54 related articles for article (PubMed ID: 28094436)
21. 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]
22. [Syndromic Hirschsprung′s disease and its mode of inheritance].
Zhang JR; Zhang ZB
Zhongguo Dang Dai Er Ke Za Zhi; 2018 May; 20(5):428-432. PubMed ID: 29764583
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. 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]
27. 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]
28. 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]
29. 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]
30. [Cartilage-hair hypoplasia--much more than growth problem].
Taskinen M; Mäkitie O
Duodecim; 2011; 127(3):273-9. PubMed ID: 21438350
[TBL] [Abstract][Full Text] [Related]
31. The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Thiel CT; Rauch A
Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):131-42. PubMed ID: 21396580
[TBL] [Abstract][Full Text] [Related]
32.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
33.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
34.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
35.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
36.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
37.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
38.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
39.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]