These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

105 related articles for article (PubMed ID: 14756668)

  • 21. A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.
    Cong P; Ye Y; Wang Y; Lu L; Yong J; Yu P; Joseph KK; Jin F; Qi M
    Gene; 2012 Jun; 500(2):220-3. PubMed ID: 22487869
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
    Boehmer AL; Brinkmann AO; Nijman RM; Verleun-Mooijman MC; de Ruiter P; Niermeijer MF; Drop SL
    J Clin Endocrinol Metab; 2001 Mar; 86(3):1240-6. PubMed ID: 11238515
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Replacement of androgen receptor gene causes complete androgen insensitivity in a large family].
    Qin YY; Gao X; You L; Li Y; Yan JH; Zhao YR; Chen ZJ
    Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):828-30. PubMed ID: 19087565
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome.
    Copelli SB; Lumbroso S; Audran F; Pellizzari EH; Heinrich JJ; Cigorraga SB; Sultan C; Chemes HE
    Asian J Androl; 1999 Jun; 1(1-2):73-7. PubMed ID: 11225909
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.
    Yen JL; Chang KH; Sheu JC; Lee YJ; Tsai LP
    Acta Paediatr Taiwan; 2005; 46(2):101-5. PubMed ID: 16302589
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome.
    Sammarco I; Grimaldi P; Rossi P; Cappa M; Moretti C; Frajese G; Geremia R
    J Clin Endocrinol Metab; 2000 Sep; 85(9):3256-61. PubMed ID: 10999818
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding.
    Rajender S; Gupta NJ; Chakrabarty B; Singh L; Thangaraj K
    Fertil Steril; 2009 Mar; 91(3):933.e23-8. PubMed ID: 19062009
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
    Deeb A; Mason C; Lee YS; Hughes IA
    Clin Endocrinol (Oxf); 2005 Jul; 63(1):56-62. PubMed ID: 15963062
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome].
    Xie JH; Qu JH; Xiao QZ; Zhou YQ
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):99-101. PubMed ID: 23450491
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
    Saunders PT; Padayachi T; Tincello DG; Shalet SM; Wu FC
    Clin Endocrinol (Oxf); 1992 Sep; 37(3):214-20. PubMed ID: 1424203
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.
    He J; Qi S; Zhang H; Guo J; Chen S; Zhang Q; Zhu B
    J Genet; 2017 Sep; 96(4):695-700. PubMed ID: 28947719
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.
    Rosa S; Biason-Lauber A; Mongan NP; Navratil F; Schoenle EJ
    J Clin Endocrinol Metab; 2002 Sep; 87(9):4378-82. PubMed ID: 12213902
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Characterization of a novel receptor mutation A-->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis.
    Sills ES; Sholes TE; Perloe M; Kaplan CR; Davis JG; Tucker MJ
    Int J Mol Med; 2002 Jan; 9(1):45-8. PubMed ID: 11744994
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
    Philibert P; Audran F; Pienkowski C; Morange I; Kohler B; Flori E; Heinrich C; Dacou-Voutetakis C; Joseph MG; Guedj AM; Journel H; Hecart-Bruna AC; Khotchali I; Ten S; Bouchard P; Paris F; Sultan C
    Fertil Steril; 2010 Jul; 94(2):472-6. PubMed ID: 19463997
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort.
    Touzon MS; Garrido NP; Marino R; Ramirez P; Costanzo M; Guercio G; Berensztein E; Rivarola MA; Belgorosky A
    J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):24-33. PubMed ID: 30251955
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene.
    Davies HR; Hughes IA; Patterson MN
    Clin Endocrinol (Oxf); 1995 Jul; 43(1):69-77. PubMed ID: 7641413
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Complete androgen insensitivity syndrome and discordant Müllerian remnants: two cases with novel mutation in the androgen receptor.
    Güven A; Dursun F; Özkanlı S; Güçlüer B; Kuru Lİ
    J Pediatr Endocrinol Metab; 2013; 26(9-10):909-14. PubMed ID: 23729616
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.
    Batista RL; Rodrigues ADS; Nishi MY; Gomes NL; Faria JAD; Moraes DR; Carvalho LR; Costa EMF; Domenice S; Mendonca BB
    J Steroid Biochem Mol Biol; 2017 Nov; 174():14-16. PubMed ID: 28743543
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.