Zobrazeno 1 - 10
of 43
pro vyhledávání: '"H.A. Phillips"'
Autor:
D.J. Storey, M. Sakala, C.M. McLean, H.A. Phillips, L.K. Dawson, L.R. Wall, M.T. Fallon, S. Clive
Publikováno v:
Annals of oncology : official journal of the European Society for Medical Oncology. 22(1)
Autor:
Jayesh Patel, Ortrud K. Steinlein, Richard Roberts, David Goudie, Samuel F. Berkovic, Ingrid E. Scheffer, Wenli Gu, Stylianos E. Antonarakis, Jean-Charles Hoda, H.A. Phillips, Marc Friedli, Carla Marini, Daniel Bertrand, John C. Mulley, Sonia Bertrand
Publikováno v:
Molecular pharmacology, Vol. 74, No 2 (2008) pp. 379-91
Certain mutations in specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). All but one of the known causative
Autor:
Regula S. Briellmann, P. Izzillo, Miriam Y. Neufeld, Jacinta M McMahon, Amos D. Korczyn, John C. Mulley, Samuel F. Berkovic, Anne M. McIntosh, Aziz Mazarib, Ingrid E. Scheffer, Robyn H. Wallace, H.A. Phillips, Louise A. Harkin
Publikováno v:
Neurology. 62:1115-1119
Background and Objectives: A number of familial temporal lobe epilepsies (TLE) have been recently recognized. Mutations in LGI1 (leucine-rich, glioma-inactivated 1 gene) have been found in a few families with the syndrome of autosomal dominant partia
Autor:
Samuel F. Berkovic, Isabelle Favre, David Goudie, Sarah E. Heron, Grant R. Sutherland, Ingrid E. Scheffer, H.A. Phillips, Daniel Bertrand, John C. Mulley, Martin Kirkpatrick, Sameer M. Zuberi
Publikováno v:
The American Journal of Human Genetics. 68:225-231
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine recepto
Autor:
Samuel F. Berkovic, H.A. Phillips, Carla Marini, Ingrid E. Scheffer, Grant R. Sutherland, John C. Mulley
Publikováno v:
Annals of Neurology. 48:264-267
Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30-year-old woman diagnosed as having sp
Publikováno v:
The Breast. 7:139-142
There is evidence that the regulatory subunits (R) of cyclic AMP-dependent protein kinase A (PKA) are important in the biology of breast cancer and that mutations of both RIα and RIIβ, alter cellular behaviour. Consequently, a PCR-SSCP assay was es
Autor:
H.A. Phillips
Publikováno v:
Clinical Oncology. 18:591-593
Autor:
G.C.W. Howard, H.A. Phillips
Publikováno v:
Clinical Oncology. 8:35-38
The role of split course radical radiotherapy in bladder cancer is controversial. We have pursued such a policy in elderly patients in view of the unpredictable toxicity of radical radiotherapy in this group. Between 1987 and 1992, 76 patients were t
Autor:
Guy A. Rouleau, H.A. Phillips, Fernando Cendes, F. Andermann, John C. Mulley, Richard Desbiens, Ingrid E. Scheffer, Eva Andermann, Iscia Lopes-Cendes, Simon Verret, Samuel F. Berkovic
Publikováno v:
Epilepsy Research. 22:227-233
Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. I
Autor:
Grant R. Sutherland, MA Vadas, Richard J D'Andrea, Eric J. Kremer, C Petit, Rima Slim, PA Moretti, Angel F. Lopez, H.A. Phillips, Elizabeth Baker
Publikováno v:
Blood. 82:22-28
The receptors for interleukin-3 (IL-3), IL-5, and granulocyte- macrophage colony-stimulating factor (GM-CSF) are heterodimers comprised of ligand specific alpha chains and a common beta chain. The genes encoding the IL-5 receptor alpha chain and the