McIntosh I - Search Results

1

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: mcintosh i. Hum Genet. 1998 Oct;103(4):525-6. doi: 10.1007/s004390050862. Hum Genet. 1998. PMID: 9856502 Free article. No abstract available.

2

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. Am J Hum Genet. 1997 Jan;60(1):133-42. Am J Hum Genet. 1997. PMID: 8981956 Free PMC article.

3

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. Vollrath D, et al. Among authors: mcintosh i. Hum Mol Genet. 1998 Jul;7(7):1091-8. doi: 10.1093/hmg/7.7.1091. Hum Mol Genet. 1998. PMID: 9618165

4

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. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC article.

5

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

Clough MV, Hamlington JD, McIntosh I. Clough MV, et al. Among authors: mcintosh i. Hum Mutat. 1999;14(6):459-65. doi: 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 1999. PMID: 10571942

6

Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.

Hamlington JD, Clough MV, Dunston JA, McIntosh I. Hamlington JD, et al. Among authors: mcintosh i. Eur J Hum Genet. 2000 Apr;8(4):311-4. doi: 10.1038/sj.ejhg.5200448. Eur J Hum Genet. 2000. PMID: 10854116

7

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Nijbroek G, et al. Among authors: mcintosh i. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

8

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Among authors: mcintosh i. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.

9

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: mcintosh i. 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.

10

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. Hum Mol Genet. 1994 Feb;3(2):303-7. doi: 10.1093/hmg/3.2.303. Hum Mol Genet. 1994. PMID: 8004099

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