BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

72 related articles for article (PubMed ID: 9529353)

  • 1. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
    Gelb BD; Willner JP; Dunn TM; Kardon NB; Verloes A; Poncin J; Desnick RJ
    Am J Hum Genet; 1998 Apr; 62(4):848-54. PubMed ID: 9529353
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
    Hou WS; Brömme D; Zhao Y; Mehler E; Dushey C; Weinstein H; Miranda CS; Fraga C; Greig F; Carey J; Rimoin DL; Desnick RJ; Gelb BD
    J Clin Invest; 1999 Mar; 103(5):731-8. PubMed ID: 10074491
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
    Lesieur-Sebellin M; Marzin P; Arnoux JB; Maurin ML; Receveur A; Cantagrel V; Rose S; Dorval G; Levy J; Malan V
    Eur J Med Genet; 2023 Oct; 66(10):104848. PubMed ID: 37739061
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rare etiology of autosomal recessive disease in a child with noncarrier parents.
    Lebo RV; Shapiro LR; Fenerci EY; Hoover JM; Chuang JL; Chuang DT; Kronn DF
    Am J Hum Genet; 2000 Sep; 67(3):750-4. PubMed ID: 10915611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
    Shimojima Yamamoto K; Yoshimura A; Yamamoto T
    Hum Genome Var; 2023 Aug; 10(1):22. PubMed ID: 37550298
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder.
    Graw SL; Swisshelm K; Floyd K; Carstens BJ; Wamboldt MZ; Ross RG; Leonard S
    Mol Cytogenet; 2012 Jan; 5(1):2. PubMed ID: 22214315
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.
    Smith CS; Riddell M; Badalato L; Au PYB
    Am J Med Genet A; 2024 May; ():e63625. PubMed ID: 38741340
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SNCA-Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy.
    Zhang J; Liu Y; Zhao C
    Mov Disord; 2024 May; ():. PubMed ID: 38741289
    [No Abstract]   [Full Text] [Related]  

  • 10. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects.
    Field LL; Tobias R; Robinson WP; Paisey R; Bain S
    Am J Hum Genet; 1998 Oct; 63(4):1216-20. PubMed ID: 9758608
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the
    Boluda-Navarro M; Ibáñez M; Liquori A; Franco-Jarava C; Martínez-Gallo M; Rodríguez-Vega H; Teresa J; Carreras C; Such E; Zúñiga Á; Colobran R; Cervera JV
    Front Immunol; 2021; 12():625591. PubMed ID: 33868243
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.
    Kang P; Zhang W; Wen J; Zhang J; Li F; Sun W
    Front Pediatr; 2021; 9():630329. PubMed ID: 33816400
    [No 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. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
    Araujo TF; Ribeiro EM; Arruda AP; Moreno CA; de Medeiros PF; Minillo RM; Melo DG; Kim CA; Doriqui MJ; Felix TM; Fock RA; Cavalcanti DP
    Eur J Med Res; 2016 Aug; 21(1):33. PubMed ID: 27558267
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
    King JE; Dexter A; Gadi I; Zvereff V; Martin M; Bloom M; Vanderver A; Pizzino A; Schmidt JL
    J Genet Couns; 2014 Oct; 23(5):734-41. PubMed ID: 24777551
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
    Bai S; Lozada A; Jones MC; Dietz HC; Dempsey M; Das S
    Case Rep Genet; 2014; 2014():508231. PubMed ID: 24639906
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
    Matsushita M; Kitoh H; Kaneko H; Mishima K; Itoh Y; Hattori T; Ishiguro N
    Mol Syndromol; 2012 Apr; 2(6):254-258. PubMed ID: 22822386
    [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. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
    Manoli I; Golas G; Westbroek W; Vilboux T; Markello TC; Introne W; Maynard D; Pederson B; Tsilou E; Jordan MB; Hart PS; White JG; Gahl WA; Huizing M
    Am J Med Genet A; 2010 Jun; 152A(6):1474-83. PubMed ID: 20503323
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.