These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

889 related articles for article (PubMed ID: 21396580)

  • 1. The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
    Thiel CT; Rauch A
    Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):131-42. PubMed ID: 21396580
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
    Thiel CT; Mortier G; Kaitila I; Reis A; Rauch A
    Am J Hum Genet; 2007 Sep; 81(3):519-29. PubMed ID: 17701897
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Anauxetic dysplasia: A rare clinical entity.
    Akgün-Doğan Ö; Şimsek-Kiper PÖ; Utine GE; Boduroğlu K
    Turk J Pediatr; 2018; 60(1):89-93. PubMed ID: 30102486
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.
    Horn J; Schlesier M; Warnatz K; Prasse A; Superti-Furga A; Peter HH; Salzer U
    Hum Immunol; 2010 Sep; 71(9):916-9. PubMed ID: 20538026
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.
    Crahes M; Saugier-Veber P; Patrier S; Aziz M; Pirot N; Brasseur-Daudruy M; Layet V; Frébourg T; Laquerrière A
    Eur J Med Genet; 2013 Jul; 56(7):365-70. PubMed ID: 23643676
    [TBL] [Abstract][Full Text] [Related]  

  • 6. RNase MRP and disease.
    Mattijssen S; Welting TJ; Pruijn GJ
    Wiley Interdiscip Rev RNA; 2010; 1(1):102-16. PubMed ID: 21956908
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
    Reicherter K; Veeramani AI; Jagadeesh S
    Indian Pediatr; 2011 Jul; 48(7):559-61. PubMed ID: 21813924
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.
    Vatanavicharn N; Visitsunthorn N; Pho-iam T; Jirapongsananuruk O; Pacharn P; Chokephaibulkit K; Limwongse C; Wasant P
    J Appl Genet; 2010; 51(4):523-8. PubMed ID: 21063072
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
    Hermanns P; Bertuch AA; Bertin TK; Dawson B; Schmitt ME; Shaw C; Zabel B; Lee B
    Hum Mol Genet; 2005 Dec; 14(23):3723-40. PubMed ID: 16254002
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutation in boy with cartilage-hair hypoplasia.
    Lin IC; Yu HR; Lin YJ; Wang TJ
    Pediatr Neonatol; 2010 Dec; 51(6):326-9. PubMed ID: 21146796
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
    Rogler LE; Kosmyna B; Moskowitz D; Bebawee R; Rahimzadeh J; Kutchko K; Laederach A; Notarangelo LD; Giliani S; Bouhassira E; Frenette P; Roy-Chowdhury J; Rogler CE
    Hum Mol Genet; 2014 Jan; 23(2):368-82. PubMed ID: 24009312
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.
    Park JH; Im M; Kim YJ; Jang JH; Lee SM; Kim MS; Cho SY
    Medicine (Baltimore); 2024 May; 103(21):e37247. PubMed ID: 38787970
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.
    Steinbusch MMF; Caron MMJ; Surtel DAM; Friedrich F; Lausch E; Pruijn GJM; Verhesen W; Schroen BLM; van Rhijn LW; Zabel B; Welting TJM
    Sci Rep; 2017 Jul; 7(1):6440. PubMed ID: 28743979
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
    Kavadas FD; Giliani S; Gu Y; Mazzolari E; Bates A; Pegoiani E; Roifman CM; Notarangelo LD
    J Allergy Clin Immunol; 2008 Dec; 122(6):1178-84. PubMed ID: 18804272
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
    Narayanan DL; Shukla A; Kausthubham N; Bhavani GS; Shah H; Mortier G; Girisha KM
    Am J Med Genet A; 2019 Sep; 179(9):1709-1717. PubMed ID: 31250547
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.
    Mattijssen S; Hinson ER; Onnekink C; Hermanns P; Zabel B; Cresswell P; Pruijn GJ
    Cell Mol Life Sci; 2011 Jul; 68(14):2469-80. PubMed ID: 21053045
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.
    Lugli L; Ciancia S; Bertucci E; Lucaccioni L; Calabrese O; Madeo S; Berardi A; Iughetti L
    Eur J Med Genet; 2021 Feb; 64(2):104136. PubMed ID: 33444820
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Decreased telomere length in children with cartilage-hair hypoplasia.
    Kostjukovits S; Degerman S; Pekkinen M; Klemetti P; Landfors M; Roos G; Taskinen M; Mäkitie O
    J Med Genet; 2017 May; 54(5):365-370. PubMed ID: 27986801
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.
    Hall CM; Liu B; Haworth A; Reed L; Pryce J; Mansour S
    Eur J Med Genet; 2021 Mar; 64(3):104162. PubMed ID: 33567347
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
    Barraza-García J; Rivera-Pedroza CI; Hisado-Oliva A; Belinchón-Martínez A; Sentchordi-Montané L; Duncan EL; Clark GR; Del Pozo A; Ibáñez-Garikano K; Offiah A; Prieto-Matos P; Cormier-Daire V; Heath KE
    Clin Genet; 2017 Jul; 92(1):91-98. PubMed ID: 28067412
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 45.