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Results: 1 to 20 of 103

Similar articles for PubMed (Select 23551858)

1.

p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.

Tonni G, Ventura A, Pattacini P, Bonasoni MP, Baffico AM.

J Obstet Gynaecol Res. 2013 May;39(5):1085-91. doi: 10.1111/jog.12032. Epub 2013 Apr 3.

PMID:
23551858
2.

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.

Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F.

Ultrasound Obstet Gynecol. 2010 Sep;36(3):315-23. doi: 10.1002/uog.7761.

3.

Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

Massardier J, Roth P, Michel-Calemard L, Rudigoz RC, Bouvier R, Dijoud F, Arnould P, Combourieu D, Gaucherand P.

Fetal Diagn Ther. 2008;24(4):452-7. doi: 10.1159/000176299. Epub 2008 Nov 26.

PMID:
19033726
4.

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
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.

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
7.

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
8.

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, Morel Y, David A, Le Caignec C.

Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830.

PMID:
19449405
9.

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
10.

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
11.

Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.

Nelson ME, Griffin GR, Innis JW, Green GE.

Ann Otol Rhinol Laryngol. 2011 Oct;120(10):682-5. Review.

PMID:
22097155
12.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM.

BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.

13.

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.

14.

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T.

Am J Med Genet A. 2009 Dec;149A(12):2882-5. doi: 10.1002/ajmg.a.33107. No abstract available.

PMID:
19921652
15.

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
16.

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
17.

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.

18.

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
19.

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.

Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S.

Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606.

PMID:
24934569
20.

Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula.

Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T.

Am J Med Genet A. 2012 Jul;158A(7):1529-34. doi: 10.1002/ajmg.a.35308. Epub 2012 Apr 23.

PMID:
22529047
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