174 related articles for article (PubMed ID: 20814951)
1. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.
Bertola D; Amaral C; Kim C; Albano L; Aguena M; Passos-Bueno MR
Am J Med Genet A; 2010 Oct; 152A(10):2599-603. PubMed ID: 20814951
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?
Thomas GPL; Magdum SA; Saeed NR; Johnson D
J Craniofac Surg; 2019 Jan; 30(1):110-114. PubMed ID: 30394969
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT.
Perlyn CA; DeLeon VB; Babbs C; Govier D; Burell L; Darvann T; Kreiborg S; Morriss-Kay G
Cleft Palate Craniofac J; 2006 Nov; 43(6):740-8. PubMed ID: 17105336
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Minor Suture Fusion in Syndromic Craniosynostosis.
Runyan CM; Xu M D W; Alperovich M; Massie M D JP; Paek G; Cohen BA; Staffenberg DA; Flores RL; Taylor JA
Plast Reconstr Surg; 2017 Sep; 140(3):434e-445e. PubMed ID: 28574949
[TBL] [Abstract][Full Text] [Related]
12. The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba AM; Faqeih E; Saleh MA; Ramzan K; Imtiaz F; Al-Owain M; Alhashem AM; Alswaid A
Am J Med Genet A; 2021 Aug; 185(8):2455-2463. PubMed ID: 33963797
[TBL] [Abstract][Full Text] [Related]
13. Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".
Neuhäuser G; Kaveggia EG; Opitz JM
Eur J Pediatr; 1976 Aug; 123(1):15-28. PubMed ID: 954768
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Craniosynostosis: A rare complication of pycnodysostosis.
Osimani S; Husson I; Passemard S; Elmaleh M; Perrin L; Quelin C; Marey I; Delalande O; Filocamo M; Verloes A
Eur J Med Genet; 2010; 53(2):89-92. PubMed ID: 20044043
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Current research on pycnodysostosis.
Turan S
Intractable Rare Dis Res; 2014 Aug; 3(3):91-3. PubMed ID: 25364650
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Sagittal suture craniosynostosis or craniosynostoses? The heterogeneity of the most common premature fusion of the cranial sutures.
Di Rocco F; Gleizal A; Szathmari A; Beuriat PA; Paulus C; Mottolese C
Neurochirurgie; 2019 Nov; 65(5):232-238. PubMed ID: 31563615
[TBL] [Abstract][Full Text] [Related]
20. Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.
Moazen M; Hejazi M; Savery D; Jones D; Marghoub A; Alazmani A; Pauws E
Sci Rep; 2022 Jun; 12(1):9693. PubMed ID: 35690633
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
