BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 28094436)

  • 1. Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
    Klemetti P; Valta H; Kostjukovits S; Taskinen M; Toiviainen-Salo S; Mäkitie O
    Clin Genet; 2017 Aug; 92(2):204-207. PubMed ID: 28094436
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.
    Kwan A; Manning MA; Zollars LK; Hoyme HE
    Am J Med Genet A; 2012 Nov; 158A(11):2911-6. PubMed ID: 22987807
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.
    Holopainen E; Vakkilainen S; Mäkitie O
    Orphanet J Rare Dis; 2018 Nov; 13(1):207. PubMed ID: 30445974
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls.
    Arponen H; Evälahti M; Mäkitie O
    Front Endocrinol (Lausanne); 2021; 12():741548. PubMed ID: 34956076
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
    Vakkilainen S; Costantini A; Taskinen M; Wartiovaara-Kautto U; Mäkitie O
    J Med Genet; 2020 Jan; 57(1):18-22. PubMed ID: 31413121
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.
    Holopainen E; Vakkilainen S; Mäkitie O
    Am J Med Genet A; 2019 Feb; 179(2):190-195. PubMed ID: 30561899
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
    Iqbal M; Muhammad N; Ali SA; Kostjukovits S; Mäkitie O; Naz S
    Clin Dysmorphol; 2017 Apr; 26(2):121-123. PubMed ID: 27740950
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
    Vakkilainen S; Mäkitie R; Klemetti P; Valta H; Taskinen M; Husebye ES; Mäkitie O
    Front Immunol; 2018; 9():2468. PubMed ID: 30410491
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
    Ip W; Gaspar HB; Kleta R; Chanudet E; Bacchelli C; Pitts A; Nademi Z; Davies EG; Slatter MA; Amrolia P; Rao K; Veys P; Gennery AR; Qasim W
    J Clin Immunol; 2015 Feb; 35(2):147-57. PubMed ID: 25663137
    [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. 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. Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.
    Castilla-Cortázar I; Rodríguez De Ita J; Martín-Estal I; Castorena F; Aguirre GA; García de la Garza R; Elizondo MI
    Am J Med Genet A; 2017 Feb; 173(2):537-540. PubMed ID: 27862957
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.