145 related articles for article (PubMed ID: 26694706)
21. Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Gnoli M; Staals EL; Campanacci L; Bedeschi MF; Faletra F; Gallone S; Gaudio A; Mattina T; Gurrieri F; Percesepe A; Neri I; Virdi A; Tremosini M; Milanesi A; Brizola E; Pedrini E; Sangiorgi L
Calcif Tissue Int; 2019 Aug; 105(2):215-221. PubMed ID: 31129707
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.
Takashima S; Fujita Y; Suzuki S; Saito N; Shinkuma S; Nomura T; Shimizu H
J Dermatol Sci; 2016 Mar; 81(3):205-8. PubMed ID: 26711937
[No Abstract] [Full Text] [Related]
24. Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.
Darr-Foit S; Schliemann S; Schulz S; Elsner P
J Dtsch Dermatol Ges; 2018 Mar; 16(3):348-349. PubMed ID: 29465813
[No Abstract] [Full Text] [Related]
25. Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis.
Silov G; Erdoğan Z; Erdoğan M; Özdal A; Gençer H; Akalın T; Karaçavuş S
Mol Imaging Radionucl Ther; 2018 Feb; 27(1):48-51. PubMed ID: 29393055
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 17505164
[No 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. 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]
29. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
Menten B; Buysse K; Zahir F; Hellemans J; Hamilton SJ; Costa T; Fagerstrom C; Anadiotis G; Kingsbury D; McGillivray BC; Marra MA; Friedman JM; Speleman F; Mortier G
J Med Genet; 2007 Apr; 44(4):264-8. PubMed ID: 17220210
[TBL] [Abstract][Full Text] [Related]
30. [Buschke-Ollendorff syndrome: inactivating mutation of the LEMD3 gene].
Dereure O
Ann Dermatol Venereol; 2005; 132(6-7 Pt 1):593. PubMed ID: 16142115
[No Abstract] [Full Text] [Related]
31. Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
Whyte MP; Griffith M; Trani L; Mumm S; Gottesman GS; McAlister WH; Krysiak K; Lesurf R; Skidmore ZL; Campbell KM; Rosman IS; Bayliss S; Bijanki VN; Nenninger A; Van Tine BA; Griffith OL; Mardis ER
Bone; 2017 Aug; 101():145-155. PubMed ID: 28434888
[TBL] [Abstract][Full Text] [Related]
32. [Osteopoikilosis - a family with five cases].
Zhou Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):404-5. PubMed ID: 24928029
[No Abstract] [Full Text] [Related]
33. Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
Wordsworth P; Chan M
Calcif Tissue Int; 2019 May; 104(5):530-543. PubMed ID: 30989250
[TBL] [Abstract][Full Text] [Related]
34. Melorheostosis: a Rare Sclerosing Bone Dysplasia.
Kotwal A; Clarke BL
Curr Osteoporos Rep; 2017 Aug; 15(4):335-342. PubMed ID: 28676968
[TBL] [Abstract][Full Text] [Related]
35. Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.
Hershkovitz D; Amitai B; Sprecher E
Br J Dermatol; 2007 Feb; 156(2):375-7. PubMed ID: 17223882
[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. Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
Waldmüller S; Sakthivel S; Saadi AV; Selignow C; Rakesh PG; Golubenko M; Joseph PK; Padmakumar R; Richard P; Schwartz K; Tharakan JM; Rajamanickam C; Vosberg HP
J Mol Cell Cardiol; 2003 Jun; 35(6):623-36. PubMed ID: 12788380
[TBL] [Abstract][Full Text] [Related]
38. Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
Demir K; Kattan WE; Zou M; Durmaz E; BinEssa H; Nalbantoğlu Ö; Al-Rijjal RA; Meyer B; Özkan B; Shi Y
PLoS One; 2015; 10(7):e0131376. PubMed ID: 26132292
[TBL] [Abstract][Full Text] [Related]
39. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
40. Identification of a new mutation in the hepatocyte nuclear factor-1alpha gene in a Polish family with early-onset type 2 diabetes mellitus.
Malecki MT; Klupa T; Frey J; Cyganek K; Galicka-Stankowska D; Wanic K; Sieradzki J
Diabetes Nutr Metab; 2001 Oct; 14(5):288-91. PubMed ID: 11806470
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
