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216 results on '"Mabin D"'

2. Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy

Author

Robinson, H.K., primary, Zaklyazminskaya, E., additional, Povolotskaya, I., additional, Surikova, Y., additional, Mallin, L., additional, Armstrong, C., additional, Mabin, D., additional, Benke, P.J., additional, Chrisant, M.R., additional, McDonald, M., additional, Marboe, C.C., additional, Agre, K.E., additional, Deyle, D.R., additional, McWalter, K., additional, Douglas, G., additional, Balashova, M.S., additional, Kaimonov, V., additional, Shirokova, N., additional, Pomerantseva, E., additional, Turner, C.L., additional, and Ellard, S., additional

Published
2020
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11. Clinical and Electrophysiological Phenotype of a Homozygously Duplicated Charcot-Marie-Tooth (Type 1A) Disease

Author

Franck Sturtz, Guy Chazot, Antoon Vandenberghe, Cruz S, Mabin D, Philippe Latour, Mocquard Y, Fenoll B, and LeFur Jm

Subjects
Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Neural Conduction, Motor nerve, Biology, Nerve conduction velocity, Central nervous system disease, Degenerative disease, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Age of Onset, Child, Genetics, Homozygote, Heterozygote advantage, DNA, Anatomy, medicine.disease, Phenotype, Pedigree, Electrophysiology, Chromosome 17 (human), Scoliosis, Neurology, Multigene Family, Female, Neurology (clinical), Chromosomes, Human, Pair 17
Abstract

Type 1A of Charcot-Marie-Tooth disease (CMT1A) is associated with a microduplication of chromosome 17 (region 17p 11.2) which contains PMP22, an important gene for peripheral nerve myelination. Patients carrying two duplications are expected to have a more severe phenotype, close to the Dejerine-Sottas syndrome. In this article, we report a family of 5 CMT1A patients in whom the unrelated father and mother carry a 17p11.2 duplication. The 2 daughters carry only one duplication (one given by the father, the other given by the mother), but the son carries two 17p11.2 duplications. Interestingly, the clinical phenotype of the son is more severe (scoliosis) compared to those of his sisters, but his motor nerve conduction velocities are in the range of a heterozygote CMT1A patient. The mechanisms leading to a more severe phenotype for CMT1A are discussed and may not be strictly related to lower nerve conduction velocities.

Published
1997
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12. Pyridoxine in atopic dermatitis.

Author

Mabin, D. C., Hollis, S., Lockwood, J., David, T. J., Mabin, D. C., Hollis, S., Lockwood, J., and David, T. J.

Abstract

Summary A previous study has reported benefit when pyridoxine hydrochloride was given to patients with atopic dermatitis. To investigate this in children, we performed a randomized, double-blind, parallel-group, placebo-controlled trial. Forty-eight children with moderate or severe atopic dermatitis were recruited and, of those who completed the study, 19 received pyridoxine hydrochloride 50 mg once daily for 4 weeks and 22 received placebo. Disease activity was monitored by clinical severity scores measuring the extent and degrees of erythema recorded by the investigator and symptom scores (daytime itch and nocturnal sleep disturbance) recorded by parents. There was no statistically significant difference between the two groups at the end of treatment. We have been unable to demonstrate clinical benefit from pyridoxine supplementation in children with atopic dermatitis.

Published
1995

30. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A

Author

Lopes, J., Leguern, E., Gouider, R., Tardieu, S., Abbas, N., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Alexis Brice, Arnebes, Mc, Brichet, B., Chapon, F., Chazot, G., Clavelou, P., Desnuelle, C., Diraison, P., Dubas, F., Gonnaud, Pm, Hurtevent, Jf, Kuntzer, T., Lagueny, A., Mabin, D., Mayer, M., Ochsner, F., Ollagnonroman, E., Pouget, J., Tabaraud, F., Vallat, Jm, and Vandenberghe, A.

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