Literature DB >> 24082562

Swyer's Syndrome: In a Fifty-Year-Old Female.

Cavit Culha1, Mesut Ozkaya, Rustu Serter, Ibrahim Sahin, Bayram Aydin, Yalcin Aral.   

Abstract

Year:  2012        PMID： 24082562      PMCID： PMC3526701          DOI： 10.1007/s13224-011-0100-1

Source DB:  PubMed          Journal:  J Obstet Gynaecol India        ISSN： 0975-6434


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  14 in total

1.  A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

Authors:  E Battiloro; B Angeletti; M C Tozzi; L Bruni; S Tondini; P Vignetti; R Verna; E D'Ambrosio
Journal:  Hum Genet       Date:  1997-10       Impact factor: 4.132

2.  Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

Authors:  Lin Lin; Pascal Philibert; Bruno Ferraz-de-Souza; Daniel Kelberman; Tessa Homfray; Assunta Albanese; Veruska Molini; Neil J Sebire; Silvia Einaudi; Gerard S Conway; Ieuan A Hughes; J Larry Jameson; Charles Sultan; Mehul T Dattani; John C Achermann
Journal:  J Clin Endocrinol Metab       Date:  2007-01-02       Impact factor: 5.958

3.  SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients.

Authors:  S Uehara; T Funato; N Yaegashi; H Suziki; J Sato; T Sasaki; A Yajima
Journal:  Cancer Genet Cytogenet       Date:  1999-08

4.  Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Authors:  Giorgio Gimelli; Stefania Gimelli; Nazzareno Dimasi; Renata Bocciardi; Eliana Di Battista; Tiziano Pramparo; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2006-10-25       Impact factor: 4.246

5.  Identification of a novel mutation in the SRY gene in a 46, XY female patient.

Authors:  L Baghernajad Salehi; O Scarciolla; G Frajese Vanni; A M Nardone; G Frajese; G Novelli; L Stuppia
Journal:  Eur J Med Genet       Date:  2006-04-17       Impact factor: 2.708

6.  [Clinical examinations, chromosomal and molecular DNA in patients with Swyer syndrome].

Authors:  A T Midro; B Panasiuk; S Wołczyński; G Scherer; U Matysiak-Scholze; R Leśniewicz; I Sipowicz
Journal:  Ginekol Pol       Date:  1993-05       Impact factor: 1.232

7.  Tumors of dysgenetic gonads in Swyer syndrome.

Authors:  Dorota Zieliñska; Stanislaw Zajaczek; Izabella Rzepka-Górska
Journal:  J Pediatr Surg       Date:  2007-10       Impact factor: 2.545

8.  Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

Authors:  Vincent R Harley; Sharon Layfield; Claire L Mitchell; Jade K Forwood; Anna P John; Lyndall J Briggs; Sharon G McDowall; David A Jans
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-22       Impact factor: 11.205

9.  A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.

Authors:  Anne L Reuter; Katsumi Goji; Nathan C Bingham; Masafumi Matsuo; Keith L Parker
Journal:  Eur J Endocrinol       Date:  2007-08       Impact factor: 6.664

10.  Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.

Authors:  G Scherer; M Held; M Erdel; D Meschede; J Horst; R Lesniewicz; A T Midro
Journal:  Cytogenet Cell Genet       Date:  1998
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  1 in total

1.  Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma.

Authors:  Hong-Lan Zhu; Dong-Mei Bao; Yue Wang; Dan-Hua Shen; Yi Li; Heng Cui
Journal:  Chin Med J (Engl)       Date:  2016-07-20       Impact factor: 2.628
  1 in total

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