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Items: 1 to 50 of 63

1.

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D.

Pediatr Nephrol. 2011 Aug;26(8):1331-4. doi: 10.1007/s00467-011-1884-z. Epub 2011 May 20.

PMID:
21597970
2.

Genetics--getting personal.

Lench NJ.

Drug Discov Today. 2008 Mar;13(5-6):189-91. doi: 10.1016/j.drudis.2008.01.001. Epub 2008 Mar 4. No abstract available.

PMID:
18342793
3.

Population genomics and dental public health.

Chestnutt IG, Lench NJ.

Community Dent Health. 2006 Sep;23(3):130-2. No abstract available.

PMID:
16995559
4.

Inflammatory bowel disease is linked to 19p13 and associated with ICAM-1.

Low JH, Williams FA, Yang X, Cullen S, Colley J, Ling KL, Armuzzi A, Ahmad T, Neville MJ, Dechairo BM, Walton R, Lench NJ, Jewell DP.

Inflamm Bowel Dis. 2004 May;10(3):173-81.

PMID:
15290909
5.

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

van Heel DA, Dechairo BM, Dawson G, McGovern DP, Negoro K, Carey AH, Cardon LR, Mackay I, Jewell DP, Lench NJ.

Hum Mol Genet. 2003 Oct 15;12(20):2569-75. Epub 2003 Aug 19.

PMID:
12928481
6.

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease.

Negoro K, McGovern DP, Kinouchi Y, Takahashi S, Lench NJ, Shimosegawa T, Carey A, Cardon LR, Jewell DP, van Heel DA.

Gut. 2003 Apr;52(4):541-6.

7.

Molecular analysis for genetic counselling in amelogenesis imperfecta.

Aldred MJ, Hall RK, Kilpatrick N, Bankier A, Savarirayan R, Lamandé SR, Lench NJ, Crawford PJ.

Oral Dis. 2002 Sep;8(5):249-53.

PMID:
12363109
8.

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79.

PMID:
12359132
9.

Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics.

van Heel DA, McGovern DP, Cardon LR, Dechairo BM, Lench NJ, Carey AH, Jewell DP.

Am J Med Genet. 2002 Aug 15;111(3):253-9.

PMID:
12210321
10.

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

van Heel DA, Udalova IA, De Silva AP, McGovern DP, Kinouchi Y, Hull J, Lench NJ, Cardon LR, Carey AH, Jewell DP, Kwiatkowski D.

Hum Mol Genet. 2002 May 15;11(11):1281-9.

PMID:
12019209
11.

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ.

J Med Genet. 2001 Aug;38(8):533-6. No abstract available.

12.

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Hutchin TP, Lench NJ, Arbuzova S, Markham AF, Mueller RF.

Eur J Hum Genet. 2001 Jan;9(1):56-8.

13.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

Pulleyn LJ, Jackson AP, Roberts E, Carridice A, Muxworthy C, Houseman M, Al-Gazali LI, Lench NJ, Markham AF, Mueller RF.

Eur J Hum Genet. 2000 Dec;8(12):991-3.

14.

Extent and distribution of linkage disequilibrium in three genomic regions.

Abecasis GR, Noguchi E, Heinzmann A, Traherne JA, Bhattacharyya S, Leaves NI, Anderson GG, Zhang Y, Lench NJ, Carey A, Cardon LR, Moffatt MF, Cookson WO.

Am J Hum Genet. 2001 Jan;68(1):191-197. Epub 2000 Nov 13.

15.

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Hutchin TP, Parker MJ, Young ID, Davis AC, Pulleyn LJ, Deeble J, Lench NJ, Markham AF, Mueller RF.

J Med Genet. 2000 Sep;37(9):692-4.

16.

Mapping of the DFNB1 locus.

Mueller RF, Lench NJ.

Adv Otorhinolaryngol. 2000;56:116-23. Review. No abstract available.

PMID:
10868223
17.

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

McHale DP, Jackson AP, Campbell, Levene MI, Corry P, Woods CG, Lench NJ, Mueller RF, Markham AF.

Eur J Hum Genet. 2000 Apr;8(4):267-72.

18.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG.

Am J Hum Genet. 2000 Feb;66(2):724-7.

19.

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.

Mueller RF, Nehammer A, Middleton A, Houseman M, Taylor GR, Bitner-Glindzciz M, Van Camp G, Parker M, Young ID, Davis A, Newton VE, Lench NJ.

Int J Pediatr Otorhinolaryngol. 1999 Oct 15;50(1):3-13.

PMID:
10596881
20.

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG.

Eur J Hum Genet. 1999 Oct-Nov;7(7):815-20.

21.

Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family.

Telford EA, Moynihan LM, Markham AF, Lench NJ.

Biochim Biophys Acta. 1999 Sep 3;1446(3):371-6.

PMID:
10524212
22.

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.

McHale DP, Mitchell S, Bundey S, Moynihan L, Campbell DA, Woods CG, Lench NJ, Mueller RF, Markham AF.

Am J Hum Genet. 1999 Feb;64(2):526-32.

23.

Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk.

Hamlin PJ, Jones PF, Leek JP, Bransfield K, Lench NJ, Aldersley MA, Howdle PD, Markham AF, Robinson PA.

Cytogenet Cell Genet. 1998;82(3-4):267-8. No abstract available.

PMID:
9858832
24.

Evidence for a common mutation in hereditary pancreatitis.

Bell SM, Bennett C, Markham AF, Lench NJ.

Mol Pathol. 1998 Apr;51(2):115-7.

25.

Detailed genetic mapping around a putative prostate-specific membrane antigen locus on human chromosome 11p11.2.

Maraj BH, Leek JP, Karayi M, Ali M, Lench NJ, Markham AF.

Cytogenet Cell Genet. 1998;81(1):3-9.

PMID:
9691167
26.

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG.

Am J Hum Genet. 1998 Aug;63(2):541-6.

27.

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC.

Hum Mutat. 1998;11(5):387-94.

PMID:
9600457
28.

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

Moynihan LM, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham AF, Lench NJ.

Am J Hum Genet. 1998 May;62(5):1123-8.

29.

A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Mitchell SJ, McHale DP, Campbell DA, Lench NJ, Mueller RF, Bundey SE, Markham AF.

Am J Hum Genet. 1998 May;62(5):1070-6.

30.

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G.

J Med Genet. 1998 Feb;35(2):151-2.

31.

cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C.

Telford EA, Wightman P, Leek J, Markham AF, Lench NJ, Bonthron DT.

Biochem Biophys Res Commun. 1998 Jan 14;242(2):407-12.

PMID:
9446808
32.

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF.

J Med Genet. 1997 Dec;34(12):1015-7.

33.

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.

Lench NJ, Telford EA, High AS, Markham AF, Wicking C, Wainwright BJ.

Hum Genet. 1997 Oct;100(5-6):497-502.

PMID:
9341860
34.

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al.

Hum Mol Genet. 1997 Nov;6(12):2173-7.

PMID:
9336442
35.

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Brown KA, al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF.

J Med Genet. 1997 Aug;34(8):685-7.

36.

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM.

Nature. 1997 May 1;387(6628):80-3.

PMID:
9139825
37.

The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2.

Lench NJ, Macadam R, Markham AF.

Hum Genet. 1997 Apr;99(4):547-9.

PMID:
9099849
38.

DNA diagnosis of X-linked amelogenesis imperfecta (AIH1).

Lench NJ, Brook AH.

J Oral Pathol Med. 1997 Mar;26(3):135-7.

PMID:
9083938
39.

Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization.

Leek JP, Carr IM, Bell SM, Markham AF, Lench NJ.

Cytogenet Cell Genet. 1997;79(3-4):212-3. No abstract available.

PMID:
9605855
40.

Assignment of the Rab13 gene (RAB13) to human chromosome band 12q13 by in situ hybridization.

Leek JP, Hamlin PJ, Wilton J, Lench NJ.

Cytogenet Cell Genet. 1997;79(3-4):210-1. No abstract available.

PMID:
9605854
41.

Assignment of the STAT6 gene (STAT6) to human chromosome band 12q13 by in situ hybridization.

Leek JP, Hamlin PJ, Bell SM, Lench NJ.

Cytogenet Cell Genet. 1997;79(3-4):208-9. No abstract available.

PMID:
9605853
42.

Assignment of Indian hedgehog (IHH) to human chromosome bands 2q33-->q35 by in situ hybridization.

Leek JP, Moynihan TP, Anwar R, Bonthron DT, Markham AF, Lench NJ.

Cytogenet Cell Genet. 1997;76(3-4):187-8. No abstract available.

PMID:
9186520
43.

An EST and STS-based YAC contig map of human chromosome 9q22.3.

Lench NJ, Telford EA, Andersen SE, Moynihan TP, Robinson PA, Markham AF.

Genomics. 1996 Dec 1;38(2):199-205.

PMID:
8954802
44.

YAC clones that extend the human chromosome 12cen-12q15 region contig map.

Andersen SE, Lench NJ, Markham AF.

Mamm Genome. 1996 Oct;7(10):780-3. No abstract available.

PMID:
8854870
45.

Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci.

Brown KA, Leek JP, Lench NJ, Moynihan LM, Markham AF, Mueller RF.

Ann Hum Genet. 1996 Sep;60(5):385-9.

PMID:
8912791
46.

Vectorette PCR isolation of microsatellite repeat sequences using anchored dinucleotide repeat primers.

Lench NJ, Norris A, Bailey A, Booth A, Markham AF.

Nucleic Acids Res. 1996 Jun 1;24(11):2190-1.

47.

Yeast artificial chromosome cloning and chromosomal localization of the abundant odontogenic keratocyst protein elafin.

Robinson PA, Leek JP, Carr IM, Bailey A, Lench NJ, Morrison J, Hume WJ, High AS, Markham AF.

Arch Oral Biol. 1996 May;41(5):445-52.

PMID:
8809307
48.

Investigation of chromosome 9q22.3-q31 DNA marker loss in odontogenic keratocysts.

Lench NJ, High AS, Markham AF, Hume WJ, Robinson PA.

Eur J Cancer B Oral Oncol. 1996 May;32B(3):202-6.

PMID:
8762878
49.

A human ubiquitin conjugating enzyme, L-UBC, maps in the Alzheimer's disease locus on chromosome 14q24.3.

Robinson PA, Leek JP, Thompson J, Carr IM, Bailey A, Moynihan TP, Coletta PL, Lench NJ, Markham AF.

Mamm Genome. 1995 Oct;6(10):725-31.

PMID:
8563171
50.

(CGG) trinucleotide repeat polymorphism in the 5' region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6.

Lench NJ, Thompson J, Markham AF, Robinson PA.

Hum Genet. 1995 Sep;96(3):369-70. No abstract available.

PMID:
7649561

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