S A Lynch
Affiliation: University of Newcastle
- Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2S 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...
- Autosomal dominant sacral agenesis: Currarino syndromeS 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...
- 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...
- A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36S 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...
- Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcomaA 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...
- NBCCS secondary to an interstitial chromosome 9q deletionM 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...
- Recurrence risk for psoriasis and psoriatic arthritis within sibshipsA 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...
- 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...
- Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK populationC 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)...
- Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotypeC 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....
- ARC syndrome: an expanding range of phenotypesK 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...
- Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome geneD 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...
- A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesisA 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...
- Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectivelyJ L Walker
Department of Biochemistry, University of Oxford, U.K
Hum Mutat 9:53-6. 1997
- Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifidaK 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...
- Cascade screening in BRCA1/2 mutation carriersN 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...