KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS
about
Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomesAnalytic review: nature and origin of males with XX sex chromosomesChromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivationFurther dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).Turner's syndrome in monozygotic twins.Human dicentric Y chromosomes. Case report and review of the literature.Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes.Differences in human X isochromosomes.Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.Molecular diagnosis of Turner's syndromeA case of Klinefelter's syndrome with 47, Xi(Xq)Y karyotype.45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male.An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.Exchange of terminal portions of X- and Y-chromosomal short arms in human XY femalesEvidence for X-linkage of steroid sulfatase in the mouse: steroid sulfatase levels in oocytes of XX and XO mice.Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brainTurner Syndrome Genotype and phenotype and their effect on presenting features and timing of DiagnosisThe phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.Trisomy D1 (13-15) associated with XO-XY mosaicismAnomalies of development in a girl with unusual sex chromosomal mosaicism.Influence of the Y chromosome on gonadal differentiation: asymmetrical gonads in an XO-XY mosaic.Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi)Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndromePossible X-autosomal translocation in a girl with gonadal dysgenesis.X chromosome long arm deletion in a patient with Down's syndromeSomatic stigmata of Turner's syndrome in a patient with 46,XXq-A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndromeMapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.Two XX males diagnosed in childhood. Endocrine, renal, and laboratory findingsTurner syndrome masquerading as normal early puberty.Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.The cell surface antigen locus, MIC2X, escapes X-inactivationSexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome.Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.Masculinized Turner's syndrome XY-XO mosaicism.Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome.True hermaphroditism or gonadal intersexuality. Cytogenetic and gonadal analyses of 5 new examples related to 67 known cases studied cytogeneticallyPhysical mapping of the human pseudo-autosomal region; comparison with genetic linkage map.
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P2860
KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS
description
1965 nî lūn-bûn
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1965 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1965 թվականի հունիսին հրատարակված գիտական հոդված
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1965年の論文
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1965年論文
@yue
1965年論文
@zh-hant
1965年論文
@zh-hk
1965年論文
@zh-mo
1965年論文
@zh-tw
1965年论文
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name
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@ast
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@en
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS.
@nl
type
label
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@ast
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@en
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS.
@nl
prefLabel
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@ast
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@en
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS.
@nl
P2860
P1476
KARYOTYPE-PHENOTYPE CORRELATIO ...... PATHOGENESIS OF MALFORMATIONS
@en
P2093
FERGUSON-SMITH MA
P2860
P304
P407
P577
1965-06-01T00:00:00Z