145 related articles for article (PubMed ID: 26694706)
1. Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
Zhang Q; Mo ZH; Dong CS; Yang F; Xie YH; Jin P
J Endocrinol Invest; 2016 Jun; 39(6):679-85. PubMed ID: 26694706
[TBL] [Abstract][Full Text] [Related]
2. 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; 11():110. PubMed ID: 20618940
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 17622481
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 17087626
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 19438932
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16470551
[TBL] [Abstract][Full Text] [Related]
7. 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; 28(4):447-50. PubMed ID: 20678097
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19862465
[TBL] [Abstract][Full Text] [Related]
9. Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis.
Yoo IY; Song JS; Ki CS; Kim JW; Cha HS; Min YK
Ann Lab Med; 2017 Nov; 37(6):540-543. PubMed ID: 28840995
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 15489854
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 20083694
[TBL] [Abstract][Full Text] [Related]
12. 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; 20(6):693-7. PubMed ID: 20732851
[TBL] [Abstract][Full Text] [Related]
13. Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
Gutierrez D; Cooper KD; Mitchell AL; Cohn HI
Pediatr Dermatol; 2015; 32(5):e219-20. PubMed ID: 26135202
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 18489034
[No Abstract] [Full Text] [Related]
15. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.
Elmaoğulları S; Yıldız AE; Demir S; Gürkan H; Uçaktürk SA
Turk J Pediatr; 2019; 61(4):594-598. PubMed ID: 31990479
[TBL] [Abstract][Full Text] [Related]
16. The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.
Brodbeck M; Yousif Q; Diener PA; Zweier M; Gruenert J
BMC Res Notes; 2016 Jun; 9():294. PubMed ID: 27267960
[TBL] [Abstract][Full Text] [Related]
17. LEMD3: the gene responsible for bone density disorders (osteopoikilosis).
Ben-Asher E; Zelzer E; Lancet D
Isr Med Assoc J; 2005 Apr; 7(4):273-4. PubMed ID: 15847215
[No Abstract] [Full Text] [Related]
18. Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.
Korman B; Wei J; Laumann A; Ferguson P; Varga J
Case Rep Dermatol Med; 2016; 2016():2483041. PubMed ID: 27382493
[TBL] [Abstract][Full Text] [Related]
19. Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?
Condorelli A; Musso N; Scuderi L; Condorelli DF; Barresi V; De Pasquale R
Pediatr Dermatol; 2017 Nov; 34(6):e345-e346. PubMed ID: 29023873
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 21985280
[No Abstract] [Full Text] [Related]
[Next] [New Search]
