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. 1995 Jan;32(1):39–43. doi: 10.1136/jmg.32.1.39

Cartilage-hair hypoplasia.

O Mäkitie 1, T Sulisalo 1, A de la Chapelle 1, I Kaitila 1
PMCID: PMC1050177  PMID: 7897625

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bundey S., Young I. D. Low segregation ratios in autosomal recessive disorders. J Med Genet. 1993 Jun;30(6):449–451. doi: 10.1136/jmg.30.6.449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Edery P., Lyonnet S., Mulligan L. M., Pelet A., Dow E., Abel L., Holder S., Nihoul-Fékété C., Ponder B. A., Munnich A. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994 Jan 27;367(6461):378–380. doi: 10.1038/367378a0. [DOI] [PubMed] [Google Scholar]
  3. Fauchier C., Régy J. M., Combe P. Nanisme diastrophique familial avec maladie de Hirschsprung. Ann Pediatr (Paris) 1969 Aug-Sep;16(8):496–502. [PubMed] [Google Scholar]
  4. Harris R. E., Baehner R. L., Gleiser S., Weaver D. D., Hodes M. E. Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet. 1981;8(3):291–297. doi: 10.1002/ajmg.1320080306. [DOI] [PubMed] [Google Scholar]
  5. Hashimoto T., Murakawa K., Miyazaki M., Tayama M., Kuroda Y. Magnetic resonance imaging of the brain structures in the posterior fossa in retarded autistic children. Acta Paediatr. 1992 Dec;81(12):1030–1034. doi: 10.1111/j.1651-2227.1992.tb12169.x. [DOI] [PubMed] [Google Scholar]
  6. Hensley M. F. McKusick's dwarfism and resistant Hodgkin's disease. J Am Osteopath Assoc. 1984 Oct;84(2):159–159. [PubMed] [Google Scholar]
  7. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  8. Lehesjoki A. E., Koskiniemi M., Norio R., Tirrito S., Sistonen P., Lander E., de la Chapelle A. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet. 1993 Aug;2(8):1229–1234. doi: 10.1093/hmg/2.8.1229. [DOI] [PubMed] [Google Scholar]
  9. Lischka A., Frisch H., Weissenbacher G. Radiologische Veränderungen bei metaphysärer Chondrodystrophie Typ Mc Kusick (Knorpel-Haar-Hypoplasie). Monatsschr Kinderheilkd. 1984 Jul;132(7):550–553. [PubMed] [Google Scholar]
  10. Luria S. E., Delbrück M. Mutations of Bacteria from Virus Sensitivity to Virus Resistance. Genetics. 1943 Nov;28(6):491–511. doi: 10.1093/genetics/28.6.491. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Lux S. E., Johnston R. B., Jr, August C. S., Say B., Penchaszadeh V. B., Rosen F. S., McKusick V. A. Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med. 1970 Jan 29;282(5):231–236. doi: 10.1056/NEJM197001292820501. [DOI] [PubMed] [Google Scholar]
  12. MCKUSICK V. A., ELDRIDGE R., HOSTETLER J. A., RUANGWIT U., EGELAND J. A. DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. Bull Johns Hopkins Hosp. 1965 May;116:285–326. [PubMed] [Google Scholar]
  13. Mäkitie O. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992 Sep;29(9):652–655. doi: 10.1136/jmg.29.9.652. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Mäkitie O., Kaitila I. Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. Eur J Pediatr. 1993 Mar;152(3):211–217. doi: 10.1007/BF01956147. [DOI] [PubMed] [Google Scholar]
  15. Mäkitie O., Marttinen E., Kaitila I. Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. Pediatr Radiol. 1992;22(6):434–439. doi: 10.1007/BF02013505. [DOI] [PubMed] [Google Scholar]
  16. Mäkitie O., Perheentupa J., Kaitila I. Growth in cartilage-hair hypoplasia. Pediatr Res. 1992 Feb;31(2):176–180. doi: 10.1203/00006450-199202000-00018. [DOI] [PubMed] [Google Scholar]
  17. Polmar S. H., Pierce G. F. Cartilage hair hypoplasia: immunological aspects and their clinical implications. Clin Immunol Immunopathol. 1986 Jul;40(1):87–93. doi: 10.1016/0090-1229(86)90071-1. [DOI] [PubMed] [Google Scholar]
  18. Ranki A., Perheentupa J., Andersson L. C., Häyry P. In vitro T- and B-cell reactivity in cartilage hair hypoplasia. Clin Exp Immunol. 1978 May;32(2):352–360. [PMC free article] [PubMed] [Google Scholar]
  19. Roberts M. A., Arnold R. M. Hodgkin's lymphoma in a child with cartilage-hair hypoplasia: case report. Mil Med. 1984 May;149(5):280–281. [PubMed] [Google Scholar]
  20. Roberts P. A., Mann T. P., Rubin J. Hirschsprung's disease associated with a variant form of achondroplasia, in sister and brother. Proc R Soc Med. 1969 Apr;62(4):329–329. [PMC free article] [PubMed] [Google Scholar]
  21. Romeo G., Ronchetto P., Luo Y., Barone V., Seri M., Ceccherini I., Pasini B., Bocciardi R., Lerone M., Käriäinen H. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994 Jan 27;367(6461):377–378. doi: 10.1038/367377a0. [DOI] [PubMed] [Google Scholar]
  22. Rubie H., Graber D., Fischer A., Tauber M. T., Maroteaux P., Robert A., Le Deist F., Rochiccioli P., Griscelli C., Regnier C. Hypoplasie du cartilage et des cheveux avec déficit immunitaire combiné. Ann Pediatr (Paris) 1989 Jun;36(6):390–392. [PubMed] [Google Scholar]
  23. Sacrez R., Levy J. M., Godar G., Castanier J. Anémie de Blackfan-Diamond associée à des malformations multiples. Med Infant (Paris) 1965 Aug-Sep;72(7):493–499. [PubMed] [Google Scholar]
  24. Saulsbury F. T., Winkelstein J. A., Davis L. E., Hsu S. H., D'Souza B. J., Gutcher G. R., Butler I. J. Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia. J Pediatr. 1975 Jun;86(6):868–872. doi: 10.1016/s0022-3476(75)80216-2. [DOI] [PubMed] [Google Scholar]
  25. Sulisalo T., Francomano C. A., Sistonen P., Maher J. F., McKusick V. A., de la Chapelle A., Kaitila I. High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. Genomics. 1994 Apr;20(3):347–353. doi: 10.1006/geno.1994.1187. [DOI] [PubMed] [Google Scholar]
  26. Sulisalo T., Klockars J., Mäkitie O., Francomano C. A., de la Chapelle A., Kaitila I., Sistonen P. High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet. 1994 Nov;55(5):937–945. [PMC free article] [PubMed] [Google Scholar]
  27. Sulisalo T., Sistonen P., Hästbacka J., Wadelius C., Mäkitie O., de la Chapelle A., Kaitila I. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet. 1993 Apr;3(4):338–341. doi: 10.1038/ng0493-338. [DOI] [PubMed] [Google Scholar]
  28. Trojak J. E., Polmar S. H., Winkelstein J. A., Hsu S., Francomano C., Pierce G. F., Scillian J. J., Gale A. N., McKusick V. A. Immunologic studies of cartilage-hair hypoplasia in the Amish. Johns Hopkins Med J. 1981 Apr;148(4):157–164. [PubMed] [Google Scholar]
  29. Virolainen M., Savilahti E., Kaitila I., Perheentupa J. Cellular and humoral immmunity in cartilage-hair hypoplasia. Pediatr Res. 1978 Oct;12(10):961–966. doi: 10.1203/00006450-197810000-00002. [DOI] [PubMed] [Google Scholar]
  30. Warman M. L., Abbott M., Apte S. S., Hefferon T., McIntosh I., Cohn D. H., Hecht J. T., Olsen B. R., Francomano C. A. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet. 1993 Sep;5(1):79–82. doi: 10.1038/ng0993-79. [DOI] [PubMed] [Google Scholar]
  31. Wilson W. G., Aylsworth A. S., Folds J. D., Whisnant J. K. Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs. Birth Defects Orig Artic Ser. 1978;14(6A):117–129. [PubMed] [Google Scholar]
  32. Wood D. J., David T. J., Chrystie I. L., Totterdell B. Chronic enteric virus infection in two T-cell immunodeficient children. J Med Virol. 1988 Apr;24(4):435–444. doi: 10.1002/jmv.1890240410. [DOI] [PubMed] [Google Scholar]
  33. le Merrer M., Briard M. L., Chauvet M. L., Maroteaux P. Chondrodysplasie métaphysaire récessive autosomique et maladie de Hirschsprung. Ann Pediatr (Paris) 1991 Jan;38(1):27–30. [PubMed] [Google Scholar]
  34. van der Burgt I., Haraldsson A., Oosterwijk J. C., van Essen A. J., Weemaes C., Hamel B. Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature. Am J Med Genet. 1991 Dec 1;41(3):371–380. doi: 10.1002/ajmg.1320410320. [DOI] [PubMed] [Google Scholar]

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