221 related articles for article (PubMed ID: 27821113)
1. Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
De Sousa SM; Kassahn KS; McIntyre LC; Chong CE; Scott HS; Torpy DJ
BMC Endocr Disord; 2016 Nov; 16(1):58. PubMed ID: 27821113
[TBL] [Abstract][Full Text] [Related]
2. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
Coutant R; Mallet D; Lahlou N; Bouhours-Nouet N; Guichet A; Coupris L; Croué A; Morel Y
J Clin Endocrinol Metab; 2007 Aug; 92(8):2868-73. PubMed ID: 17488792
[TBL] [Abstract][Full Text] [Related]
3. Challenges in the Diagnosis of XY Differences of Sexual Development.
Bumbulienė Ž; Bužinskienė D; Banuškevičienė G; Šidlovska E; Preikšaitienė E; Utkus A
Medicina (Kaunas); 2022 Nov; 58(12):. PubMed ID: 36556938
[No Abstract] [Full Text] [Related]
4. Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients.
Saranya B; Bhavani G; Arumugam B; Jayashankar M; Santhiya ST
J Genet; 2016 Dec; 95(4):911-921. PubMed ID: 27994190
[TBL] [Abstract][Full Text] [Related]
5. A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
Raveendran SK; Ramachandran L; Joseph L; Asokan AK; Raj S; George A; James J
Andrologia; 2019 Oct; 51(9):e13377. PubMed ID: 31361042
[TBL] [Abstract][Full Text] [Related]
6. Differentiating Swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma.
Nunes E; Rodrigues C; Geraldes F; Aguas F
J Pediatr Adolesc Gynecol; 2014 Jun; 27(3):e67-8. PubMed ID: 24119655
[TBL] [Abstract][Full Text] [Related]
7. A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
Fan W; Wang B; He S; Zhang T; Yin C; Chen Y; Zheng S; Zhang J; Li L
PLoS One; 2016; 11(12):e0168484. PubMed ID: 28030592
[TBL] [Abstract][Full Text] [Related]
8. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Wang X; Xue M; Zhao M; He F; Li C; Li X
Gene; 2018 Apr; 651():143-151. PubMed ID: 29378242
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
Helszer Z; Dmochowska A; Borkowska E; Moczulska H; Słowikowska-Hilczer J; Pietrusiński M; Jędrzejczyk S; Kałużewski B
Endokrynol Pol; 2013; 64(5):398-402. PubMed ID: 24186597
[TBL] [Abstract][Full Text] [Related]
10. A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
Andonova S; Robeva R; Sirakov M; Mainhard K; Tomova A; Ledig S; Kumanov P; Savov A
Sex Dev; 2015; 9(6):333-7. PubMed ID: 26871559
[TBL] [Abstract][Full Text] [Related]
11. Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes.
Lukusa T; Fryns JP; Kleczkowska A; Van den Berghe H
Genet Couns; 1991; 2(1):9-16. PubMed ID: 1741980
[TBL] [Abstract][Full Text] [Related]
12. Identification of a novel mutation in the SRY gene in a 46, XY female patient.
Salehi LB; Scarciolla O; Vanni GF; Nardone AM; Frajese G; Novelli G; Stuppia L
Eur J Med Genet; 2006; 49(6):494-8. PubMed ID: 16675314
[TBL] [Abstract][Full Text] [Related]
13. Management of phenotypic female patients with an XY karyotype.
Portuondo JA; Neyro JL; Barral A; Gonzalez-Gorospe F; Benito JA
J Reprod Med; 1986 Jul; 31(7):611-5. PubMed ID: 3091820
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
Helszer Z; Dmochowska A; Szemraj J; Słowikowska-Hilczer J; Wieczorek M; Jędrzejczyk S; Kałużewski B
Gene; 2013 Sep; 526(2):467-70. PubMed ID: 23624391
[TBL] [Abstract][Full Text] [Related]
15. A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
Ambulkar PS; Waghmare JE; Verma Shivkumar P; Narang P; Pal AK
Andrologia; 2021 Jun; 53(5):e14011. PubMed ID: 33570214
[TBL] [Abstract][Full Text] [Related]
16. Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
Tajouri A; Ben Gaied D; Hizem S; Boujelben S; Maazoul F; M'rad R; Poulat F; Kharrat M
Sex Dev; 2017; 11(4):203-209. PubMed ID: 28787711
[TBL] [Abstract][Full Text] [Related]
17. Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
Bastian C; Muller JB; Lortat-Jacob S; Nihoul-Fékété C; Bignon-Topalovic J; McElreavey K; Bashamboo A; Brauner R
Fertil Steril; 2015 May; 103(5):1297-304. PubMed ID: 25813279
[TBL] [Abstract][Full Text] [Related]
18. Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity.
Bukhari I; Li G; Wang L; Iqbal F; Zhang H; Zhu J; Liu H; Fang X; Al-Daghri NM; Cooke HJ; Zhang Y; Jiang X
J Mol Histol; 2017 Jun; 48(3):159-167. PubMed ID: 28299491
[TBL] [Abstract][Full Text] [Related]
19. Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report.
Mutlu GY; Kırmızıbekmez H; Aydın H; Çetiner H; Moralıoğlu S; Celayir AC
J Pediatr Endocrinol Metab; 2015 Jan; 28(1-2):207-10. PubMed ID: 25153220
[TBL] [Abstract][Full Text] [Related]
20. A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.
Mazen I; Soliman H; El-Gammal M; Torky A; Mekkawy M; Abdel-Hamid MS; Essawi M
Horm Res Paediatr; 2014; 82(6):411-4. PubMed ID: 25034089
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
