McCallum J - Search Results

1

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Among authors: mccallum j. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.

2

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. Gillis LA, et al. Among authors: mccallum j. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. Am J Hum Genet. 2004. PMID: 15318302 Free PMC article.

3

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Among authors: mccallum j. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.

4

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG, Krantz ID, Young TL. Nallasamy S, et al. Among authors: mccallum j. Arch Ophthalmol. 2006 Apr;124(4):552-7. doi: 10.1001/archopht.124.4.552. Arch Ophthalmol. 2006. PMID: 16606884

5

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, Stolle C, Krantz ID. Yaeger D, et al. Among authors: mccallum j. Am J Med Genet A. 2006 Apr 15;140(8):827-36. doi: 10.1002/ajmg.a.31179. Am J Med Genet A. 2006. PMID: 16532460

6

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID. Kenna MA, et al. Among authors: mccallum j. Am J Med Genet A. 2007 Jul 15;143A(14):1560-6. doi: 10.1002/ajmg.a.31706. Am J Med Genet A. 2007. PMID: 17455295

7

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, Lynch DR. Stolle CA, et al. Among authors: mccallum j. Mov Disord. 2008 Jul 15;23(9):1303-6. doi: 10.1002/mds.22012. Mov Disord. 2008. PMID: 18464277

8

The role of palmitoylation of the guanine nucleotide binding protein G11 alpha in defining interaction with the plasma membrane.

McCallum JF, Wise A, Grassie MA, Magee AI, Guzzi F, Parenti M, Milligan G. McCallum JF, et al. Biochem J. 1995 Sep 15;310 ( Pt 3)(Pt 3):1021-7. doi: 10.1042/bj3101021. Biochem J. 1995. PMID: 7575398 Free PMC article.

9

Mechanisms of agonist-induced G-protein elimination.

Milligan G, Wise A, MacEwan DJ, Grassie MA, Kennedy FR, Lee TW, Adie EJ, Kim GD, McCallum JF, Burt A, et al. Milligan G, et al. Among authors: mccallum jf. Biochem Soc Trans. 1995 Feb;23(1):166-70. doi: 10.1042/bst0230166. Biochem Soc Trans. 1995. PMID: 7758721 Review. No abstract available.

10

Palmitoylation negative mutants of murine G11 alpha have decreased ability to interact with the plasma membrane when expressed in COS-1 cells.

McCallum JF, Wise A, Parenti M, Milligan G. McCallum JF, et al. Biochem Soc Trans. 1995 Feb;23(1):9S. doi: 10.1042/bst023009s. Biochem Soc Trans. 1995. PMID: 7758810 No abstract available.

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