Francomano CA - Search Results

1

Fine mapping of the nail-patella syndrome locus at 9q34.

McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. McIntosh I, et al. Among authors: francomano ca. Am J Hum Genet. 1997 Jan;60(1):133-42. Am J Hum Genet. 1997. PMID: 8981956 Free PMC article.

2

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.

3

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.

Francomano CA, Cutting GR, McCormick MK, Chu ML, Timpl R, Hong HK, Antonarakis SE. Francomano CA, et al. Hum Genet. 1991 Jun;87(2):162-6. doi: 10.1007/BF00204174. Hum Genet. 1991. PMID: 1676701

4

Achondroplasia is not caused by mutation in the gene for type II collagen.

Francomano CA, Pyeritz RE. Francomano CA, et al. Am J Med Genet. 1988 Apr;29(4):955-61. doi: 10.1002/ajmg.1320290433. Am J Med Genet. 1988. PMID: 2899976

5

Marfan syndrome: exclusion of genetic linkage to three major collagen genes.

Francomano CA, Streeten EA, Meyers DA, Pyeritz RE. Francomano CA, et al. Am J Med Genet. 1988 Feb;29(2):457-62. doi: 10.1002/ajmg.1320290233. Am J Med Genet. 1988. PMID: 3354620

6

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

Piersall LD, Dietz HC, Hall BD, Cadle RG, Pyeritz RE, Francomano CA, McIntosh I. Piersall LD, et al. Among authors: francomano ca. Hum Mol Genet. 1994 Jun;3(6):1013-4. doi: 10.1093/hmg/3.6.1013. Hum Mol Genet. 1994. PMID: 7951214 Clinical Trial. No abstract available.

7

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA. McIntosh I, et al. Among authors: francomano ca. Hum Mol Genet. 1994 Feb;3(2):303-7. doi: 10.1093/hmg/3.2.303. Hum Mol Genet. 1994. PMID: 8004099

8

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. McIntosh I, et al. Among authors: francomano ca. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC article.

9

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.

Eyaid WM, Clough MV, Root H, Scott KM, McCormick MK, Zhang X, Lisitsyn NA, Kearns WG, Francomano CA, Richards JE, McIntosh I. Eyaid WM, et al. Among authors: francomano ca. Hum Genet. 1998 Oct;103(4):525-6. doi: 10.1007/s004390050862. Hum Genet. 1998. PMID: 9856502 Free article. No abstract available.

10

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Dietz HC, et al. Among authors: francomano ca. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

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