163 related articles for article (PubMed ID: 33213509)
1. Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study.
Holopainen E; Vakkilainen S; Mäkitie O
Orphanet J Rare Dis; 2020 Nov; 15(1):326. PubMed ID: 33213509
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.
Vakkilainen S; Taskinen M; Klemetti P; Pukkala E; Mäkitie O
Front Immunol; 2019; 10():1581. PubMed ID: 31379817
[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. Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.
Kukkola HL; Utriainen P; Huttunen P; Taskinen M; Mäkitie O; Vakkilainen S
Front Immunol; 2022; 13():1004694. PubMed ID: 36211439
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.
Obara-Moszynska M; Wielanowska W; Rojek A; Wolnik-Brzozowska D; Niedziela M
Pediatr Int; 2013 Dec; 55(6):e162-4. PubMed ID: 24330304
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.
Vakkilainen S; Kleino I; Honkanen J; Salo H; Kainulainen L; Gräsbeck M; Kekäläinen E; Mäkitie O; Klemetti P
Front Immunol; 2020; 11():2020. PubMed ID: 32849667
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis.
Kogami T; Uojima H; Ebato T; Bando Y; Hoshino A; Saegusa M; Ohbu M; Iwasaki S; Wada N; Kubota K; Tanaka Y; Hidaka H; Nakazawa T; Shibuya A; Koizumi W
Intern Med; 2021 Nov; 60(21):3427-3433. PubMed ID: 33967143
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.
Holopainen E; Vakkilainen S; Mäkitie O
J Pediatr Adolesc Gynecol; 2018 Aug; 31(4):422-425. PubMed ID: 29462708
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.
Arponen H; Vakkilainen S; Tomnikov N; Kallonen T; Silling S; Mäkitie O; Rautava J
Orphanet J Rare Dis; 2024 Apr; 19(1):169. PubMed ID: 38637854
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]