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Your search keyword '"Lynch, S.A."' showing total 7 results
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7 results on '"Lynch, S.A."'

1. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Author

Zweier, C., Sticht, H., Bijlsma, E.K., Clayton-Smith, J., Boonen, S.E., Fryer, A., Greally, M.T., Hoffmann, L., den Hollander, N.S., Jongmans, M., Kant, S.G., King, M.D., Lynch, S.A., McKee, S., Midro, A.T., Park, S.-M., Ricotti, V., Tarantino, E., Wessels, M., Peippo, M., and Rauch, A.

Subjects
DNA binding proteins -- Research, DNA binding proteins -- Physiological aspects, Mental retardation -- Research, Mental retardation -- Genetic aspects, Mental retardation -- Diagnosis, Phenotype -- Research, Phenotype -- Physiological aspects, Genotype -- Research, Genotype -- Physiological aspects, Health
Published
2008

4. Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. (Case Report)

Author

Lynch, S.A., Whatley, S.D., Ramesh, V., Sinha, S., and Ravine, D.

Subjects
Gene mutations -- Health aspects -- Case studies, Encephalopathy -- Case studies -- Health aspects, Infants -- Diseases -- Case studies -- Health aspects, Family and marriage, Health, Women's issues/gender studies, Diseases, Case studies, Health aspects
Abstract

The case of a male infant with neonatal encephalopathy and a de novo MECP2 mutation is reported. The presenting phenotype of decelerating head growth, spasticity, scoliosis, and central respiratory disturbance [...]

Published
2003

5. Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma. (Short Report)

Author

Lampe, A.K., Seymour, G., Thompson, P.W., Toutain, A., and Lynch, S.A.

Subjects
Children -- Diseases, Neurofibromatosis -- Care and treatment, Rhabdomyosarcoma -- Care and treatment, Family and marriage, Health, Care and treatment
Abstract

Neurofibromatosis type 1 with dysmorphism and developmental delay is reported in a mother and two children. The son required treatment for a prostatic rhabdomyosarcoma. His sister has an optic pathway [...]

Published
2002

6. Prospective study of development of infants born to mothers with epilepsy. (Proceedings)

Author

James, F.H., Fairgrieve, S., Lynch, S.A., and Jackson, M.J.

Subjects
Pregnancy -- Health aspects, Child development deviations -- Risk factors, Infants -- Development, Epilepsy -- Health aspects -- Risk factors, Developmental disabilities -- Risk factors, Health, Psychology and mental health, Risk factors, Health aspects
Abstract

Objective: to establish if infants born to mothers with epilepsy are at increased risk of developmental delay. Methods: Our prospective study of pregnant women with epilepsy identified 292 babies whose [...]

Published
2002

7. The health status of mussels, Mytilus spp., in Ireland and Wales with the molecular identification of a previously undescribed haplosporidian.

Author

Lynch, S.A., Morgan, E., Carlsson, J., Mackenzie, C., Wooton, E.C., Rowley, A.F., Malham, S., and Culloty, S.C.

Subjects
*MEDICAL statistics, *MUSSELS, *MYTILUS, *HEALTH surveys, *WATER quality, PARASITE physiology
Abstract

Highlights: [•] Health survey carried out on wild and cultured Mytilus spp. in Ireland and Wales, UK. [•] Relationship between site water quality and parasite community in mussels examined. [•] A range of parasites observed but generally at low levels. [•] Ciliate, trematode, prokaryote inclusions and Nematopsis species most commonly observed. [•] A previously undescribed haplosporidian was detected in Mytilus edulis in Wales. [Copyright &y& Elsevier]

Published
2014
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