192 related articles for article (PubMed ID: 21063072)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
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. 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. 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]
14. 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]
15. 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]
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. 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]
18. 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]
19. 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]
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]
