoush, Bakey Zeineb, Behjati Farkhondeh, Antony Dinu, Schüle Isabel, Sadeghi-Bojd Simin, Karimiani Ehsan Ghayoor, Schmidts Miri |
[Not Available]. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2019 Apr . Bircan R?fat, Gözü Hülya Il?ksu, Ulu Esra, Sar?kaya ?ükran, Gül Aylin Ege, ?irin Duygu Ya?ar, Özçelik Serhat, Aral Ce |
Molecular based newborn screening in Germany: Follow-up for cystinosis. Molecular genetics and metabolism reports 2019 10 21 100514. Hohenfellner Katharina, Bergmann Carsten, Fleige Tobias, Janzen Nils, Burggraf Siegfried, Olgemöller Bernd, Gahl William A, Czibere Ludwig, Froschauer Sonja, Röschinger Wulf, Vill Katharina, Harms Erik, Nennstiel U |
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Human mutation 2021 Aug . Mikó Ágnes, Kaposi Ambrus, Schnabel Karolina, Seidl Dániel, Tory Kálm |
Genetic Landscape of Nephropathic Cystinosis in Russian Children. Frontiers in genetics 2022 5 13 863157. Savostyanov K V, Pushkov A A, Shchagina O A, Maltseva V V, Suleymanov E A, Zhanin I S, Mazanova N N, Fisenko A P, Mishakova P S, Polyakov A V, Balanovska E V, Zinchenko R A, Tsygin A |
Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis. International journal of molecular sciences 2023 2 24 (3): . Nemutlu Emirhan, Ozaltin Fatih, Yabanoglu-Ciftci Samiye, Gulhan Bora, Eylem Cemil Can, Baysal ?pek, Gök-Topak Elif Damla, Ulubayram Kezban, Sezerman Osman Ugur, Ucar Gulberk, K?r Sedef, Topaloglu Rez |
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
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