206 related articles for article (PubMed ID: 31129707)
21. Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor.
Correa Llano MG; Mora J; Torner F; Inarejos E; Cruz O
J Pediatr Hematol Oncol; 2020 Apr; 42(3):e185-e187. PubMed ID: 30951020
[TBL] [Abstract][Full Text] [Related]
22. [A twelve-year-old teenager with bone pain and white papules].
Champion V; Gérard M; Reinert P; Soria I
Arch Pediatr; 2005 Jul; 12(7):1124-8. PubMed ID: 15964529
[TBL] [Abstract][Full Text] [Related]
23. Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.
Debeer P; Pykels E; Lammens J; Devriendt K; Fryns JP
Am J Med Genet A; 2003 Jun; 119A(2):188-93. PubMed ID: 12749062
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis.
Happle R
Am J Med Genet A; 2004 Mar; 125A(3):221-3. PubMed ID: 14994228
[TBL] [Abstract][Full Text] [Related]
27. Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.
Xu Z; Yang C; Xue R
J Cutan Pathol; 2021 Jan; 48(1):77-80. PubMed ID: 32519343
[TBL] [Abstract][Full Text] [Related]
28. Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Jha S; Fratzl-Zelman N; Roschger P; Papadakis GZ; Cowen EW; Kang H; Lehky TJ; Alter K; Deng Z; Ivovic A; Flynn L; Reynolds JC; Dasgupta A; Miettinen M; Lange E; Katz J; Klaushofer K; Marini JC; Siegel RM; Bhattacharyya T
J Bone Miner Res; 2019 Jan; 34(1):145-156. PubMed ID: 30138550
[TBL] [Abstract][Full Text] [Related]
29. Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field.
Zdral S; Trujillo-Tiebas MJ
Int J Paleopathol; 2021 Sep; 34():20-28. PubMed ID: 34098227
[TBL] [Abstract][Full Text] [Related]
30. A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.
De Ridder R; Boudin E; Zillikens MC; Ibrahim J; van der Eerden BCJ; Van Hul W; Mortier G
Bone; 2020 Aug; 137():115406. PubMed ID: 32387835
[TBL] [Abstract][Full Text] [Related]
31. Aneurysmal bone cyst-like changes developed in melorheostosis with epiphyseal osteopoikilosis.
Spinnato P; Colangeli M; Pedrini E; Parmeggiani A; Papalexis N; Crombé A; Gambarotti M; Bazzocchi A
Skeletal Radiol; 2024 Jul; 53(7):1437-1441. PubMed ID: 38015230
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H; Jha S; Ivovic A; Fratzl-Zelman N; Deng Z; Mitra A; Cabral WA; Hanson EP; Lange E; Cowen EW; Katz J; Roschger P; Klaushofer K; Dale RK; Siegel RM; Bhattacharyya T; Marini JC
J Exp Med; 2020 May; 217(5):. PubMed ID: 32232430
[TBL] [Abstract][Full Text] [Related]
34. 99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis.
Whyte MP; Murphy WA; Siegel BA
Radiology; 1978 May; 127(2):439-43. PubMed ID: 205901
[TBL] [Abstract][Full Text] [Related]
35. [4 cases of osteopoikilosis and a case of melorheostosis].
Maeda N; Doko S; Yamamoto H; Fukunaga H; Morita R; Torizuka K
Rinsho Hoshasen; 1980 Dec; 25(13):1385-8. PubMed ID: 7186946
[No Abstract] [Full Text] [Related]
36. Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants.
Frost M; Rahbek ET; Ejersted C; Høilund-Carlsen PF; Bygum A; Thomsen JS; Andreasen CM; Andersen TL; Frederiksen AL
Bone; 2020 Jun; 135():115313. PubMed ID: 32151766
[TBL] [Abstract][Full Text] [Related]
37. Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.
Fratzl-Zelman N; Roschger P; Kang H; Jha S; Roschger A; Blouin S; Deng Z; Cabral WA; Ivovic A; Katz J; Siegel RM; Klaushofer K; Fratzl P; Bhattacharyya T; Marini JC
J Bone Miner Res; 2019 May; 34(5):883-895. PubMed ID: 30667555
[TBL] [Abstract][Full Text] [Related]
38. [Melorheostosis, osteopoikilosis and ostiopathia striata. Their clinical significance and the value of scintigraphy in the differential diagnosis].
Michiels I; Schaub T; Scheinzabach M
Beitr Orthop Traumatol; 1990 Jun; 37(6):317-30. PubMed ID: 2386475
[TBL] [Abstract][Full Text] [Related]
39. Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.
Kratzsch J; Mitter D; Ziemer M; Kohlhase J; Voth H
JAMA Dermatol; 2016 Jul; 152(7):844-5. PubMed ID: 27007781
[No Abstract] [Full Text] [Related]
40. Somatic activating mutations in MAP2K1 cause melorheostosis.
Kang H; Jha S; Deng Z; Fratzl-Zelman N; Cabral WA; Ivovic A; Meylan F; Hanson EP; Lange E; Katz J; Roschger P; Klaushofer K; Cowen EW; Siegel RM; Marini JC; Bhattacharyya T
Nat Commun; 2018 Apr; 9(1):1390. PubMed ID: 29643386
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]