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Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2012, Volume 49, Issue 1, pp. 58 - 65
Background Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and... 
GERM-CELL CANCER | KITLG | VARIANTS | GENETICS & HEREDITY | ADULT HUMAN TESTIS | GENE-EXPRESSION | ENVIRONMENTAL ASPECTS | CRYPTORCHIDISM | HYPOSPADIAS | SEMEN QUALITY | CARCINOMA IN-SITU | Receptors, Transforming Growth Factor beta - genetics | Testis - metabolism | Bone Morphogenetic Protein 7 - genetics | Humans | Male | Neoplasms, Germ Cell and Embryonal - genetics | Stem Cell Factor - genetics | Case-Control Studies | Protein Interaction Maps | Adult | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Testicular Neoplasms - genetics | Stem Cell Factor - metabolism | Gonadal Dysgenesis - genetics | Testicular Neoplasms - metabolism | Proteoglycans - metabolism | Genotype | Neoplasms, Germ Cell and Embryonal - metabolism | Genetic Markers | Linkage Disequilibrium | Testis - pathology | Receptors, Transforming Growth Factor beta - metabolism | Bone Morphogenetic Protein 7 - metabolism | Polymorphism, Single Nucleotide | Gonadal Dysgenesis - metabolism | Proteoglycans - genetics | Cohort Studies | Genomes | Research | systems biology | developmental | TDS | GWAS | chromosomal | infertility | oncology | genetic epidemiology | cancer: urological | epidemiology | genome-wide | genetics | testis cancer | reproductive medicine | Complex Traits | 1506 | diabetes | endocrinology | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0176720
Mutations in NR5A1 have been reported as a frequent cause of 46, XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from... 
GENE-MUTATIONS | HETEROZYGOUS MUTATION | ADRENAL INSUFFICIENCY | HOMOZYGOUS MUTATION | MULTIDISCIPLINARY SCIENCES | SEX DEVELOPMENT | 46,XY PATIENTS | STEROIDOGENIC FACTOR-I | OVARIAN INSUFFICIENCY | MISSENSE MUTATIONS | NUCLEAR RECEPTOR | Gonadal Dysgenesis - physiopathology | Follow-Up Studies | Gonadal Dysgenesis - genetics | Humans | Steroidogenic Factor 1 - genetics | Male | T-Box Domain Proteins - genetics | Phenotype | Gonadal Dysgenesis - therapy | Adolescent | Female | HeLa Cells | Mutation | Steroidogenic Factor 1 - metabolism | Child | Gonadal disorders | Development and progression | Genetic aspects | Chromosome abnormalities | Gene mutations | Health aspects | Neonates | Disorders | Infants | Gender | Males | Genetic screening | Case studies | Genotype & phenotype | Urinary bladder | Sex determination | Fertility | Surgery | Amenorrhea | Tubes | Genetics | Diagnosis | Deoxyribonucleic acid--DNA | Binding | Spleen | Evaluation | Genitalia | Abnormalities | Phenotypic variations | Vagina | Laparoscopy | Ovaries | Gene expression | Discrimination | Infertility | Mice | Colliculus | Adolescence | Animal models | Transcription | Variability | Genes | Diamonds | Bladder | Biosynthesis | Uterus | Modulation | Division | Mathematical models | Children | Adolescents | Urogenital system | Age | Puberty | Reproductive systems | Genetic disorders | Nucleotide sequence | Diabetes mellitus | Pituitary (anterior) | Histology | Childbirth & labor | Medicine | Testosterone | Adrenocorticotropic hormone | Reproductive system | Differentiation | Gonads | Tumors | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
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