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