N. Lench

发表

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

D. Kelsell, I. Leigh, J. Dunlop, 1997, nature.

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

S. Bell, P. Hamlin, J. Leek, 1997, Cytogenetics and cell genetics.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Emma Roberts, Philip Sloan, Michael J. Dixon, 1999, Nature Genetics.

Prostate-specific membrane antigen: evidence for the existence of a second related human gene.

K. Maclennan, I. Carr, B. Maraj, 1995, British Journal of Cancer.

SIMPLE NON-INVASIVE METHOD TO OBTAIN DNA FOR GENE ANALYSIS

R. Williamson, P. Stanier, N. Lench, 1988, The Lancet.

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

A. Markham, P. Robinson, N. Lench, 1995, Human Genetics.

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

E. Telford, A. Markham, N. Lench, 1999, Biochimica et biophysica acta.

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

E. Telford, A. Markham, J. Leek, 1998, Biochemical and biophysical research communications.

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

A. Markham, P. Robinson, I. Carr, 1996, Archives of oral biology.

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

A. Markham, N. Lench, S. E. Andersen, 1996, Mammalian Genome.

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

E. Telford, A. Markham, B. Wainwright, 1997, Human Genetics.

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

D. Kelsell, A. Markham, P. Van de Heyning, 1998, Journal of medical genetics.

Assignment1 of GALGT encoding β-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

P. Howdle, A. Markham, K. Bransfield, 1998, Cytogenetic and Genome Research.

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

S. Bell, I. Carr, J. Leek, 1997, Cytogenetics and cell genetics.

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

A. Markham, B. Maraj, J. Leek, 1998, Cytogenetic and Genome Research.

PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation.

X. Estivill, M. Chillón, V. Nunes, 1990, Nucleic acids research.

Characterisation of molecular defects in X‐linked amelogenesis imperfecta (AIH1)

N. Lench, N. Lench, G. Winter, 1995, Human mutation.

LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONS

M. Farrall, P. Scambler, R. Williamson, 1985, The Lancet.

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

X. Estivill, M. Farrall, P. Scambler, 1987, Nature.

Comparative genetic mapping for the identification of novel diagnostic and therapeutic targets.

P. Coletta, A. Markham, N. Lench, 1994, Current opinion in biotechnology.

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

X. Estivill, R. Williamson, P. Stanier, 1988, Human Genetics.

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

G. Taylor, M. Parker, A. Middleton, 1999, International journal of pediatric otorhinolaryngology.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

C. Steward, H. Kearney, G. Cavalleri, 2020, European Journal of Human Genetics.

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

C. Petit, M. Mustapha, D. Weil, 1997, Human molecular genetics.

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

J. Thompson, P. Coletta, A. Markham, 1995, Mammalian Genome.

Genetics--getting personal.

N. Lench, 2008, Drug discovery today.

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

A. Markham, P. Robinson, A. High, 1996, European journal of cancer. Part B, Oral oncology.

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

A. Markham, N. Lench, R. Mueller, 1998, American journal of human genetics.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

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

C. Woods, G. Turner, G. Karbani, 2000, American journal of human genetics.

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

A. Markham, G. Karbani, L. Al-Gazali, 1997, Journal of medical genetics.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, J. Harrow, A. Frankish, 2019, npj Genomic Medicine.

Progress towards construction of a total restriction fragment map of a human chromosome.

F. Grosveld, E. Solomon, N. Lench, 1987, Nucleic acids research.

Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.

Y. Nakamura, M. Leppert, P. O'Connell, 1988, American journal of human genetics.

Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11.

X. Estivill, M. Farrall, G. Bell, 1986, American journal of human genetics.

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

A. Markham, D. Campbell, N. Lench, 1998, American journal of human genetics.

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

C. Woods, G. Karbani, N. Lench, 2000, Journal of medical genetics.

Cystic fibrosis linkage exclusion data.

M. Farrall, R. Williamson, G. Bell, 1986, Cytogenetics and cell genetics.

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

E. Telford, A. Markham, P. Robinson, 1996, Genomics.

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

A. Markham, N. Lench, Robert K. Macadam, 1997, Human Genetics.

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

A. Markham, A. Davis, M. Parker, 2000, Journal of medical genetics.

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

A. Markham, N. Lench, R. Mueller, 2001, European Journal of Human Genetics.

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

C. Woods, A. Markham, A. Jackson, 1999, European Journal of Human Genetics.

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

A. Markham, L. Al-Gazali, N. Lench, 1997, Journal of medical genetics.

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

A. Markham, A. Booth, N. Lench, 1996, Nucleic acids research.

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

P. Scambler, S. Halford, R. Williamson, 1991, Genomics.

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

C. Woods, A. Markham, D. Campbell, 1999, American journal of human genetics.

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

C. Woods, M. Levene, A. Markham, 1998, American journal of human genetics.

Evidence for a common mutation in hereditary pancreatitis.

A. Markham, S. Bell, C. Bennett, 1998, Molecular pathology : MP.

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

C. Woods, A. Markham, A. Jackson, 2000, European Journal of Human Genetics.

Extent and distribution of linkage disequilibrium in three genomic regions.

L R Cardon, G. Abecasis, L. Cardon, 2001, American journal of human genetics.

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

J. Leek, N. Lench, R. Mueller, 1996, Annals of human genetics.

An anonymous DNA probe (NL32) recognises a MspI polymorphism on human chromosome 1 [D1S84].

N. Lench, P. Scambler, 1988, Nucleic Acids Research.

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

L. Al-Gazali, N. Lench, N. Lench, 2000, European Journal of Human Genetics.