167 related articles for article (PubMed ID: 38141876)
1. 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]
2. Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Markova TV; Kenis V; Melchenko E; Guseva D; Osipova D; Galeeva N; Nagornova T; Dadali EL
Mol Genet Genomic Med; 2022 May; 10(5):e1904. PubMed ID: 35315254
[TBL] [Abstract][Full Text] [Related]
3. Short stature Revealing a Pycnodysostosis: A Case Report.
Aynaou H; Skiker I; Latrech H
J Orthop Case Rep; 2016; 6(2):43-45. PubMed ID: 27703936
[TBL] [Abstract][Full Text] [Related]
4. Pycnodysostosis at otorhinolaryngology.
Baglam T; Binnetoglu A; Fatih Topuz M; Baş Ikizoglu N; Ersu R; Turan S; Sarı M
Int J Pediatr Otorhinolaryngol; 2017 Apr; 95():91-96. PubMed ID: 28576543
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic evaluation of Danish patients with pycnodysostosis.
Doherty MA; Langdahl BL; Vogel I; Haagerup A
Eur J Med Genet; 2021 Feb; 64(2):104135. PubMed ID: 33429075
[TBL] [Abstract][Full Text] [Related]
6. Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features.
Caracas HP; Figueiredo PS; Mestrinho HD; Acevedo AC; Leite AF
Clin Dysmorphol; 2012 Jan; 21(1):19-21. PubMed ID: 21968522
[TBL] [Abstract][Full Text] [Related]
7. A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.
Song HK; Sohn YB; Choi YJ; Chung YS; Jang JH
Medicine (Baltimore); 2017 Mar; 96(12):e6367. PubMed ID: 28328823
[TBL] [Abstract][Full Text] [Related]
8. Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.
Otaify GA; Abdel-Hamid MS; Mehrez MI; Aboul-Ezz E; Zaki MS; Aglan MS; Temtamy SA
Osteoporos Int; 2018 Aug; 29(8):1833-1841. PubMed ID: 29796728
[TBL] [Abstract][Full Text] [Related]
9. Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.
Shi X; Huang C; Xiao F; Liu W; Zeng J; Li X
Medicine (Baltimore); 2017 Dec; 96(50):e8730. PubMed ID: 29390266
[TBL] [Abstract][Full Text] [Related]
10. Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.
Kshirsagar VY; Ahmed M; Nagarsenkar S; Sahoo K; Shah KB
Acta Med Acad; 2012; 41(2):214-8. PubMed ID: 23331396
[TBL] [Abstract][Full Text] [Related]
11. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
Hepp N; Frederiksen AL; Dunø M; Jørgensen NR; Langdahl B; Vedtofte P; Hove HB; Hindsø K; Jensen JB
Calcif Tissue Int; 2019 Dec; 105(6):681-686. PubMed ID: 31489468
[TBL] [Abstract][Full Text] [Related]
12. A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
Berenguer A; Freitas AP; Ferreira G; Nunes JL
BMJ Case Rep; 2012 Nov; 2012():. PubMed ID: 23175007
[TBL] [Abstract][Full Text] [Related]
13. A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
Huang X; Qi X; Li M; Wang O; Jiang Y; Xing X; Hu YY; Xia W
Calcif Tissue Int; 2015 May; 96(5):373-8. PubMed ID: 25725806
[TBL] [Abstract][Full Text] [Related]
14. Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.
Spencer C; Makka A; Singh S; McGuire J; Washaya N; Hein G; Zampoli M; Fieggen K
Front Oral Health; 2023; 4():1188443. PubMed ID: 37288425
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Atypical femur fractures in a patient with pycnodysostosis: a case report.
Hashem J; Krochak R; Culbertson MD; Mileto C; Goodman H
Osteoporos Int; 2015 Aug; 26(8):2209-12. PubMed ID: 26040945
[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. Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review.
de França GM; Felix FA; de Morais EF; Medeiros MRS; Andrade ACM; Galvão HC
Braz J Otorhinolaryngol; 2021; 87(5):620-628. PubMed ID: 33579598
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]