Results 91 to 100 of about 43,260 (208)
, 2017 Diagnosis and classification of Gonadal Dysgenesis were classically established by histological evaluation; in testicular dysgenesis partial and mixed gonadal dysgenesis are distinguished on the basis of karyotype with 46,XY or mosaicism of 45X,46XY and ...
Hiort, Olaf +8 more
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Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity
, 2009 : Gonadal dysgenesis with normal male karyotype (46XY) is a sexual differentiation disorder. So far three patients have been reported presenting the association of 46XY gonadal dysgenesis with peripheral neuropathy.
Geens, Karin +9 more
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Mixed gonadal dysgenesis with seminoma: a case report [PDF]
, 1987 A case of mixed gonadal dysgenesis with anaplastic seminoma is reported. A 43-year-old, female, who was brought up as a female, was admitted to our hospital for swelling of left inguinal region.
平尾, 佳彦 +6 more
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, 2007 Context: Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect.
Schoumans, Jacqueline +11 more
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Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis
, 2003 International audience46,XY gonadal dysgenesis was transmitted as an autosomal‐dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with
Gregersen, P +9 more
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Bio-psycho-social aspects of gonadal dysgenesis
, 1989 Gonadal dysgenesis is the commonest cause of primary amenorrhea. Women with such a disease syndrome feel physically healthy but they lack the two bodily functions which are exclusively feminine: menstruation and child-bearing.
Tang, GWK
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Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
, 2010 The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box.
Andréa Trevas Maciel-Guerra +7 more
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46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?
, 1985 Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,XY gonadal dysgenesis and 12
Wachtel, S S +4 more
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Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis.
, 2003 We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations.The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically ...
I. D. Monte +10 more
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Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis
, 2008 We report a 36-year-old patient with 46XY pure gonadal dysgenesis (GD), who manifested a syndrome of progressive motor-sensory neuropathy. Sural nerve biopsy showed severe axonal neuropathy.
FEDERICO A. +10 more
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