50 related articles for article (PubMed ID: 25304337)
1. Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.
Razmara E; Azimi H; Bitaraf A; Daneshmand MA; Galehdari M; Dokhanchi M; Esmaeilzadeh-Gharehdaghi E; Garshasbi M
Mol Genet Genomic Med; 2020 Mar; 8(3):e1118. PubMed ID: 31944631
[TBL] [Abstract][Full Text] [Related]
2. Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.
Girbal I; Nunes T; Medeira A; Bandeira T
BMJ Case Rep; 2013 Sep; 2013():. PubMed ID: 24057333
[TBL] [Abstract][Full Text] [Related]
3. Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.
Moroni A; Brizola E; Di Cecco A; Tremosini M; Sergiampietri M; Bianchi A; Tappino B; Piana M; Gnoli M
Eur J Med Genet; 2024 Feb; 67():104904. PubMed ID: 38141876
[TBL] [Abstract][Full Text] [Related]
4. Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.
Kannan P; A HB; N MP; D TK; Ramanathan G; Eswaramoorthy R; Ramasamy M
J Biomol Struct Dyn; 2024 May; 42(8):4121-4132. PubMed ID: 37255004
[TBL] [Abstract][Full Text] [Related]
5. Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters.
Sousa M; Prata AR; Maduro AI; Sousa SB; Malcata A
Joint Bone Spine; 2023 Jul; 90(4):105547. PubMed ID: 36806543
[No Abstract] [Full Text] [Related]
6. Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.
Sharma A; Upmanyu A; Parate AR; Kasat VO
J Oral Biol Craniofac Res; 2021; 11(4):529-535. PubMed ID: 34377661
[TBL] [Abstract][Full Text] [Related]
7. Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.
Bocchi MB; Giuli C; Farine F; Ravaioli C; Martellini S; Farsetti P; Palmacci O
J Clin Med; 2024 Apr; 13(9):. PubMed ID: 38731051
[No Abstract] [Full Text] [Related]
8. A patient with pycnodysostosis presenting with seizures and porencephalic cysts.
Kumar S
J Neurosci Rural Pract; 2014 Jul; 5(3):284-6. PubMed ID: 25002775
[TBL] [Abstract][Full Text] [Related]
9. Challenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn.
Persiani P; Martini L; Calogero V; Formica VM; Giannini E; Speziale Varsamis T; Celli M; Zambrano A; De Meo D; Villani C
J Orthop Sci; 2023 Nov; 28(6):1412-1417. PubMed ID: 34083087
[No Abstract] [Full Text] [Related]
10. Current research on pycnodysostosis.
Turan S
Intractable Rare Dis Res; 2014 Aug; 3(3):91-3. PubMed ID: 25364650
[TBL] [Abstract][Full Text] [Related]
11. A Novel Variant c.847T>C in
Kochar IPS; Sethi A; Ahamad A
Clin Med Insights Case Rep; 2019; 12():1179547619837234. PubMed ID: 30967749
[TBL] [Abstract][Full Text] [Related]
12. Pycnodysostosis: Novel Variants in
Shambhavi A; Salian S; Shah H; Nair M; Sharan K; Jin DK; Cho SY; Mathew M; Shukla A; Girisha KM
J Pediatr Genet; 2018 Mar; 7(1):9-13. PubMed ID: 29441215
[TBL] [Abstract][Full Text] [Related]
13. Genetics of Osteopetrosis.
Palagano E; Menale C; Sobacchi C; Villa A
Curr Osteoporos Rep; 2018 Feb; 16(1):13-25. PubMed ID: 29335834
[TBL] [Abstract][Full Text] [Related]
14. Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.
Drake MT; Clarke BL; Oursler MJ; Khosla S
Endocr Rev; 2017 Aug; 38(4):325-350. PubMed ID: 28651365
[TBL] [Abstract][Full Text] [Related]
15. Novel mutation and white matter involvement in an Indian child with pycnodysostosis.
Singh A; Cuevas-Covarrubias S; Pradhan G; Gautam VK; Messina-Baas O; Gonzalez-Huerta LM; Goyal M; Kapoor S
Indian J Pediatr; 2015 May; 82(5):471-3. PubMed ID: 25304337
[TBL] [Abstract][Full Text] [Related]
16. Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.
Utokpat P; Panmontha W; Tongkobpetch S; Suphapeetiporn K; Shotelersuk V
Pediatr Int; 2013 Oct; 55(5):651-5. PubMed ID: 24134756
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.
Sait H; Srivastava P; Gupta N; Kabra M; Kapoor S; Ranganath P; Rungsung I; Mandal K; Saxena D; Dalal A; Roy A; Pabbati J; Phadke SR
Eur J Med Genet; 2021 Jul; 64(7):104235. PubMed ID: 33945887
[TBL] [Abstract][Full Text] [Related]
18. Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
Toral-López J; Gonzalez-Huerta LM; Sosa B; Orozco S; González HP; Cuevas-Covarrubias SA
J Investig Med; 2011 Feb; 59(2):277-80. PubMed ID: 21099701
[TBL] [Abstract][Full Text] [Related]
19. Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
Xue Y; Cai T; Shi S; Wang W; Zhang Y; Mao T; Duan X
Orphanet J Rare Dis; 2011 May; 6():20. PubMed ID: 21569238
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
