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Items: 1 to 20 of 25

1.

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.

2.

Cell context-specific expression of primary cilia in the human testis and ciliary coordination of Hedgehog signalling in mouse Leydig cells.

Nygaard MB, Almstrup K, Lindbæk L, Christensen ST, Svingen T.

Sci Rep. 2015 May 20;5:10364. doi: 10.1038/srep10364.

3.

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O.

J Clin Endocrinol Metab. 2015 Jul;100(7):E1022-9. doi: 10.1210/jc.2015-1314.

4.

New insights on Schwann cell development.

Monk KR, Feltri ML, Taveggia C.

Glia. 2015 Aug;63(8):1376-93. doi: 10.1002/glia.22852. Review.

5.

The emerging role of insulin-like growth factors in testis development and function.

Griffeth RJ, Bianda V, Nef S.

Basic Clin Androl. 2014 Aug 18;24:12. doi: 10.1186/2051-4190-24-12.

6.

Hedgehog signaling and steroidogenesis.

Finco I, LaPensee CR, Krill KT, Hammer GD.

Annu Rev Physiol. 2015;77:105-29. doi: 10.1146/annurev-physiol-061214-111754. Review.

7.

Evolutionary genomics and adaptive evolution of the Hedgehog gene family (Shh, Ihh and Dhh) in vertebrates.

Pereira J, Johnson WE, O'Brien SJ, Jarvis ED, Zhang G, Gilbert MT, Vasconcelos V, Antunes A.

PLoS One. 2014 Dec 30;9(12):e74132. doi: 10.1371/journal.pone.0074132.

9.

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. Review.

10.

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. Review.

11.

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.

12.

In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.

Castro JJ, Méndez JP, Coral-Vázquez RM, Soriano-Ursúa MA, Damian-Matsumura P, Benítez-Granados J, Rosas-Vargas H, Canto P.

DNA Cell Biol. 2013 Sep;32(9):524-30. doi: 10.1089/dna.2013.2052.

13.

Dynamic changes in fetal Leydig cell populations influence adult Leydig cell populations in mice.

Barsoum IB, Kaur J, Ge RS, Cooke PS, Yao HH.

FASEB J. 2013 Jul;27(7):2657-66. doi: 10.1096/fj.12-225060.

14.

Mammalian sex determination—insights from humans and mice.

Eggers S, Sinclair A.

Chromosome Res. 2012 Jan;20(1):215-38. doi: 10.1007/s10577-012-9274-3. Review.

15.

Male sex determination: insights into molecular mechanisms.

McClelland K, Bowles J, Koopman P.

Asian J Androl. 2012 Jan;14(1):164-71. doi: 10.1038/aja.2011.169. Review.

16.

Desert hedgehog is a mammal-specific gene expressed during testicular and ovarian development in a marsupial.

O'Hara WA, Azar WJ, Behringer RR, Renfree MB, Pask AJ.

BMC Dev Biol. 2011 Dec 1;11:72. doi: 10.1186/1471-213X-11-72.

17.

Sex and hedgehog: roles of genes in the hedgehog signaling pathway in mammalian sexual differentiation.

Franco HL, Yao HH.

Chromosome Res. 2012 Jan;20(1):247-58. doi: 10.1007/s10577-011-9254-z. Review.

18.

Gpr126 is essential for peripheral nerve development and myelination in mammals.

Monk KR, Oshima K, Jörs S, Heller S, Talbot WS.

Development. 2011 Jul;138(13):2673-80. doi: 10.1242/dev.062224.

19.

Diverse functions of Hedgehog signaling in formation and physiology of steroidogenic organs.

Huang CC, Yao HH.

Mol Reprod Dev. 2010 Jun;77(6):489-96. doi: 10.1002/mrd.21174. Review.

20.

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M.

Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090.

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