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Items: 14

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePDF–776K
2.
Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome
Mahesh Appari, Ralf Werner, Lutz Wünsch, Gunnar Cario, Janos Demeter, Olaf Hiort, Felix Riepe, James D. Brooks, Paul-Martin Holterhus
J Mol Med (Berl) Author manuscript; available in PMC 2017 Jul 20.
Published in final edited form as: J Mol Med (Berl). 2009 Jun; 87(6): 623–632. Published online 2009 Mar 30. doi: 10.1007/s00109-009-0462-3
PMCID:
PMC5518750
ArticlePDF–921K
3.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
4.
Could androgen receptor gene CAG tract polymorphism affect spermatogenesis in men with idiopathic infertility?
V. A. Giagulli, M. D. Carbone, G. De Pergola, E. Guastamacchia, F. Resta, B. Licchelli, C. Sabbà, V. Triggiani
J Assist Reprod Genet. 2014 Jun; 31(6): 689–697. Published online 2014 Apr 2. doi: 10.1007/s10815-014-0221-4
PMCID:
PMC4048386
ArticlePDF–286K
5.
Implication of androgen receptor in urinary bladder cancer: a critical mini review
Arshad H Rahmani, Mohammad Alzohairy, Ali Yousif Y Babiker, Amjad A Khan, Salah M Aly, Moshahid A Rizvi
Int J Mol Epidemiol Genet. 2013; 4(3): 150–155. Published online 2013 Sep 12.
PMCID:
PMC3773566
ArticlePDF–391K
6.
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5 α-Reductase Type 2 Deficiency
Nélio Neves Veiga-Junior, Pedro Augusto Rodrigues Medaets, Reginaldo José Petroli, Flávia Leme Calais, Maricilda Palandi de Mello, Carla Cristina Telles de Sousa Castro, Guilherme Guaragna-Filho, Letícia Espósito Sewaybricker, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior
Int J Endocrinol. 2012; 2012: 964876. Published online 2011 Dec 12. doi: 10.1155/2012/964876
PMCID:
PMC3238364
ArticlePDF–496K
7.
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team
Ganka Douglas, Marni E. Axelrad, Mary L. Brandt, Elizabeth Crabtree, Jennifer E. Dietrich, Shannon French, Sheila Gunn, Lefkothea Karaviti, Monica E. Lopez, Charles G. Macias, Laurence B. McCullough, Deepa Suresh, V. Reid Sutton
Int J Pediatr Endocrinol. 2010; 2010: 919707. Published online 2010 Oct 17. doi: 10.1155/2010/919707
PMCID:
PMC2963131
ArticlePDF–683K
8.
Fkbp52 Regulates Androgen Receptor Transactivation Activity and Male Urethra Morphogenesis
Hanying Chen, Weidong Yong, Terry D. Hinds, Jr, Zuocheng Yang, Yuhong Zhou, Edwin R. Sanchez, Weinian Shou
J Biol Chem. 2010 Sep 3; 285(36): 27776–27784. Published online 2010 Jul 6. doi: 10.1074/jbc.M110.156091
PMCID:
PMC2934645
ArticlePDF–2.9M
9.
Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents
Claudia Wiesemann, Susanne Ude-Koeller, Gernot H. G. Sinnecker, Ute Thyen
Eur J Pediatr. 2010; 169(6): 671–679. Published online 2009 Oct 20. doi: 10.1007/s00431-009-1086-x
PMCID:
PMC2859219
ArticlePDF–160K
10.
Consensus statement on management of intersex disorders
I A Hughes, C Houk, S F Ahmed, P A Lee, LWPES1/ESPE2 Consensus Group
Arch Dis Child. 2006 Jul; 91(7): 554–563. Published online 2006 Apr 19. doi: 10.1136/adc.2006.098319
PMCID:
PMC2082839
ArticlePDF–342K
11.
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
A L Boehmer, A O Brinkmann, M F Niermeijer, L Bakker, D J Halley, S L Drop
Am J Hum Genet. 1997 Apr; 60(4): 1003–1006.
PMCID:
PMC1712473
SummaryPage BrowsePDF–879K
12.
Revealing the diagnosis of androgen insensitivity syndrome in adulthood
Jennifer Conn, Lynn Gillam, Gerard S Conway
BMJ. 2005 Sep 17; 331(7517): 628–630. doi: 10.1136/bmj.331.7517.628
PMCID:
PMC1215563
ArticlePDF–81K
13.
Androgen insensitivity with mental retardation: a contiguous gene syndrome?
H R Davies, I A Hughes, M O Savage, C A Quigley, M Trifiro, L Pinsky, T R Brown, M N Patterson
J Med Genet. 1997 Feb; 34(2): 158–160. doi: 10.1136/jmg.34.2.158
PMCID:
PMC1050872
SummaryPage BrowsePDF–744K
14.
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.
C S Choong, C A Quigley, F S French, E M Wilson
J Clin Invest. 1996 Sep 15; 98(6): 1423–1431. doi: 10.1172/JCI118930
PMCID:
PMC507569
SummaryPDF–336K

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