144 related articles for article (PubMed ID: 35186389)
1. A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M; Al-Hosni A; Maimani AA
J Pediatr Genet; 2022 Mar; 11(1):42-46. PubMed ID: 35186389
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Current research on pycnodysostosis.
Turan S
Intractable Rare Dis Res; 2014 Aug; 3(3):91-3. PubMed ID: 25364650
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Arman A; Bereket A; Coker A; Kiper PÖ; Güran T; Ozkan B; Atay Z; Akçay T; Haliloglu B; Boduroglu K; Alanay Y; Turan S
Orphanet J Rare Dis; 2014 Apr; 9():60. PubMed ID: 24767306
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Sayed Amr K; El-Bassyouni HT; Abdel Hady S; Mostafa MI; Mehrez MI; Coviello D; El-Kamah GY
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680947
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
Xue Y; Wang L; Xia D; Li Q; Gao S; Dong M; Cai T; Shi S; He L; Hu K; Mao T; Duan X
J Dent Res; 2015 May; 94(5):674-81. PubMed ID: 25731711
[TBL] [Abstract][Full Text] [Related]
19. Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis.
Li HY; Ma HW; Wang HQ; Ma WH
J Int Med Res; 2009; 37(1):264-9. PubMed ID: 19215700
[TBL] [Abstract][Full Text] [Related]
20. Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
Roy S; Das Chakraborty S; Biswas S
FEBS J; 2018 Nov; 285(22):4265-4280. PubMed ID: 30199612
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]