S A Lynch

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. ncbi Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
    S A Lynch
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle NE1 3BZ, UK
    Arch Dis Child Fetal Neonatal Ed 88:F250-2. 2003
  2. ncbi Autosomal dominant sacral agenesis: Currarino syndrome
    S A Lynch
    Department of Human Genetics, Newcastle upon Tyne NE2 4AA, UK
    J Med Genet 37:561-6. 2000
  3. ncbi Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome?
    S A Lynch
    Department of Pathology, Royal Victoria Infirmary, Newcastle, UK
    Clin Dysmorphol 7:285-8. 1998
  4. ncbi A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
    S A Lynch
    Department of Human Genetics, University of Newcastle upon Tyne, UK
    Nat Genet 11:93-5. 1995
  5. ncbi Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
    A K Lampe
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Arch Dis Child 87:444-5. 2002
  6. ncbi NBCCS secondary to an interstitial chromosome 9q deletion
    M A Haniffa
    Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
    Clin Exp Dermatol 29:542-4. 2004
  7. ncbi Recurrence risk for psoriasis and psoriatic arthritis within sibships
    A Myers
    Department of Rheumatology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Rheumatology (Oxford) 44:773-6. 2005
  8. ncbi Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome?
    S A Lynch
    Department of Human Genetics, Newcastle upon Tyne, UK
    Clin Dysmorphol 6:35-7. 1997
  9. ncbi Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population
    C L Relton
    Paediatric and Lifecourse Epidemiology Research Group, School of Clinical Medical Sciences, Newcastle University, Sir James Spence Institute, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK
    J Med Genet 41:256-60. 2004
  10. ncbi Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype
    C L Relton
    Genetics Department, Westlakes Research Institute, Westlakes Science and Technology Park, Cumbria, UK West Cumberland Hospital, Whitehaven, Cumbria, UK
    Clin Genet 64:424-8. 2003

Collaborators

Detail Information

Publications16

  1. ncbi Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
    S A Lynch
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle NE1 3BZ, UK
    Arch Dis Child Fetal Neonatal Ed 88:F250-2. 2003
    ..Neonatal encephalopathy in males is part of a spectrum of disorders caused by MECP2 dysfunction...
  2. ncbi Autosomal dominant sacral agenesis: Currarino syndrome
    S A Lynch
    Department of Human Genetics, Newcastle upon Tyne NE2 4AA, UK
    J Med Genet 37:561-6. 2000
    ..We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information...
  3. ncbi Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome?
    S A Lynch
    Department of Pathology, Royal Victoria Infirmary, Newcastle, UK
    Clin Dysmorphol 7:285-8. 1998
    ..We suggest that fetal blood sampling should be considered in similar cases with renal agenesis. Some may have a milder form of pancytopenia and may not present with hydrops thereby not prompting further haematological investigation...
  4. ncbi A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
    S A Lynch
    Department of Human Genetics, University of Newcastle upon Tyne, UK
    Nat Genet 11:93-5. 1995
    ..The same region also contains a gene for holoprosencephaly, an early malformation of the extreme rostral end of the neural tube...
  5. ncbi Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
    A K Lampe
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Arch Dis Child 87:444-5. 2002
    ..His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion cases...
  6. ncbi NBCCS secondary to an interstitial chromosome 9q deletion
    M A Haniffa
    Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
    Clin Exp Dermatol 29:542-4. 2004
    ..The NBCCS phenotype in our patient occurred as a result of PTCH1 deletion in contrast with an inherited mutation of this gene...
  7. ncbi Recurrence risk for psoriasis and psoriatic arthritis within sibships
    A Myers
    Department of Rheumatology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Rheumatology (Oxford) 44:773-6. 2005
    ..To quantify the frequency of siblings of patients with psoriatic arthritis (PsA) having psoriasis and/or inflammatory arthritis. To describe the similarity or otherwise of patterns of arthritis in siblings...
  8. ncbi Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome?
    S A Lynch
    Department of Human Genetics, Newcastle upon Tyne, UK
    Clin Dysmorphol 6:35-7. 1997
    ..Review of the literature did not reveal another report of this unusual combination of features...
  9. ncbi Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population
    C L Relton
    Paediatric and Lifecourse Epidemiology Research Group, School of Clinical Medical Sciences, Newcastle University, Sir James Spence Institute, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK
    J Med Genet 41:256-60. 2004
    ..To investigate the contribution of polymorphic variation in genes involved in the folate-dependent homocysteine pathway in the aetiology of neural tube defects (NTD)...
  10. ncbi Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype
    C L Relton
    Genetics Department, Westlakes Research Institute, Westlakes Science and Technology Park, Cumbria, UK West Cumberland Hospital, Whitehaven, Cumbria, UK
    Clin Genet 64:424-8. 2003
    ....
  11. ncbi ARC syndrome: an expanding range of phenotypes
    K M Eastham
    Department of Paediatrics, James Cook University Hospital, Marton Road, Middlesbrough, Cleveland TS4 3BW, UK
    Arch Dis Child 85:415-20. 2001
    ..The association of Fanconi syndrome, ichthyosis, dysmorphism, jaundice, and diarrhoea has previously been reported as a separate syndrome: our observations indicate that it is part of the ARC spectrum...
  12. ncbi Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
    D M Hagan
    Human Genetics Unit, School of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 7RU, United Kingdom
    Am J Hum Genet 66:1504-15. 2000
    ..Significant spatial and temporal expression differences were evident when compared with expression of the mouse Hlxb9 gene, which may partly explain the significant human-mouse differences in mutant phenotype...
  13. ncbi A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
    A J Ross
    Human Genetics Unit, School of Biochemistry and Genetics, University of Newcastle upon Tyne, UK
    Nat Genet 20:358-61. 1998
    ..We excluded several candidate genes before identifying patient-specific mutations in a homeobox gene, HLXB9, which was previously reported to map to 1q41-q42.1 and to be expressed in lymphoid and pancreatic tissues...
  14. ncbi Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively
    J L Walker
    Department of Biochemistry, University of Oxford, U.K
    Hum Mutat 9:53-6. 1997
  15. ncbi Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida
    K Morrison
    MRC Human Biochemical Genetics Unit, University College London, UK
    Hum Mol Genet 5:669-74. 1996
    ..Using this test we find evidence for a significant (p = 0.02) association between transmission of the TIVS7-2 allele of the human T gene and spina bifida...
  16. ncbi Cascade screening in BRCA1/2 mutation carriers
    N Cody
    National Centre for Medical Genetics, Our Lady s Children s Hospital, Crumlin, Dublin
    Ir Med J 101:140-2. 2008
    ..Specific factors which appeared to influence attendance included poor dissemination of information among families about the test; and lower levels of communication among siblings than within the nuclear family...