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 *

152 related articles for article (PubMed ID: 14608646)

  • 1. RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
    Nakashima E; Mabuchi A; Kashimada K; Onishi T; Zhang J; Ohashi H; Nishimura G; Ikegawa S
    Am J Med Genet A; 2003 Dec; 123A(3):253-6. PubMed ID: 14608646
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.
    Muñoz-Robles J; Allende LM; Clemente J; Calleja S; Varela P; Gonzalez L; de Pablos P; Paz E; Morales P
    Immunobiology; 2006; 211(9):753-7. PubMed ID: 17015150
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
    Hirose Y; Nakashima E; Ohashi H; Mochizuki H; Bando Y; Ogata T; Adachi M; Toba E; Nishimura G; Ikegawa S
    J Hum Genet; 2006; 51(8):706-710. PubMed ID: 16832578
    [TBL] [Abstract][Full Text] [Related]  

  • 5. RMRP mutations in cartilage-hair hypoplasia.
    Hermanns P; Tran A; Munivez E; Carter S; Zabel B; Lee B; Leroy JG
    Am J Med Genet A; 2006 Oct; 140(19):2121-30. PubMed ID: 16838329
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
    Ridanpää M; van Eenennaam H; Pelin K; Chadwick R; Johnson C; Yuan B; vanVenrooij W; Pruijn G; Salmela R; Rockas S; Mäkitie O; Kaitila I; de la Chapelle A
    Cell; 2001 Jan; 104(2):195-203. PubMed ID: 11207361
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
    Bonafé L; Dermitzakis ET; Unger S; Greenberg CR; Campos-Xavier BA; Zankl A; Ucla C; Antonarakis SE; Superti-Furga A; Reymond A
    PLoS Genet; 2005 Oct; 1(4):e47. PubMed ID: 16244706
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
    Uchida N; Ishii T; Nishimura G; Sato T; Kuratsuji G; Nagasaki K; Hosokawa Y; Adachi E; Takasawa K; Kashimada K; Tsujioka Y; Hasegawa T
    Am J Med Genet A; 2024 Jun; 194(6):e63562. PubMed ID: 38337186
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
    Nakashima E; Tran JR; Welting TJ; Pruijn GJ; Hirose Y; Nishimura G; Ohashi H; Schurman SH; Cheng J; Candotti F; Nagaraja R; Ikegawa S; Schlessinger D
    Am J Med Genet A; 2007 Nov; 143A(22):2675-81. PubMed ID: 17937437
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling.
    Sun X; Zhang R; Liu M; Chen H; Chen L; Luo F; Zhang D; Huang J; Li F; Ni Z; Qi H; Su N; Jin M; Yang J; Tan Q; Du X; Chen B; Huang H; Chen S; Yin L; Xu X; Deng C; Luo L; Xie Y; Chen L
    J Bone Miner Res; 2019 Nov; 34(11):2101-2116. PubMed ID: 31237961
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An effective case of growth hormone treatment on cartilage-hair hypoplasia.
    Harada D; Yamanaka Y; Ueda K; Shimizu J; Inoue M; Seino Y; Tanaka H
    Bone; 2005 Feb; 36(2):317-22. PubMed ID: 15780958
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.
    Narayanan DL; Shukla A; Siddesh AR; Stephen J; Srivastava P; Mandal K; Phadke SR
    Indian J Pediatr; 2016 Sep; 83(9):1003-5. PubMed ID: 26830278
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
    Ridanpää M; Ward LM; Rockas S; Särkioja M; Mäkelä H; Susic M; Glorieux FH; Cole WG; Mäkitie O
    J Med Genet; 2003 Oct; 40(10):741-6. PubMed ID: 14569119
    [TBL] [Abstract][Full Text] [Related]  

  • 20. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
    Bonafé L; Schmitt K; Eich G; Giedion A; Superti-Furga A
    Clin Genet; 2002 Feb; 61(2):146-51. PubMed ID: 11940090
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.