| 1 |
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
61
6
|
Hellemans J...Mortier GR
|
15489854 |
2004 |
| 2 |
Buschke-Ollendorff syndrome.
61
54
|
Hassikou H...Hadri L
|
18313966 |
2008 |
| 3 |
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
61
54
|
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.
54
61
|
Lin F...Worman HJ
|
15601644 |
2005 |
| 5 |
Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.
61
|
Gaudio A...Castellino P
|
33598273 |
2021 |
| 6 |
Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.
61
|
Xu Z...Xue R
|
32519343 |
2021 |
| 7 |
Atypical Enostoses-Series of Ten Cases and Literature Review.
61
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Bedard T...Damron TA
|
33065973 |
2020 |
| 8 |
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.
61
|
Frost M...Frederiksen AL
|
32151766 |
2020 |
| 9 |
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor.
61
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Correa Llano MG...Cruz O
|
30951020 |
2020 |
| 10 |
Low back pain and osteosclerotic bone lesions suggestive of metastases: a mask of osteopoikilosis.
61
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Syrycka J...Bolanowski M
|
31976926 |
2020 |
| 11 |
Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease.
61
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Diotallevi F...Offidani A
|
32206820 |
2020 |
| 12 |
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome.
61
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Velasco Huici R...Monteagudo C
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31943321 |
2020 |
| 13 |
Small Cell Prostate Cancer with Atypical Presentation -A Case Report and Review of Literature.
61
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Purohit S...Raj A
|
32953655 |
2020 |
| 14 |
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.
61
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Yamamoto A...Abe S
|
31853371 |
2019 |
| 15 |
Osteopoikilosis.
61
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Liu S...Wang Y
|
31371461 |
2019 |
| 16 |
[Osteopoikilosis. A case report].
61
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Sevilla Homedes C...Josa Eritja M
|
30389430 |
2019 |
| 17 |
Osteopoikilosis hiding active sacroiliitis in Psoriatic Arthritis.
61
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Crepaldi G...Lomater C
|
31323675 |
2019 |
| 18 |
Osteopoikilosis-Incidental Finding in the Emergency Department.
61
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Luke U...Dumont C
|
31617484 |
2019 |
| 19 |
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
61
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Gnoli M...Sangiorgi L
|
31129707 |
2019 |
| 20 |
Osteopoikilosis and ankylosing spondylitis: Strange bedfellows: A case report.
61
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Joseph RO...Shenoy P
|
31087523 |
2019 |
| 21 |
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
61
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Wordsworth P...Chan M
|
30989250 |
2019 |
| 22 |
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis.
61
|
|
30430792 |
2019 |
| 23 |
Osteopoikilosis: case series from Portuguese Rheumatology Centers.
61
|
Madeira N...Miranda LC
|
31249279 |
2019 |
| 24 |
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.
61
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Elmaogullari S...Ucakturk SA
|
31990479 |
2019 |
| 25 |
Structural basis for receptor-regulated SMAD recognition by MAN1.
61
|
Miyazono KI...Tanokura M
|
30321401 |
2018 |
| 26 |
Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding.
61
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Botwin A...Wasyliw C
|
30430046 |
2018 |
| 27 |
[Radiological Findings in Osteopoikilosis].
61
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Al-Bourini O...Wienbeck S
|
29763949 |
2018 |
| 28 |
[An X-ray with a suprise: Osteopoikilosis].
61
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Alvargonzalez M...Quispe C
|
28579321 |
2018 |
| 29 |
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis.
61
|
Silov G...Karacavus S
|
29393055 |
2018 |
| 30 |
Two cases of mimics of bone metastasis in breast cancer.
61
|
Tin AW...Naisby G
|
30363150 |
2018 |
| 31 |
Enchondroma with Osteopoikilosis Coexisting Together -A Rare Clinical and Radiological Case Report.
61
|
Doshi K...Shetty MS
|
29854696 |
2018 |
| 32 |
Novel 4-bp Intronic Deletion (c.1560+5_1560+8del) [corrected] in LEMD3 in a Korean Patient With Osteopoikilosis.
61
|
Yoo IY...Min YK
|
28840995 |
2017 |
| 33 |
Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report.
61
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Ye C...Dai M
|
29381938 |
2017 |
| 34 |
[Extensive connective tissue nevus in children].
61
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Lafargue O...Dompmartin A
|
28760502 |
2017 |
| 35 |
Melorheostosis: a Rare Sclerosing Bone Dysplasia.
61
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Kotwal A...Clarke BL
|
28676968 |
2017 |
| 36 |
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
61
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Whyte MP...Mardis ER
|
28434888 |
2017 |
| 37 |
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
61
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Fischetto R...Papadia F
|
28407409 |
2017 |
| 38 |
Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT.
61
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Prado Wohlwend S...Martinez Carsi C
|
27329562 |
2017 |
| 39 |
[Incidental findings in musculoskeletal radiology].
61
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Wunnemann F...Weber MA
|
28289785 |
2017 |
| 40 |
[68Ga]PSMA-HBED-CC PET/CT to differentiate between diffuse bone metastases of prostate cancer and osteopoikilosis.
61
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Behrendt F...Verburg FA
|
27922151 |
2016 |
| 41 |
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
61
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Teboul-Core S...Sellam J
|
27631079 |
2016 |
| 42 |
Elastoma: clinical and histopathological aspects of a rare disease.
61
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Maciel MG...Cestari SD
|
28300889 |
2016 |
| 43 |
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.
61
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Brodbeck M...Gruenert J
|
27267960 |
2016 |
| 44 |
Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.
61
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Boulet C...De Maeseneer M
|
26898950 |
2016 |
| 45 |
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
61
|
Zhang Q...Jin P
|
26694706 |
2016 |
| 46 |
Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review.
61
|
Tsai SY...Wu YW
|
27281099 |
2016 |
| 47 |
[Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases].
61
|
Yu WJ...Cheng LG
|
27534091 |
2016 |
| 48 |
Buschke-Ollendorff syndrome: a novel case series and systematic review.
61
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Pope V...Lara-Corrales I
|
26708699 |
2016 |
| 49 |
Osteopoikilosis Occurring in the Skull.
61
|
Okada A...Takenaka H
|
27725561 |
2016 |
| 50 |
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.
61
|
Korman B...Varga J
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27382493 |
2016 |
