BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 33444820)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
    de la Fuente MA; Recher M; Rider NL; Strauss KA; Morton DH; Adair M; Bonilla FA; Ochs HD; Gelfand EW; Pessach IM; Walter JE; King A; Giliani S; Pai SY; Notarangelo LD
    J Allergy Clin Immunol; 2011 Jul; 128(1):139-146. PubMed ID: 21570718
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
    Aubert G; Strauss KA; Lansdorp PM; Rider NL
    J Allergy Clin Immunol; 2017 Oct; 140(4):1120-1129.e1. PubMed ID: 28126377
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.
    Singh A; Krishnan R; Bhattacharya M; Pradhan G; Salzer U; Kapoor S
    Indian J Gastroenterol; 2013 Nov; 32(6):409-12. PubMed ID: 23949991
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
    Vakkilainen S; Taskinen M; Mäkitie O
    Scand J Immunol; 2020 Oct; 92(4):e12913. PubMed ID: 32506568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
    Bonafé L; Liang J; Gorna MW; Zhang Q; Ha-Vinh R; Campos-Xavier AB; Unger S; Beckmann JS; Le Béchec A; Stevenson B; Giedion A; Liu X; Superti-Furga G; Wang W; Spahr A; Superti-Furga A
    Am J Med Genet A; 2014 May; 164A(5):1175-9. PubMed ID: 24648384
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
    McCann LJ; McPartland J; Barge D; Strain L; Bourn D; Calonje E; Verbov J; Riordan A; Kokai G; Bacon CM; Wright M; Abinun M
    J Clin Immunol; 2014 Jan; 34(1):42-8. PubMed ID: 24217815
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
    Yasui Y; Kohno M; Nishida S; Shironomae T; Satomi M; Kuwahara T; Takahashi S; Niida Y
    Congenit Anom (Kyoto); 2017 Jan; 57(1):32-34. PubMed ID: 27270827
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.
    Tan R; ; Rozmus J; Turvey SE; Biggs CM
    J Clin Immunol; 2023 Aug; 43(6):1139-1142. PubMed ID: 37115363
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.