Identification of a novel mutation in the SRY gene in a 46, XY female patient
LB Salehi, O Scarciolla, GF Vanni, AM Nardone… - European journal of …, 2006 - Elsevier
BACKGROUND: The SRY gene encodes for a testis-specific transcription factor (TDF, testis
determining factor) that plays a key role in sexual differentiation and development in males …
determining factor) that plays a key role in sexual differentiation and development in males …
[HTML][HTML] A de novo frameshift mutation of the SRY gene leading to a patient with 46, XY complete gonadal dysgenesis
XB Wang, YL Liang, ZJ Zhu, Y Zhu, P Li… - Asian Journal of …, 2019 - journals.lww.com
523 screening of the SRY coding region revealed a deletion of adenine (A) at nucleotide
position 70 (c. 70delA) in the patient (Figure 1d). The mutation was not found in her family …
position 70 (c. 70delA) in the patient (Figure 1d). The mutation was not found in her family …
A novel mutation (c. 341A> G) in the SRY gene in a 46, XY female patient with gonadal dysgenesis
Z Helszer, A Dmochowska, J Szemraj… - Gene, 2013 - Elsevier
SRY (sex-determining region Y) gene, MIM 480000, NM_005634) is crucial for sex
differentiation which encodes the protein responsible for initiating testis differentiation. SRY …
differentiation which encodes the protein responsible for initiating testis differentiation. SRY …
[引用][C] A new familial mutation (R133G) in the SRY gene
D Plaseska‐Karanfilska, P Noveski… - Clinical …, 2007 - Wiley Online Library
The Y chromosomal SRY gene (sex-determining region of Y) is required for normal male sex
determination (1). To date, 66 mutations have been identified within the SRY gene (2). Most …
determination (1). To date, 66 mutations have been identified within the SRY gene (2). Most …
Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome
B Isidor, C Capito, F Paris, S Baron… - The Journal of …, 2009 - academic.oup.com
Context: The SRY gene encodes a transcription factor responsible for initiating testis
differentiation. Mutations in SRY almost always result in XY sex reversal with pure gonadal …
differentiation. Mutations in SRY almost always result in XY sex reversal with pure gonadal …
[引用][C] Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis
T Dörk, M Stuhrmann, K Miller, J Schmidtke - Human mutation, 1998 - search.proquest.com
Sex reversal in the presence of a 46, XY karyotype can result from mutations of the testis-
determining gene SRY (“sex-determining region Y”), the protein product of which is an …
determining gene SRY (“sex-determining region Y”), the protein product of which is an …
[引用][C] A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis
T Tajima, J Nakae, N Shinohara… - Human molecular …, 1994 - academic.oup.com
46, XY gonadal dysgenesis is characterized by sexual infantilism, absence of differentiated
gonads, only streak gonads being present, and presence of normally developed Mullerian …
gonads, only streak gonads being present, and presence of normally developed Mullerian …
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
YT Zeng, ZR Ren, ML Zhang, Y Huang… - Journal of medical …, 1993 - jmg.bmj.com
We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal
dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a …
dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a …
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
S Domenice, M Yumie Nishi, AE Correia Billerbeck… - Human genetics, 1998 - Springer
Mutations in the sex-determining region of the Y chromosome (the SRY gene) have been
reported in low frequency in patients with 46, XY gonadal dysgenesis. We investigated 21 …
reported in low frequency in patients with 46, XY gonadal dysgenesis. We investigated 21 …
Description and molecular analysis of SRY and AR genes in a patient with 46, XY pure gonadal dysgenesis (Swyer syndrome)
D Iliopoulos, N Volakakis, A Tsiga, I Rousso… - Annales de …, 2004 - Elsevier
46, XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular
tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We …
tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We …