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 *

206 related articles for article (PubMed ID: 20410220)

  • 21. Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.
    De Falco L; Piscopo C; D'Angelo R; Evangelista E; Suero T; Sirica R; Ruggiero R; Savarese G; Di Carlo A; Furino G; Scarpato C; Fico A
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946839
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical and biochemical consequences of p450 oxidoreductase deficiency.
    Flück CE; Pandey AV
    Endocr Dev; 2011; 20():63-79. PubMed ID: 21164260
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
    Nagaraja MR; Gubbala SP; Delphine Silvia CRW; Amanchy R
    Syst Biol Reprod Med; 2019 Apr; 65(2):105-120. PubMed ID: 30550360
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
    Topcu V; Ilgin-Ruhi H; Siklar Z; Karabulut HG; Berberoglu M; Hacihamdioglu B; Savas-Erdeve S; Aycan Z; Peltek-Kendirci HN; Ocal G; Tukun FA
    J Pediatr Endocrinol Metab; 2015 Nov; 28(11-12):1257-63. PubMed ID: 26197461
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
    de Silva KS; Sirisena ND; Wijenayaka HK; Cooray JG; Jayasekara RW; Dissanayake VH
    Ceylon Med J; 2015 Dec; 60(4):139-42. PubMed ID: 26778393
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Approach to the Virilizing Girl at Puberty.
    Santi M; Graf S; Zeino M; Cools M; Van De Vijver K; Trippel M; Aliu N; Flück CE
    J Clin Endocrinol Metab; 2021 Apr; 106(5):1530-1539. PubMed ID: 33367768
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
    Liu Q; Yin X; Li P
    Reprod Biol Endocrinol; 2020 Apr; 18(1):34. PubMed ID: 32345305
    [TBL] [Abstract][Full Text] [Related]  

  • 28. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N; Satoh M; Mikami A; Mikami S; Nagashima-Miyokawa A; Sato N; Yokoya S; Tanaka T
    Horm Res; 2001; 55(3):141-6. PubMed ID: 11549876
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Alternative pathway androgen biosynthesis and human fetal female virilization.
    Reisch N; Taylor AE; Nogueira EF; Asby DJ; Dhir V; Berry A; Krone N; Auchus RJ; Shackleton CHL; Hanley NA; Arlt W
    Proc Natl Acad Sci U S A; 2019 Oct; 116(44):22294-22299. PubMed ID: 31611378
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
    Dhir V; Reisch N; Bleicken CM; Lebl J; Kamrath C; Schwarz HP; Grötzinger J; Sippell WG; Riepe FG; Arlt W; Krone N
    J Clin Endocrinol Metab; 2009 Aug; 94(8):3058-64. PubMed ID: 19454579
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.
    Choi JH; Kim GH; Seo EJ; Kim KS; Kim SH; Yoo HW
    J Pediatr Endocrinol Metab; 2008 Jun; 21(6):545-53. PubMed ID: 18717241
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
    Kalfa N; Fukami M; Philibert P; Audran F; Pienkowski C; Weill J; Pinto G; Manouvrier S; Polak M; Ogata T; Sultan C
    PLoS One; 2012; 7(3):e32505. PubMed ID: 22479329
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Rosa S; Steigert M; Lang-Muritano M; l'Allemand D; Schoenle EJ; Biason-Lauber A
    Horm Res Paediatr; 2010; 73(3):198-204. PubMed ID: 20197673
    [TBL] [Abstract][Full Text] [Related]  

  • 34. P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.
    Burkhard FZ; Parween S; Udhane SS; Flück CE; Pandey AV
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):38-50. PubMed ID: 27068427
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutations of androgen receptor gene in androgen insensitivity syndromes.
    Sultan C; Lumbroso S; Poujol N; Belon C; Boudon C; Lobaccaro JM
    J Steroid Biochem Mol Biol; 1993 Nov; 46(5):519-30. PubMed ID: 8240973
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome.
    Villagomez DAF; Welsford EG; King WA; Revay T
    Genes (Basel); 2020 Jan; 11(1):. PubMed ID: 31936796
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C; Pratuangdejkul J; Supornsilchai V; Muensri S; Hiranras Y; Sahakitrungruang T; Watcharasindhu S; Suphapeetiporn K; Shotelersuk V
    J Pediatr Endocrinol Metab; 2017 Jan; 30(1):19-26. PubMed ID: 27849622
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency.
    Flück CE; Mallet D; Hofer G; Samara-Boustani D; Leger J; Polak M; Morel Y; Pandey AV
    Biochem Biophys Res Commun; 2011 Sep; 412(4):572-7. PubMed ID: 21843508
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
    Fukami M; Nishimura G; Homma K; Nagai T; Hanaki K; Uematsu A; Ishii T; Numakura C; Sawada H; Nakacho M; Kowase T; Motomura K; Haruna H; Nakamura M; Ohishi A; Adachi M; Tajima T; Hasegawa Y; Hasegawa T; Horikawa R; Fujieda K; Ogata T
    J Clin Endocrinol Metab; 2009 May; 94(5):1723-31. PubMed ID: 19258400
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
    Köhler B; Lin L; Ferraz-de-Souza B; Wieacker P; Heidemann P; Schröder V; Biebermann H; Schnabel D; Grüters A; Achermann JC
    Hum Mutat; 2008 Jan; 29(1):59-64. PubMed ID: 17694559
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.