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Results: 1 to 20 of 103

1.

Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.

Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P, Sprecher E, Itin PH.

Eur J Dermatol. 2010 Nov-Dec;20(6):693-7. doi: 10.1684/ejd.2010.1051. Epub 2010 Aug 24.

PMID:
20732851
[PubMed - indexed for MEDLINE]
2.

Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.

Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP.

Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5. Erratum in: Clin Genet. 2011 Apr;79(4):401.

PMID:
19438932
[PubMed - indexed for MEDLINE]
3.

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.

Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP.

J Bone Miner Res. 2007 Feb;22(2):243-50.

PMID:
17087626
[PubMed - indexed for MEDLINE]
4.

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

Yadegari M, Whyte MP, Mumm S, Phelps RG, Shanske A, Totty WG, Cohen SR.

Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320.

PMID:
20083694
[PubMed - indexed for MEDLINE]
5.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR.

Hum Mutat. 2006 Mar;27(3):290.

PMID:
16470551
[PubMed - indexed for MEDLINE]
6.

A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.

Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y.

Calcif Tissue Int. 2007 Aug;81(2):81-4. Epub 2007 Jul 11.

PMID:
17622481
[PubMed - indexed for MEDLINE]
7.

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR.

Nat Genet. 2004 Nov;36(11):1213-8. Epub 2004 Oct 17.

PMID:
15489854
[PubMed - indexed for MEDLINE]
8.

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S.

BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.

PMID:
20618940
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.

Yuste-Chaves M, Cañueto J, Santos-Briz Á, Ciria S, González-Sarmiento R, Unamuno P.

Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.

PMID:
20678097
[PubMed - indexed for MEDLINE]
10.

Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene.

Gass JK, Hellemans J, Mortier G, Griffiths M, Burrows NP.

J Am Acad Dermatol. 2008 May;58(5 Suppl 1):S103-4. doi: 10.1016/j.jaad.2007.03.031. No abstract available.

PMID:
18489034
[PubMed - indexed for MEDLINE]
11.

Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke-Ollendorff syndrome)?

Schirren H, Schirren CG, Stolz W, Kind P, Plewig G.

Dermatology. 1994;189(4):368-72. Review.

PMID:
7873822
[PubMed - indexed for MEDLINE]
12.

The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans.

Dheedene A, Deleye S, Hellemans J, Staelens S, Vandenberghe S, Mortier G.

Calcif Tissue Int. 2009 Dec;85(6):546-51. doi: 10.1007/s00223-009-9305-z. Epub 2009 Oct 28.

PMID:
19862465
[PubMed - indexed for MEDLINE]
13.

Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture.

Giro MG, Duvic M, Smith LT, Kennedy R, Rapini R, Arnett FC, Davidson JM.

J Invest Dermatol. 1992 Aug;99(2):129-37.

PMID:
1629625
[PubMed - indexed for MEDLINE]
14.

Buschke-Ollendorff syndrome: three generations in a Japanese family.

Kawamura A, Ochiai T, Tan-Kinoshita M, Suzuki H.

Pediatr Dermatol. 2005 Mar-Apr;22(2):133-7.

PMID:
15804302
[PubMed - indexed for MEDLINE]
15.

Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation.

Korekawa A, Nakano H, Toyomaki Y, Takiyoshi N, Rokunohe D, Akasaka E, Nakajima K, Sawamura D.

Br J Dermatol. 2012 Apr;166(4):900-3. doi: 10.1111/j.1365-2133.2011.10691.x. Epub 2012 Jan 9. No abstract available.

PMID:
21985280
[PubMed - indexed for MEDLINE]
16.

Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities.

Cañueto J, Román C, Santos-Briz Á, Ciria S, González R, Unamuno P.

J Am Acad Dermatol. 2011 Jul;65(1):e7-9. doi: 10.1016/j.jaad.2010.01.025. No abstract available.

PMID:
21679808
[PubMed - indexed for MEDLINE]
17.

Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions.

Assmann A, Mandt N, Geilen CC, Blume-Peytavi U.

Eur J Dermatol. 2001 Nov-Dec;11(6):576-9.

PMID:
11701413
[PubMed - indexed for MEDLINE]
18.

[Buschke-Ollendorff syndrome].

de la Salmonière P, Janier M, Chemlal K, Lazareth I, Carlotti A, Charasson I, Priollet P, Daniel F.

Ann Dermatol Venereol. 1994;121(10):718-20. French.

PMID:
7793762
[PubMed - indexed for MEDLINE]
19.

[Buschke-Ollendorff syndrome: inactivating mutation of the LEMD3 gene].

Dereure O.

Ann Dermatol Venereol. 2005 Jun-Jul;132(6-7 Pt 1):593. French. No abstract available.

PMID:
16142115
[PubMed - indexed for MEDLINE]
20.

A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome.

Kobayashi H, Kasahara M, Hino M, Takahara S, Ikeda K, Son C, Iwakura T, Matsuoka N, Yoshimoto A, Ohgo N, Kasai R, Ishihara T, Ogawa Y.

J Endocrinol Invest. 2007 Mar;30(3):263-5. No abstract available.

PMID:
17505164
[PubMed - indexed for MEDLINE]

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