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FC Mansergh

Research Profile

Concepts & Ideas

Geographic Areas

Ireland

Genes & Molecular Sequences

Dominant Genes

Physiology

Disorders

Phenomena

Polymorphism, Single-Stranded Conformational

Chemicals & Drugs

Procedures

Chromosome Mapping

Anatomy

Co-author Network

Publications

TOP 3
FC Mansergh; Sophia Millington-Ward; Avril Kennan; Anna-Sophia Kiang; Marian Humphries; G Jane Farrar; Peter Humphries; Paul F Kenna
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.
Avril Kennan; FC Mansergh; J H Fingert; T Clark; Carmen Ayuso; Paul F Kenna; Peter Humphries; G Jane Farrar
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.
FC Mansergh; Paul F Kenna; Carmen Ayuso; Anna-Sophia Kiang; Peter Humphries; G Jane Farrar
Novel mutations in the TIGR gene in early and late onset open angle glaucoma.

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All Publications

1999: FC Mansergh; Sophia Millington-Ward; Avril Kennan; Anna-Sophia Kiang; Marian Humphries; G Jane Farrar; Peter Humphries; Paul F Kenna
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.
American journal of human genetics 1999;64(4):971-85.
1998: Avril Kennan; FC Mansergh; J H Fingert; T Clark; Carmen Ayuso; Paul F Kenna; Peter Humphries; G Jane Farrar
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.
Journal of medical genetics 1998;35(11):957-60.
1998: FC Mansergh; Paul F Kenna; Carmen Ayuso; Anna-Sophia Kiang; Peter Humphries; G Jane Farrar
Novel mutations in the TIGR gene in early and late onset open angle glaucoma.
Human mutation 1998;11(3):244-51.
1998: FC Mansergh; T Meitinger; G Rodolph; Peter Humphries; G Jane Farrar
Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy.
Journal of medical genetics 1998;35(1):85-6.
1997: Sophia Millington-Ward; Brian O'Neill; Gearóid Tuohy; N Al-Jandal; Anna-Sophia Kiang; Paul F Kenna; Arpad Palfi; P Hayden; FC Mansergh; Avril Kennan; Peter Humphries; G Jane Farrar
Strategems in vitro for gene therapies directed to dominant mutations.
Human molecular genetics 1997;6(9):1415-26.
1997: Paul F Kenna; FC Mansergh; Sophia Millington-Ward; A Erven; R Kumar-Singh; R Brennan; G Jane Farrar; Peter Humphries
Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.
The British journal of ophthalmology 1997;81(3):207-13.
1996: Marian Humphries; FC Mansergh; Anna-Sophia Kiang; S A Jordan; D M Sheils; M J Martin; G Jane Farrar; Paul F Kenna; M M Young; Peter Humphries
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
Human mutation 1996;8(1):57-63.
1995: FC Mansergh; Paul F Kenna; Günther Rudolph; Thomas Meitinger; G Jane Farrar; R Kumar-Singh; J Scorer; A M Hally; L Mynett-Johnson; Marian Humphries
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
Journal of medical genetics 1995;32(11):855-8.
1994: FC Mansergh; S A Jordan; G Jane Farrar; R Kumar-Singh; Andreas Gal; S Bhattacharya; Peter Humphries
Three sequence polymorphisms in the PDC gene.
Human molecular genetics 1994;3(11):2077.
1993: R Kumar-Singh; G Jane Farrar; FC Mansergh; Paul F Kenna; S Bhattacharya; Andreas Gal; Peter Humphries
Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).
Human molecular genetics 1993;2(7):875-8.
1993: Marian Humphries; D M Sheils; G Jane Farrar; R Kumar-Singh; Paul F Kenna; FC Mansergh; S A Jordan; M Young; Peter Humphries
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Human mutation 1993;2(1):37-42.