A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat Rev Endocrinol (2010) 0.95

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45

Diagnostic performance of late-night salivary cortisol measured by automated electrochemiluminescence immunoassay in obese and overweight patients referred to exclude Cushing's syndrome. Endocrine (2012) 2.04

Genomewide suggestive linkage of opioid dependence to chromosome 14q. Hum Mol Genet (2007) 1.54

Genetics of recurrent early-onset major depression (GenRED): significant linkage on chromosome 15q25-q26 after fine mapping with single nucleotide polymorphism markers. Am J Psychiatry (2007) 1.43

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet (2003) 1.25

RseqFlow: workflows for RNA-Seq data analysis. Bioinformatics (2011) 0.95

Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Biol Psychiatry (2008) 0.91

Confirmation of a susceptibility locus for diabetic nephropathy on chromosome 3q23-q24 by association study in Russian type 1 diabetic patients. Diabetes Res Clin Pract (2004) 0.91

Influence of insulin treatment on insulin sensitivity in insulin requiring type 2 diabetes patients. Diabetes Res Clin Pract (2005) 0.91

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum Genet (2004) 0.87

Role of endothelial dysfunction in the development of cardiorenal syndrome in patients with type 1 diabetes mellitus. Diabetes Res Clin Pract (2005) 0.86

The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients. Pediatr Diabetes (2011) 0.86

Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr (2010) 0.84

Combined therapy with L-thyroxine and L-triiodothyronine compared to L-thyroxine alone in the treatment of primary hypothyroidism. Hormones (Athens) (2010) 0.84

Effect of RNA integrity on uniquely mapped reads in RNA-Seq. BMC Res Notes (2014) 0.84

Contraception in perimenopausal women with diabetes mellitus. Gynecol Endocrinol (2006) 0.84

Effect on carbohydrate metabolism and analysis of acceptability (menstrual cycle control) of extended regimens of the vaginally inserted hormone-releasing system 'NuvaRing' as compared with the standard 21/7 regime in reproductive-age women with type 1 diabetes mellitus. Gynecol Endocrinol (2010) 0.80

Assessing the efficacy of endoscopic office olfactory biopsy sites to produce neural progenitor cell cultures for the study of neuropsychiatric disorders. Int Forum Allergy Rhinol (2012) 0.80

Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set. J Autoimmun (2005) 0.78

The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients. Autoimmunity (2005) 0.78

A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. J Clin Endocrinol Metab (2003) 0.76

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. Eur J Hum Genet (2009) 0.76

Contrast-induced nephropathy in patients with type 2 diabetes during coronary angiography: risk-factors and prognostic value. Diabetes Res Clin Pract (2009) 0.76

Transcriptional Gene Silencing of the Autism-Associated Long Noncoding RNA MSNP1AS in Human Neural Progenitor Cells. Dev Neurosci (2016) 0.76

Optimal eigenanalysis for the treatment of aerosols in the retrieval of atmospheric composition from transmission measurements. Appl Opt (2003) 0.75

Response of pure red cell aplasia to cyclophosphamide after failure of mycofenolate mofetil in a patient with polyglandular syndrome type I. J Pediatr Hematol Oncol (2013) 0.75

Lack of association between genetic markers on chromosome 16q22-Q24 and type 1 diabetes in Russian affected families. Croat Med J (2005) 0.75