Parfrey NA - Search Results

1

A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.

Skehan EB, Abdulrahim MM, Parfrey NA, Hand CK. Skehan EB, et al. Among authors: parfrey na. Neurogenetics. 2012 May;13(2):125-32. doi: 10.1007/s10048-012-0317-x. Epub 2012 Mar 14. Neurogenetics. 2012. PMID: 22411506

2

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Fernandez DM, Hand CK, Sweeney BJ, Parfrey NA. Fernandez DM, et al. Among authors: parfrey na. Headache. 2008 Jan;48(1):101-8. doi: 10.1111/j.1526-4610.2007.00848.x. Headache. 2008. PMID: 18184292

3

Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.

Hand CK, McGuire M, Parfrey NA, Murphy CC. Hand CK, et al. Among authors: parfrey na. Ophthalmic Genet. 2017 Mar-Apr;38(2):148-151. doi: 10.3109/13816810.2016.1151901. Epub 2016 Apr 8. Ophthalmic Genet. 2017. PMID: 27057589

4

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.

Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Callaghan M, et al. Among authors: parfrey na. Br J Ophthalmol. 1999 Jan;83(1):115-9. doi: 10.1136/bjo.83.1.115. Br J Ophthalmol. 1999. PMID: 10209448 Free PMC article.

5

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.

Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Hand CK, et al. Among authors: parfrey na. Genomics. 1999 Oct 1;61(1):1-4. doi: 10.1006/geno.1999.5920. Genomics. 1999. PMID: 10512674

6

Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis.

Merwick Á, Mok T, McNamara B, Parfrey NA, Moore H, Sweeney BJ, Hand CK, Ryan AM. Merwick Á, et al. Among authors: parfrey na. Mov Disord Clin Pract. 2014 Dec 6;2(1):86-89. doi: 10.1002/mdc3.12117. eCollection 2015 Mar. Mov Disord Clin Pract. 2014. PMID: 30713887 Free PMC article. No abstract available.

7

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

Hughes CA, Byrne PC, Webb S, McMonagle P, Patterson V, Hutchinson M, Parfrey NA. Hughes CA, et al. Among authors: parfrey na. Neurology. 2001 May 8;56(9):1230-3. doi: 10.1212/wnl.56.9.1230. Neurology. 2001. PMID: 11342696

8

Association of NOD2 with Crohn's disease in a homogenous Irish population.

Bairead E, Harmon DL, Curtis AM, Kelly Y, O'Leary C, Gardner M, Leahy DT, Vaughan P, Keegan D, O'Morain C, O'Donoghue D, Shanahan F, Parfrey NA, Quane KA. Bairead E, et al. Among authors: parfrey na. Eur J Hum Genet. 2003 Mar;11(3):237-44. doi: 10.1038/sj.ejhg.5200954. Eur J Hum Genet. 2003. PMID: 12673278

9

Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.

Byrne PC, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey NA. Byrne PC, et al. Among authors: parfrey na. Eur J Hum Genet. 1998 May-Jun;6(3):275-82. doi: 10.1038/sj.ejhg.5200185. Eur J Hum Genet. 1998. PMID: 9781032

10

Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p.

Byrne PC, Mc Monagle P, Webb S, Fitzgerald B, Parfrey NA, Hutchinson M. Byrne PC, et al. Among authors: parfrey na. Neurology. 2000 Apr 11;54(7):1510-7. doi: 10.1212/wnl.54.7.1510. Neurology. 2000. PMID: 10751268

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