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Items: 1 to 20 of 28

1.

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

Pyle LC, Nathanson KL.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):304-314. doi: 10.1002/ajmg.c.31562. Epub 2017 May 25. Review.

PMID:
28544305
2.

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15.

PMID:
28504475
3.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH.

Genome Biol. 2016 Nov 29;17(1):243.

4.

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.

Brauner R, Picard-Dieval F, Lottmann H, Rouget S, Bignon-Topalovic J, Bashamboo A, McElreavey K.

BMC Pediatr. 2016 Nov 29;16(1):195.

5.

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells.

Parker A, Cross SH, Jackson IJ, Hardisty-Hughes R, Morse S, Nicholson G, Coghill E, Bowl MR, Brown SD.

Dis Model Mech. 2015 Dec;8(12):1555-68. doi: 10.1242/dmm.023176. Epub 2015 Nov 5.

6.

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells.

Yousaf R, Meng Q, Hufnagel RB, Xia Y, Puligilla C, Ahmed ZM, Riazuddin S.

Dis Model Mech. 2015 Dec;8(12):1543-53. doi: 10.1242/dmm.023077. Epub 2015 Oct 23.

7.

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR.

Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11.

8.

Gene-Environment Interactions Target Mitogen-activated Protein 3 Kinase 1 (MAP3K1) Signaling in Eyelid Morphogenesis.

Mongan M, Meng Q, Wang J, Kao WW, Puga A, Xia Y.

J Biol Chem. 2015 Aug 7;290(32):19770-9. doi: 10.1074/jbc.M115.665729. Epub 2015 Jun 24.

9.

A RING to rule them all? Insights into the Map3k1 PHD motif provide a new mechanistic understanding into the diverse roles of Map3k1.

Suddason T, Gallagher E.

Cell Death Differ. 2015 Apr;22(4):540-8. doi: 10.1038/cdd.2014.239. Epub 2015 Jan 23. Review.

10.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E.

J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10.

11.

DSDs: genetics, underlying pathologies and psychosexual differentiation.

Arboleda VA, Sandberg DE, Vilain E.

Nat Rev Endocrinol. 2014 Oct;10(10):603-15. doi: 10.1038/nrendo.2014.130. Epub 2014 Aug 5. Review.

12.

Switching on sex: transcriptional regulation of the testis-determining gene Sry.

Larney C, Bailey TL, Koopman P.

Development. 2014 Jun;141(11):2195-205. doi: 10.1242/dev.107052. Review.

13.

Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys.

Grinspon RP, Loreti N, Braslavsky D, Valeri C, Schteingart H, Ballerini MG, Bedecarrás P, Ambao V, Gottlieb S, Ropelato MG, Bergadá I, Campo SM, Rey RA.

Front Endocrinol (Lausanne). 2014 May 7;5:51. doi: 10.3389/fendo.2014.00051. eCollection 2014. Review.

14.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S.

PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May.

15.

State of the art review in gonadal dysgenesis: challenges in diagnosis and management.

McCann-Crosby B, Mansouri R, Dietrich JE, McCullough LB, Sutton VR, Austin EG, Schlomer B, Roth DR, Karaviti L, Gunn S, Hicks MJ, Macias CG.

Int J Pediatr Endocrinol. 2014;2014(1):4. doi: 10.1186/1687-9856-2014-4. Epub 2014 Apr 14.

16.

Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development.

Das DK, Rahate SG, Mehta BP, Gawde HM, Tamhankar PM.

Indian J Hum Genet. 2013 Oct;19(4):437-42. doi: 10.4103/0971-6866.124372.

17.

Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.

Warr N, Siggers P, Carré GA, Bogani D, Brixey R, Akiyoshi M, Tachibana M, Teboul L, Wells S, Sanderson J, Greenfield A.

Hum Mol Genet. 2014 Jun 1;23(11):3035-44. doi: 10.1093/hmg/ddu020. Epub 2014 Jan 22.

18.

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals.

Wisniewski AB.

Scientifica (Cairo). 2012;2012:834967. doi: 10.6064/2012/834967. Epub 2012 Sep 19. Review.

19.

Translational genetics for diagnosis of human disorders of sex development.

Baxter RM, Vilain E.

Annu Rev Genomics Hum Genet. 2013;14:371-92. doi: 10.1146/annurev-genom-091212-153417. Epub 2013 Jul 15. Review.

20.

The molecular and cellular basis of gonadal sex reversal in mice and humans.

Warr N, Greenfield A.

Wiley Interdiscip Rev Dev Biol. 2012 Jul-Aug;1(4):559-77. doi: 10.1002/wdev.42. Epub 2012 Feb 28. Review.

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