Citations for
1CHH, RMRP
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 71(9):916-919. Epub 2010 Jun 9.PMID: 20538026 2010
2CHH, RMRP
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA.
Clin Immunol 131(1):119-28. Epub 2009 Jan 16.PMID: 19150606 2009
3CCHS1, CCHS3, CHH, GOSHS, HSCR1, HSCR2, HSCR3, HSCR4, HSCR5, MOWS, PCWH, WS4B, WS4A
Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.
J Med Genet 45(1):1-14. Epub 2007 Oct 26. Review. 2008
4CHH, RMRP, SIOD, SMARCAL1
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I.
Am J Med Genet A 146A(15):2013-7. No abstract available. 2008
5CHH, RMRP
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.
Taskinen M, Ranki A, Pukkala E, Jeskanen L, Kaitila I, Mäkitie O.
Am J Med Genet A 146A(18):2370-5. 2008
6CHH, POP5, RMRP
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.
Welting TJ, Mattijssen S, Peters FM, van Doorn NL, Dekkers L, van Venrooij WJ, Heus HA, Bonafé L, Pruijn GJ.
Biochim Biophys Acta 1783(3):455-66. Epub 2007 Dec 8. 2008
7CHH, RMRP
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD.
J Allergy Clin Immunol 122(6):1178-84. Epub 2008 Sep 19.PMID: 18804272 2008
8CHH,RMRP,SMD2
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 81(3):519-29. Epub 2007 Aug 6. 2007
9RMRP, CHH
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D.
Am J Med Genet A 143(22):2675-81. 2007
10RMRP, CHH
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG.
Am J Med Genet A 140(19):2121-30. 2006
11CHH
Cartilage hair hypoplasia and multiple basal cell carcinomas.
Eisner JM, Russell M.
J Am Acad Dermatol 54(2 Suppl):S8-10. 2006
12RPS19, CHH, RMRP
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results.
Williams MS, Hermanns P.
Am J Med Genet A 138(1):66-7. No abstract available. 2005
13RPS19, RMRP, CHH
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Makitie O.
Am J Med Genet A 138(1):35-40. 2005
14RMRP, CHH, SMD2
Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator.
Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A.
Am J Hum Genet 77(5):795-806. Epub 2005 Sep 29. 2005
15CDMS, CHH, RMRP, RNASEH1
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
Ridanpaa M, Ward LM, Rockas S, Sarkioja M, Makela H, Susic M, Glorieux FH, Cole WG, Makitie O.
J Med Genet 40(10):741-746. 2003
16CHH, RMRP
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
Kuijpers TW, Ridanpaa M, Peters M, De Boer I, Vossen JM, Pals ST, Kaitila I, Hennekam RC.
J Med Genet 40(10):761-766. No abstract available. 2003
17CHH, RMRP
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 123A(3):253-6. 2003
18CHH, RMRP
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
Ridanpaa M, Sistonen P, Rockas S, Rimoin DL, Makitie O, Kaitila I.
Eur J Hum Genet 10(7):439-47. 2002
19CHH, RMRP
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Makitie O, Kaitila I, de la Chapelle A.
Cell 104(2):195-203. 2001
20CHH
Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.
Vakkilainen T, et al.
Genomics 59(3):319-25. 1999
21CHH, SLC1A2
Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.
Yel L, Aggarwal S, Gupta S.
J Clin Immunol 19(6):428-34. 1999
22CHH
Uniparental disomy in cartilage-hair hypoplasia.
Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I.
Eur J Hum Genet 5(1):35-42. 1997
23CHH
Locus homogeneity for cartilage-hair hypoplasia proven ?
Krawczak M.
Hum Genet 96 : 371-376. 1995
24CHH
Genetic homogeneity of cartilage-hair hypoplasia.
Sulisalo T, et al.
Hum Genet 95 : 157-160 1995
25CHH
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
Sulisalo T, et al.
Genomics 20 : 347-353. 1994
26CHH
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
Sulisalo T, et al.
Am J Hum Genet 55 : 937-945. 1994
27CHH
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
Sulisalo T, et al.
Nat Genet 3 : 338-341. 1993