Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis (Q77122167)

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3 December 2019

title

Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis (English)

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3 December 2019

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F Alvarez-Nava

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M Soto

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L Borjas

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R Ortiz

4

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A Rojas

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S Martínez

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A Revol

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H Barrera

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Z Alvarez

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publication date

1 July 2001

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3 December 2019

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3 December 2019

volume

44

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3 December 2019

issue

3

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3 December 2019

page(s)

155-159

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Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain

3 December 2019

cites work

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FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue

7 January 2021

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Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis

7 January 2021

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Genetic evidence equating SRY and the testis-determining factor

7 January 2021

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A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function

7 January 2021

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Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1

7 January 2021

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A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

7 January 2021

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The polymerase chain reaction. A new method of using molecular genetics for medical diagnosis

7 January 2021

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Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.

7 January 2021

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DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

7 January 2021

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Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

7 January 2021

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True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene

7 January 2021

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A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

7 January 2021

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Male development of chromosomally female mice transgenic for Sry.

7 January 2021

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Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

7 January 2021

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XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

7 January 2021

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A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development

7 January 2021

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Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

7 January 2021

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

7 January 2021

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DNA-binding properties of the product of the testis-determining gene and a related protein

7 January 2021

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 January 2021

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Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade

7 January 2021

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A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

7 January 2021

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Dax1 antagonizes Sry action in mammalian sex determination

7 January 2021

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A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis

7 January 2021

1 reference

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Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor

7 January 2021

1 reference

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

7 January 2021

1 reference

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A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis

7 January 2021

1 reference

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10.1016/S0003-3995(01)01081-4

7 January 2021

Identifiers

DOI

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3 December 2019

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