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4 |
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Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads.
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Abnormal sexual differentiation and neoplasia.
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Verp MS...Simpson JL
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Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.
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8 |
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.
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SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome.
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TSPY expression is variably altered in transgenic mice with testicular feminization.
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Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
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Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ.
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Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers.
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New evidence for the origin of intracranial germ cell tumours from primordial germ cells: expression of pluripotency and cell differentiation markers.
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CK2-dependent C-terminal phosphorylation at T300 directs the nuclear transport of TSPY protein.
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Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary.
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17 |
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
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Ruf RG...APN Study Group
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18 |
TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.
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19 |
A girl with bilateral ovarian tumours: Frasier syndrome.
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20 |
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
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Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome.
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22 |
Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments.
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23 |
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.
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24 |
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
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25 |
Gonadoblastoma, testicular and prostate cancers, and the TSPY gene.
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Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism.
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Gonadoblastoma: immunohistochemical localization of Müllerian-inhibiting substance, inhibin, WT-1, and p53.
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28 |
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
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XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.
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WT1 Disorder
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Disorder of sex development with germ cell tumors: Which is uncovered first?
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Variation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism.
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Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.
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Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development.
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Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review.
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Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism.
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Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.
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Gonadoblastoma-Associated Mixed Gonadal Germ Cell Tumor with Dysgerminoma and Hepatoid Yolk Sac Tumor Components in 46XY Gonadal Dysgenesis.
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Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review.
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Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.
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A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both.
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