1 |
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
62
5
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Hellemans J...Mortier GR
|
15489854 |
2004 |
2 |
Buschke-Ollendorff syndrome.
53
62
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Hassikou H...Hadri L
|
18313966 |
2008 |
3 |
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
53
62
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Mumm S...Whyte MP
|
17087626 |
2007 |
4 |
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.
53
62
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Lin F...Worman HJ
|
15601644 |
2005 |
5 |
Spinal vertebral osteopoikilosis: A case report.
62
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Yang YF...Zheng BW
|
35599119 |
2022 |
6 |
Osteopoikilosis: benign bone islands in periarticular bones.
62
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Chou TA...Hsiao CH
|
36087936 |
2022 |
7 |
Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.
62
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Hung WK...Yang CY
|
35642708 |
2022 |
8 |
Osteopoikilosis - the importance of recognizing a rare but benign bone disorder.
62
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Nascimento AF...Araujo FC
|
35810377 |
2022 |
9 |
Osteopoikilosis.
62
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Mukai T...Morita Y
|
33989397 |
2022 |
10 |
Mimics of Erdheim-Chester disease.
62
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Abeykoon JP...Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group
|
34799853 |
2022 |
11 |
Case report of Osteopoikilosis in patient with psoriatic arthritis.
62
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Cherif I...Hamdi W
|
35059199 |
2022 |
12 |
Osteopoikilosis with bony deformities of the right toes in a female child: Case report.
62
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Swed S...Abd W
|
34601316 |
2021 |
13 |
Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field.
62
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Zdral S...Trujillo-Tiebas MJ
|
34098227 |
2021 |
14 |
How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases.
62
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Gresky J...Petiti E
|
33813348 |
2021 |
15 |
Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report.
62
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Chang YY...Lin WH
|
33888114 |
2021 |
16 |
Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.
62
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Panchal SR...Mohanty T
|
34239839 |
2021 |
17 |
Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.
62
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Gaudio A...Castellino P
|
33598273 |
2021 |
18 |
Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.
62
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Xu Z...Xue R
|
32519343 |
2021 |
19 |
Atypical Enostoses-Series of Ten Cases and Literature Review.
62
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Bedard T...Damron TA
|
33065973 |
2020 |
20 |
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.
62
|
Frost M...Frederiksen AL
|
32151766 |
2020 |
21 |
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor.
62
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Correa Llano MG...Cruz O
|
30951020 |
2020 |
22 |
Low back pain and osteosclerotic bone lesions suggestive of metastases: a mask of osteopoikilosis.
62
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Syrycka J...Bolanowski M
|
31976926 |
2020 |
23 |
Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease.
62
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Diotallevi F...Offidani A
|
32206820 |
2020 |
24 |
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome.
62
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Velasco Huici R...Monteagudo C
|
31943321 |
2020 |
25 |
Small Cell Prostate Cancer with Atypical Presentation -A Case Report and Review of Literature.
62
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Purohit S...Raj A
|
32953655 |
2020 |
26 |
Osteopoikilosis.
62
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Liu S...Wang Y
|
31371461 |
2019 |
27 |
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.
62
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Yamamoto A...Abe S
|
31853371 |
2019 |
28 |
[Osteopoikilosis. A case report].
62
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Sevilla Homedes C...Josa Eritja M
|
30389430 |
2019 |
29 |
Osteopoikilosis hiding active sacroiliitis in Psoriatic Arthritis.
62
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Crepaldi G...Lomater C
|
31323675 |
2019 |
30 |
Osteopoikilosis-Incidental Finding in the Emergency Department.
62
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Luke U...Dumont C
|
31617484 |
2019 |
31 |
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
62
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Gnoli M...Sangiorgi L
|
31129707 |
2019 |
32 |
Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report.
62
|
Joseph RO...Shenoy P
|
31087523 |
2019 |
33 |
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
62
|
Wordsworth P...Chan M
|
30989250 |
2019 |
34 |
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis.
62
|
|
30430792 |
2019 |
35 |
Osteopoikilosis: case series from Portuguese Rheumatology Centers.
62
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Madeira N...Miranda LC
|
31249279 |
2019 |
36 |
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.
62
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Elmaogullari S...Ucakturk SA
|
31990479 |
2019 |
37 |
Structural basis for receptor-regulated SMAD recognition by MAN1.
62
|
Miyazono KI...Tanokura M
|
30321401 |
2018 |
38 |
Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding.
62
|
Botwin A...Wasyliw C
|
30430046 |
2018 |
39 |
[Radiological Findings in Osteopoikilosis].
62
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Al-Bourini O...Wienbeck S
|
29763949 |
2018 |
40 |
[An X-ray with a suprise: Osteopoikilosis].
62
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Alvargonzalez M...Quispe C
|
28579321 |
2018 |
41 |
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis.
62
|
Silov G...Karacavus S
|
29393055 |
2018 |
42 |
Two cases of mimics of bone metastasis in breast cancer.
62
|
Tin AW...Naisby G
|
30363150 |
2018 |
43 |
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report.
62
|
Doshi K...Shetty MS
|
29854696 |
2018 |
44 |
Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis.
62
|
Yoo IY...Min YK
|
28840995 |
2017 |
45 |
[Extensive connective tissue nevus in children].
62
|
Lafargue O...Dompmartin A
|
28760502 |
2017 |
46 |
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report.
62
|
Ye C...Dai M
|
29381938 |
2017 |
47 |
Melorheostosis: a Rare Sclerosing Bone Dysplasia.
62
|
Kotwal A...Clarke BL
|
28676968 |
2017 |
48 |
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
62
|
Whyte MP...Mardis ER
|
28434888 |
2017 |
49 |
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
62
|
Fischetto R...Papadia F
|
28407409 |
2017 |
50 |
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT.
62
|
Prado Wohlwend S...Martinez Carsi C
|
27329562 |
2017 |