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Items: 1 to 20 of 153

1.

A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.

Cost NG, Ludwig AT, Wilcox DT, Rakheja D, Steinberg SJ, Baker LA.

J Pediatr Surg. 2009 Feb;44(2):451-4. doi: 10.1016/j.jpedsurg.2008.10.003.

PMID:
19231556
2.

A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.

Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M.

Genet Couns. 2011;22(1):49-53.

PMID:
21614988
3.

Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.

Okamoto T, Nakamura E, Nagaya K, Hayashi T, Mukai T, Fujieda K.

J Pediatr Endocrinol Metab. 2010 Nov;23(11):1189-93. Review.

PMID:
21284335
4.

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G.

Hum Mol Genet. 1997 Jan;6(1):91-8.

PMID:
9002675
5.

Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

Staffler A, Hammel M, Wahlbuhl M, Bidlingmaier C, Flemmer AW, Pagel P, Nicolai T, Wegner M, Holzinger A.

Hum Mutat. 2010 Jun;31(6):E1436-44. doi: 10.1002/humu.21238.

PMID:
20513132
6.

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P.

Sex Dev. 2010;4(3):143-9. doi: 10.1159/000302403. Epub 2010 May 4.

PMID:
20453475
7.

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.

Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH.

Hum Mol Genet. 1996 Oct;5(10):1625-30.

PMID:
8894698
8.

Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.

Chen SY, Lin SJ, Tsai LP, Chou YY.

Urology. 2012 Apr;79(4):908-11. doi: 10.1016/j.urology.2011.07.1402. Epub 2011 Oct 2.

PMID:
21962881
9.

Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.

Jakubiczka S, Bettecken T, Koch G, Tüysüz B, Wollnik B, Wieacker P.

Clin Dysmorphol. 2001 Jul;10(3):197-201.

PMID:
11446414
10.

A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.

Pop R, Zaragoza MV, Gaudette M, Dohrmann U, Scherer G.

Hum Genet. 2005 Jun;117(1):43-53. Epub 2005 Apr 2.

PMID:
15806394
11.

A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.

Ninomiya S, Yokoyama Y, Teraoka M, Mori R, Inoue C, Yamashita S, Tamai H, Funato M, Seino Y.

Clin Genet. 2000 Sep;58(3):224-7.

PMID:
11076045
12.

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.

Carvajal N, Martínez-García M, Chagoyen M, Morcillo N, Pino A, Lorda I, Trujillo-Tiebas MJ.

Gene. 2016 Feb 15;577(2):289-92. doi: 10.1016/j.gene.2015.11.039. Epub 2015 Nov 27.

PMID:
26631621
13.

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C.

Eur J Med Genet. 2014 Jul;57(7):315-8. doi: 10.1016/j.ejmg.2014.04.018. Epub 2014 May 10.

PMID:
24821304
14.

A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

Matsushita M, Kitoh H, Kaneko H, Mishima K, Kadono I, Ishiguro N, Nishimura G.

Am J Med Genet A. 2013 Oct;161A(10):2528-34. doi: 10.1002/ajmg.a.36134. Epub 2013 Aug 16.

PMID:
24038782
15.

Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Gopakumar H, Superti-Furga A, Unger S, Scherer G, Rajiv PK, Nampoothiri S.

Indian J Pediatr. 2014 Jan;81(1):98-100. doi: 10.1007/s12098-013-1007-x. Epub 2013 Apr 7.

PMID:
23564514
16.

A case of campomelic dysplasia without sex reversal.

Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA.

J Korean Med Sci. 2011 Jan;26(1):143-5. doi: 10.3346/jkms.2011.26.1.143. Epub 2010 Dec 22.

17.

XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.

Morerio C, Calvari V, Rosanda C, Porta S, Gambini C, Panarello C.

Cancer Genet Cytogenet. 2002 Jul 1;136(1):58-61.

PMID:
12165453
18.

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Bhagavath B, Layman LC, Ullmann R, Shen Y, Ha K, Rehman K, Looney S, McDonough PG, Kim HG, Carr BR.

Mol Cell Endocrinol. 2014 Aug 5;393(1-2):1-7. doi: 10.1016/j.mce.2014.05.006. Epub 2014 Jun 4.

19.

Clinical Utility Gene Card for: campomelic dysplasia.

Scherer G, Zabel B, Nishimura G.

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.228. Epub 2012 Oct 10. No abstract available.

20.

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.

Preiksaitiene E, Benušienė E, Matulevičienė A, Grigalionienė K, Utkus A, Kučinskas V.

Am J Med Genet A. 2016 Mar;170(3):781-4. doi: 10.1002/ajmg.a.37466. Epub 2015 Nov 24. No abstract available.

PMID:
26602066

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