Published in Z Naturforsch C on January 24, 2005
Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med (2009) 1.88
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Detection of Salmonella typhi by polymerase chain reaction: implications in diagnosis of typhoid fever. Infect Genet Evol (2002) 1.05
Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One (2009) 0.98
Clinical, biological and genetic analysis of anorchia in 26 boys. PLoS One (2011) 0.96
AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation. Hum Genet (2007) 0.95
Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation. Mol Hum Reprod (2006) 0.93
Genetically modified crops: detection strategies and biosafety issues. Gene (2013) 0.92
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci U S A (2011) 0.92
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS One (2011) 0.91
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertil Steril (2011) 0.90
Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies. Mol Hum Reprod (2004) 0.90
Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One (2012) 0.89
Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls. PLoS One (2010) 0.87
Increases in inflammatory mediators in DRG implicate in the pathogenesis of painful neuropathy in Type 2 diabetes. Cytokine (2013) 0.86
Genomic instability of the DYZ1 repeat in patients with Y chromosome anomalies and males exposed to natural background radiation. DNA Res (2006) 0.86
Gene therapy for the treatment of sensory neuropathy. Expert Opin Biol Ther (2006) 0.85
Organizational variation of DYZ1 repeat sequences on the human Y chromosome and its diagnostic potentials. DNA Cell Biol (2004) 0.85
Association of the MTHFR A1298C variant with unexplained severe male infertility. PLoS One (2012) 0.85
Transcriptional status of known and novel genes tagged with consensus of 33.15 repeat loci employing minisatellite-associated sequence amplification (MASA) and real-time PCR in water buffalo, Bubalus bubalis. DNA Cell Biol (2006) 0.84
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril (2009) 0.84
Multidimensional approaches in dealing with prostate cancer. Gene (2007) 0.83
Characterization of Smoc-1 uncovers two transcript variants showing differential tissue and age specific expression in Bubalus bubalis. BMC Genomics (2007) 0.82
Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram. PLoS One (2012) 0.82
Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome. Fertil Steril (2013) 0.82
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. Sex Dev (2016) 0.81
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. PLoS One (2013) 0.81
Organizational and expressional uniqueness of a testis-specific mRNA transcript of protooncogene c-kit receptor in water buffalo Bubalus bubalis. DNA Cell Biol (2006) 0.81
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. PLoS One (2013) 0.81
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. PLoS One (2008) 0.81
Organization and differential expression of the GACA/GATA tagged somatic and spermatozoal transcriptomes in Buffalo Bubalus bubalis. BMC Genomics (2008) 0.81
Molecular mining of GGAA tagged transcripts and their expression in water buffalo Bubalus bubalis. Gene (2011) 0.80
Chromosomal localization, copy number assessment, and transcriptional status of BamHI repeat fractions in water buffalo Bubalus bubalis. DNA Cell Biol (2006) 0.80
Expression of proto-oncogene KIT is up-regulated in subset of human meningiomas. BMC Cancer (2012) 0.80
Genetic integrity of the human Y chromosome exposed to groundwater arsenic. BMC Med Genomics (2010) 0.80
Unilateral cryptorchidism in mice mutant for Ptgds. Hum Mutat (2012) 0.80
Genome-wide search of the genes tagged with the consensus of 33.6 repeat loci in buffalo Bubalus bubalis employing minisatellite-associated sequence amplification. Chromosome Res (2010) 0.79
Expressional dynamics of minisatellite 33.15 tagged spermatozoal transcriptome in Bubalus bubalis. BMC Genomics (2009) 0.79
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development. Eur J Endocrinol (2014) 0.78
A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay. Sex Dev (2014) 0.77
Fate of the human Y chromosome linked genes and loci in prostate cancer cell lines DU145 and LNCaP. BMC Genomics (2013) 0.77
Unique signatures of natural background radiation on human Y chromosomes from Kerala, India. PLoS One (2009) 0.77
Molecular docking uncovers TSPY binds more efficiently with eEF1A2 compared to eEF1A1. J Biomol Struct Dyn (2014) 0.77
Zika Virus-Induced Microcephaly and Its Possible Molecular Mechanism. Intervirology (2017) 0.76
Molecular mining of alleles in water buffalo Bubalus bubalis and characterization of the TSPY1 and COL6A1 genes. PLoS One (2011) 0.76
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. Reprod Biomed Online (2012) 0.76
AZFc region of the Y chromosome shows singular structural organization. Chromosome Res (2010) 0.76
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations. PLoS One (2012) 0.76
Gene therapy for the treatment of diabetic neuropathy. Curr Diab Rep (2008) 0.75
RsaI repetitive DNA in Buffalo Bubalus bubalis representing retrotransposons, conserved in bovids, are part of the functional genes. BMC Genomics (2011) 0.75
Identification of tumor specimens by DNA analysis in a case of histocytological paraffin tissue block swapping. Croat Med J (2011) 0.75
Concurrent Infection with Plasmodium vivax and the Dengue and Chikungunya Viruses in a Paediatric Patient from New Delhi, India in 2016. Intervirology (2017) 0.75
Aetiological factors in mechanical intestinal obstruction. J Ayub Med Coll Abbottabad (2012) 0.75
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome. J Genet (2015) 0.75
Genetic disorders of sex differentiation. Adv Exp Med Biol (2011) 0.75
Gonadal development. Endocr Dev (2014) 0.75
A subset of human gliomas shows over-expression of KIT without its amplification. Gene (2012) 0.75
Expression of proto-oncogene c-kit receptor in rats (Rattus norvegicus) and identification of a mutant mRNA transcript implicated in spermatogenic failure. DNA Cell Biol (2003) 0.75
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development. Sex Dev (2016) 0.75
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development. Sex Dev (2016) 0.75
Misinterpretation of results in medico-legal cases due to microdeletion in the Y-chromosome. Mol Cell Probes (2010) 0.75
Expression of protooncogene c-kit receptor in rat testis and uniqueness of extracellular domain across the species with potential in molecular phylogeny. DNA Cell Biol (2004) 0.75
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center. Eur J Pediatr (2014) 0.75
CAUSES OF DELAYED PRESENTATION OF ACUTE APPENDICITIS AND ITS IMPACT ON MORBIDITY AND MORTALITY. J Ayub Med Coll Abbottabad (2016) 0.75
Dual action spirobicycloimidazolidine-2,4-diones: antidiabetic agents and inhibitors of aldose reductase-an enzyme involved in diabetic complications. Bioorg Med Chem Lett (2012) 0.75
Role of Glycyrrhizin in the Reduction of Inflammation in Diabetic Kidney Disease. Nephron (2017) 0.75
Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism. J Genet (2015) 0.75
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome . Clin Nephrol (2016) 0.75