Genetic Landscape of Nephropathic Cystinosis in Russian Children
暂无分享,去创建一个
A. Fisenko | V. Maltseva | A. Polyakov | O. Shchagina | K. Savostyanov | R. Zinchenko | E. Suleymanov | A. Tsygin | I. Zhanin | E. Balanovska | A. Pushkov | N. Mazanova | P. S. Mishakova
[1] Sankar Subramanian,et al. VCF2PopTree: a client-side software to construct population phylogeny from genome-wide SNPs , 2019, PeerJ.
[2] M. Schmidts,et al. A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East , 2019, Front. Pediatr..
[3] J. Oliveira,et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population , 2018 .
[4] E. Levtchenko,et al. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair , 2018, Nephron.
[5] L. Namazova-Baranova,et al. CHROMATOGRAPHY– MASS SPECTROMETRY AND MOLECULAR GENETIC DIAGNOSIS OF CYSTINOSIS IN RUSSIAN CHILDREN , 2018, Pediatria. Journal named after G.N. Speransky.
[6] B. Behnam,et al. CTNS molecular genetics profile in a Persian nephropathic cystinosis population. , 2017, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.
[7] J. Gangoiti,et al. Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. , 2016, Clinical chemistry.
[8] Artem Zykovich,et al. CTNS mutations in publicly-available human cystinosis cell lines , 2015, Molecular genetics and metabolism reports.
[9] J. Månsson,et al. Epidemiology of lysosomal storage diseases in Sweden , 2014, Acta paediatrica.
[10] M. Al-Haggar. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. , 2013, World journal of nephrology.
[11] M. Vela-Amieva,et al. CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis , 2013, Journal of Pediatric Genetics.
[12] G. Bellenchi,et al. Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin , 2012, Proceedings of the National Academy of Sciences.
[13] L. P. Van den Heuvel,et al. Cystinosis: practical tools for diagnosis and treatment , 2010, Pediatric Nephrology.
[14] L. P. Van den Heuvel,et al. Analysis of CTNS gene transcripts in nephropathic cystinosis , 2010, Pediatric Nephrology.
[15] W. Gahl,et al. Nephropathic cystinosis: late complications of a multisystemic disease , 2008, Pediatric Nephrology.
[16] W. Gahl,et al. Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy , 2007, Annals of Internal Medicine.
[17] A. Chabli,et al. Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry. , 2007, Clinical biochemistry.
[18] S. Lorenzini,et al. Age-related influence on thiol, disulfide, and protein-mixed disulfide levels in human plasma. , 2006, The journals of gerontology. Series A, Biological sciences and medical sciences.
[19] R. Tenconi,et al. Mutational spectrum of the CTNS gene in Italy , 2003, European Journal of Human Genetics.
[20] C. Antignac,et al. Cystinosis: from gene to disease. , 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[21] T. Deufel,et al. Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis , 2002, Human mutation.
[22] M. Huizing,et al. CTNS mutations in African American patients with cystinosis. , 2001, Molecular genetics and metabolism.
[23] H. Blom,et al. The Molecular Basis of Dutch Infantile Nephropathic Cystinosis , 2001, Nephron.
[24] N. Risch,et al. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. , 2000, American journal of human genetics.
[25] E. Green,et al. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. , 2000, Genome research.
[26] W. Gahl,et al. CTNS mutations in patients with cystinosis , 1999, Human mutation.
[27] C. Antignac,et al. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. , 1999, American journal of human genetics.
[28] W. Gahl,et al. CTNS mutations in an American-based population of cystinosis patients. , 1998, American journal of human genetics.
[29] M. Preece,et al. A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. , 1998, Journal of medical genetics.
[30] O. Gribouval,et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis , 1998, Nature Genetics.
[31] G. Thomson,et al. Measuring the strength of associations between HLA antigens and diseases. , 1981, Tissue antigens.
[32] F. Ebbesen,et al. Infantile nephropatic cystinosis in Denmark. , 1976, Danish medical bulletin.
[33] О. П. Рыжкова,et al. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2) , 2019 .
[34] S. Ball,et al. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. , 2015, JIMD reports.
[35] W. Gahl,et al. Genetic basis of cystinosis in Turkish patients: a single-center experience , 2011, Pediatric Nephrology.