McKusick VA - Search Results

1

Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

Kelly TE, Thomas GH, Taylor HA Jr, McKusick VA, Sly WS, Glaser JH, Robinow M, Luzzatti L, Espiritu C, Feingold M, Bull MJ, Ashenhurst EM, Ives EJ. Kelly TE, et al. Among authors: mckusick va. Johns Hopkins Med J. 1975 Oct;137(4):156-75. Johns Hopkins Med J. 1975. PMID: 810612

2

Mucolipidosis III: clinical and laboratory findings.

Kelly TE, Thomas GH, Taylor HA, McKusick VA. Kelly TE, et al. Among authors: mckusick va. Birth Defects Orig Artic Ser. 1975;11(6):295-9. Birth Defects Orig Artic Ser. 1975. PMID: 811281 No abstract available.

3

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

McKusick VA, Kelly TE, Dorst JP. McKusick VA, et al. J Med Genet. 1973 Mar;10(1):11-6. doi: 10.1136/jmg.10.1.11. J Med Genet. 1973. PMID: 4697848 Free PMC article.

4

Tay-Sachs disease: high gene frequency in a non-Jewish population.

Kelly TE, Chase GA, Kaback MM, Kumor K, McKusick VA. Kelly TE, et al. Among authors: mckusick va. Am J Hum Genet. 1975 May;27(3):287-91. Am J Hum Genet. 1975. PMID: 803011 Free PMC article.

5

Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form.

Lichtenstein JR, Bilbrey GL, McKusick VA. Lichtenstein JR, et al. Among authors: mckusick va. Johns Hopkins Med J. 1972 Dec;131(6):425-35. Johns Hopkins Med J. 1972. PMID: 4629084 No abstract available.

6

Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL. Robinow M, et al. Among authors: mckusick va. Am J Dis Child. 1971 Mar;121(3):195-203. Am J Dis Child. 1971. PMID: 5551869 No abstract available.

7

Molecular order in mucolipidosis II and III nomenclature.

Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA. Cathey SS, et al. Among authors: mckusick va. Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. Am J Med Genet A. 2008. PMID: 18203164 No abstract available.

8

Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy).

Melhem R, Dorst JP, Scott CI Jr, McKusick VA. Melhem R, et al. Among authors: mckusick va. Radiology. 1973 Jan;106(1):153-60. doi: 10.1148/106.1.153. Radiology. 1973. PMID: 4264747 No abstract available.

9

A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment.

Halpern BL, Char F, Murdoch JL, Horton WB, McKusick VA. Halpern BL, et al. Among authors: mckusick va. Johns Hopkins Med J. 1971 Sep;129(3):123-9. Johns Hopkins Med J. 1971. PMID: 5113220 No abstract available.

10

The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.

Stevenson RE, Howell RR, McKusick VA, Suskind R, Hanson JW, Elliott DE, Neufeld EF. Stevenson RE, et al. Among authors: mckusick va. Pediatrics. 1976 Jan;57(1):111-22. Pediatrics. 1976. PMID: 813180

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