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Items: 1 to 20 of 31

1.
Winchester syndrome
G. Matthiesen, V. Faurholt Pedersen, P. Helin, G. Krag Jacobsen, N. Søe Nielsen
Int Orthop. 2001 Oct; 25(5): 331–333. Published online 2001 Sep 11. doi: 10.1007/s002640100276
PMCID:
PMC3620798
SummaryPDF–36KCite
2.
Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome
Brad R. Evans, Rebecca A. Mosig, Mollie Lobl, Chiara R. Martignetti, Catalina Camacho, Valerie Grum-Tokars, Marc J. Glucksman, John A. Martignetti
Am J Hum Genet. 2012 Sep 7; 91(3): 572–576. doi: 10.1016/j.ajhg.2012.07.022
PMCID:
PMC3512002
ArticlePubReaderPDF–948KCite
3.
A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature
Marjan Shakiba, Fariba Alaei
Heliyon. 2023 Apr; 9(4): e14865. Published online 2023 Mar 24. doi: 10.1016/j.heliyon.2023.e14865
PMCID:
PMC10070892
ArticlePubReaderPDF–1.5MCite
4.
Clinical Radiological and Molecular Profile of a Patient Affected With Multicentric Osteolysis Nodulosis and Arthropathy
Eleftherios Mandragos, Dimitris Myrgiotis, Spyridon Strongylos, Yvonne-Mary Papamerkouriou, John Michelarakis
Cureus. 2021 Jul; 13(7): e16615. Published online 2021 Jul 25. doi: 10.7759/cureus.16615
PMCID:
PMC8396420
ArticlePubReaderPDF–1.9MCite
5.
Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
Hanan Elsebaie, Mohamed Abdelhafiz Mansour, Solaf M. Elsayed, Shady Mahmoud, Tamer A. El-Sobky
Bone Rep. 2021 Dec; 15: 101106. Published online 2021 Jul 10. doi: 10.1016/j.bonr.2021.101106
PMCID:
PMC8283316
ArticlePubReaderPDF–1.8MCite
6.
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy
Liisa Kröger, Tuija Löppönen, Leena Ala‐Kokko, Heikki Kröger, Hanna‐Mari Jauhonen, Kaisa Lehti, Jarmo Jääskeläinen
Mol Genet Genomic Med. 2019 Aug; 7(8): e802. Published online 2019 Jul 3. doi: 10.1002/mgg3.802
PMCID:
PMC6687624
ArticlePubReaderPDF–780KCite
7.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel
Hum Mol Genet. 2018 Aug 15; 27(16): 2775–2788. Published online 2018 May 8. doi: 10.1093/hmg/ddy168
PMCID:
PMC6077784
ArticlePubReaderPDF–1.6MCite
8.
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach
Karin Pichler, Daniela Karall, Dieter Kotzot, Elisabeth Steichen-Gersdorf, Alexandra Rümmele-Waibel, Laureane Mittaz-Crettol, Julia Wanschitz, Luisa Bonafé, Kathrin Maurer, Andrea Superti-Furga, Sabine Scholl-Bürgi
Sci Rep. 2016; 6: 34017. Published online 2016 Sep 30. doi: 10.1038/srep34017
PMCID:
PMC5043187
ArticlePubReaderPDF–878KCite
9.
Different roles of matrix metalloproteinase 2 in osteolysis of skeletal dysplasia and bone metastasis
Xiumao Li, Libin Jin, Yanbin Tan
Mol Med Rep. 2021 Jan; 23(1): 70. Published online 2020 Nov 20. doi: 10.3892/mmr.2020.11708
PMCID:
PMC7716421
ArticlePubReaderPDF–2.1MCite
10.
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz
BMC Musculoskelet Disord. 2023; 24: 735. Published online 2023 Sep 14. doi: 10.1186/s12891-023-06856-2
PMCID:
PMC10503101
ArticlePubReaderPDF–1.9MCite
11.
Taurodontism in dental genetics
Manogari Chetty, Imaan A. Roomaney, Peter Beighton
BDJ Open. 2021; 7: 25. Published online 2021 Jul 9. doi: 10.1038/s41405-021-00081-6
PMCID:
PMC8270984
ArticlePubReaderPDF–1.7MCite
12.
Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children
Hassan Sarker, Eugenio Hardy, Ayman Haimour, Mahmoud A. Karim, Sabine Scholl-Bürgi, John A. Martignetti, Lorenzo D. Botto, Carlos Fernandez-Patron
Front Physiol. 2020; 11: 568718. Published online 2020 Sep 25. doi: 10.3389/fphys.2020.568718
PMCID:
PMC7546215
ArticlePubReaderPDF–2.0MCite
13.
The diagnosis and management of patients with idiopathic osteolysis
Ali Al Kaissi, Sabine Scholl-Buergi, Rainer Biedermann, Kathrin Maurer, Jochen G Hofstaetter, Klaus Klaushofer, Franz Grill
Pediatr Rheumatol Online J. 2011; 9: 31. Published online 2011 Oct 13. doi: 10.1186/1546-0096-9-31
PMCID:
PMC3203843
ArticlePubReaderPDF–4.6MCite
14.
Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature
Alka V. Ekbote, Sumita Danda, Andreas Zankl, Kausik Mandal, Tina Maguire, Kobus Ungerer
J Clin Res Pediatr Endocrinol. 2014 Mar; 6(1): 40–46. Published online 2014 Mar 5. doi: 10.4274/Jcrpe.1166
PMCID:
PMC3986738
ArticlePubReaderPDF–124KCite
15.
Deciphering the Molecular Characteristics of Human Idiopathic Nonobstructive Azoospermia from the Perspective of Germ Cells
Yidong Chen, Xixi Liu, Li Zhang, Feiyin Zhu, Liying Yan, Wenhao Tang, Zhe Zhang, Qiang Liu, Hui Jiang, Jie Qiao
Adv Sci (Weinh) 2023 Jun; 10(17): 2206852. Published online 2023 Apr 21. doi: 10.1002/advs.202206852
PMCID:
PMC10265083
ArticlePubReaderPDF–5.8MCite
16.
Determining the expression levels of CSF‐1 and OCT4, CREM‐1, and protamine in testicular biopsies of adult Klinefelter patients: Their possible correlation with spermatogenesis
Maram Abofoul‐Azab, Eitan Lunenfeld, Sandra Kleiman, Shimi Barda, Ron Hauser, Mahmoud Huleihel
Andrologia. 2022 Nov; 54(10): e14558. Published online 2022 Aug 19. doi: 10.1111/and.14558
PMCID:
PMC9786270
ArticlePubReaderPDF–1.1MCite
17.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
Laura Kasak, Kristiina Lillepea, Liina Nagirnaja, Kenneth I Aston, Peter N Schlegel, João Gonçalves, Filipa Carvalho, Daniel Moreno-Mendoza, Kristian Almstrup, Michael L Eisenberg, Keith A Jarvi, Moira K O’Bryan, Alexandra M Lopes, Donald F Conrad, GEMINI Consortium , Margus Punab, Maris Laan
Hum Reprod. 2022 Jul; 37(7): 1652–1663. Published online 2022 May 10. doi: 10.1093/humrep/deac100
PMCID:
PMC9631463
ArticlePubReaderPDF–1.0MCite
18.
Whole-Exome Sequencing Identifies the VHL Mutation (c.262T > C, p.Try88Arg) in Non-Obstructive Azoospermia-Associated Cystic Renal Cell Carcinoma
Yonghong Man, Xuejun Shang, Chunyu Liu, Wei Zhang, Qian Huang, Suheng Ma, Rita Shiang, Feng Zhang, Ling Zhang, Zhibing Zhang
Curr Oncol. 2022 Apr; 29(4): 2376–2384. Published online 2022 Mar 28. doi: 10.3390/curroncol29040192
PMCID:
PMC9030033
ArticlePubReaderPDF–1.8MCite
19.
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia
Dongdong Tang, Kuokuo Li, Hao Geng, Chuan Xu, Mingrong Lv, Yang Gao, Guanxiong Wang, Hui Yu, Zhongmei Shao, Qunshan Shen, Hui Jiang, Xiansheng Zhang, Xiaojin He, Yunxia Cao
Reprod Biol Endocrinol. 2022; 20: 63. Published online 2022 Apr 2. doi: 10.1186/s12958-022-00936-z
Correction in:
Reprod Biol Endocrinol. 2022; 20: 79.
PMCID:
PMC8976310
ArticlePubReaderPDF–1.9MCite
20.
Genetics of Azoospermia
Francesca Cioppi, Viktoria Rosta, Csilla Krausz
Int J Mol Sci. 2021 Mar; 22(6): 3264. Published online 2021 Mar 23. doi: 10.3390/ijms22063264
PMCID:
PMC8004677
ArticlePubReaderPDF–1.4MCite

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