Francomano CA - Search Results

1

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Among authors: francomano ca. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.

2

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC. Ho NC, et al. Among authors: francomano ca. BMC Neurol. 2003 Jul 2;3:3. doi: 10.1186/1471-2377-3-3. Epub 2003 Jul 2. BMC Neurol. 2003. PMID: 12839625 Free PMC article.

3

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

Ho NC, Francomano CA, van Allen M. Ho NC, et al. Among authors: francomano ca. Am J Med Genet. 2000 Feb 14;90(4):310-4. doi: 10.1002/(sici)1096-8628(20000214)90:4<310::aid-ajmg9>3.0.co;2-n. Am J Med Genet. 2000. PMID: 10710229

4

Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).

Killen PD, Francomano CA, Yamada Y, Modi WS, O'Brien SJ. Killen PD, et al. Among authors: francomano ca. Hum Genet. 1987 Dec;77(4):318-24. doi: 10.1007/BF00291418. Hum Genet. 1987. PMID: 3692475

5

Comprehensive resource: Skeletal gene database.

Jia L, Ho NC, Park SS, Powell J, Francomano CA. Jia L, et al. Among authors: francomano ca. Am J Med Genet. 2001 Winter;106(4):275-81. doi: 10.1002/ajmg.10227. Am J Med Genet. 2001. PMID: 11891679

6

Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis.

Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG, Francomano CA. Jia L, et al. Among authors: francomano ca. Genomics. 2002 Jan;79(1):7-17. doi: 10.1006/geno.2001.6683. Genomics. 2002. PMID: 11827452

7

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Finkelstein JE, Doege K, Yamada Y, Pyeritz RE, Graham JM Jr, Moeschler JB, Pauli RM, Hecht JT, Francomano CA. Finkelstein JE, et al. Among authors: francomano ca. Am J Hum Genet. 1991 Jan;48(1):97-102. Am J Hum Genet. 1991. PMID: 1670752 Free PMC article.

8

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.

Ho N, Punturieri A, Wilkin D, Szabo J, Johnson M, Whaley J, Davis J, Clark A, Weiss S, Francomano C. Ho N, et al. J Bone Miner Res. 1999 Oct;14(10):1649-53. doi: 10.1359/jbmr.1999.14.10.1649. J Bone Miner Res. 1999. PMID: 10491211 Free article.

9

Case 47: dural ectasia associated with Marfan syndrome.

Ho NC, Hadley DW, Jain PK, Francomano CA. Ho NC, et al. Among authors: francomano ca. Radiology. 2002 Jun;223(3):767-71. doi: 10.1148/radiol.2233000971. Radiology. 2002. PMID: 12034948 No abstract available.

10

A skeletal gene database.

Ho NC, Jia L, Driscoll CC, Gutter EM, Francomano CA. Ho NC, et al. Among authors: francomano ca. J Bone Miner Res. 2000 Nov;15(11):2095-122. doi: 10.1359/jbmr.2000.15.11.2095. J Bone Miner Res. 2000. PMID: 11092392 Free article.

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