Search Results - "MacDermot, K. D"

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females by MacDermot, K D, Holmes, A, Miners, A H

“…Owing to the lack of clinical data and present health care policy, we were unable to perform clinical investigations. [...]a large cohort study using an AFD…”
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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males by MacDermot, K D, Holmes, A, Miners, A H

“…OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The…”
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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients by Archer, H L, Whatley, S D, Evans, J C, Ravine, D, Huppke, P, Kerr, A, Bunyan, D, Kerr, B, Sweeney, E, Davies, S J, Reardon, W, Horn, J, MacDermot, K D, Smith, R A, Magee, A, Donaldson, A, Crow, Y, Hermon, G, Miedzybrodzka, Z, Cooper, D N, Lazarou, L, Butler, R, Sampson, J, Pilz, D T, Laccone, F, Clarke, A J

“…MECP2 mutations are identifiable in ∼80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the…”
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Natural history of Fabry disease in affected males and obligate carrier females by MacDermot, K. D., Holmes, A., Miners, A. H.

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 by Froguel, P, Beckmann, J. S, Walters, R. G, Jacquemont, S, Valsesia, A, de Smith, A. J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J. S, Chèvre, J.-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J. L, Boute, O, Holder-Espinasse, M, Cuisset, J.-M, Lemaitre, M.-P, Ambresin, A.-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J.-L, Le Caignec, C, David, A, Isidor, B, Cordier, M.-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Õunap, K, Bochukova, E. G, Henning, E, Keogh, J, Ellis, R. J, MacDermot, K. D, van Haelst, M. M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R. F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A.-L, McCarthy, M. I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M. E, O'Rahilly, S, Farooqi, I. S, Männik, K, Jarvelin, M.-R, Pattou, F, Meyre, D, Walley, A. J, Coin, L. J. M, Blakemore, A. I. F

“…Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic…”
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Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease by MacDermot, K D, Saggar-Malik, A K, Economides, D L, Jeffery, S

“…We describe four prenatal diagnoses in a family with autosomal dominant polycystic kidney disease. Two pregnancies were terminated following the detection of…”
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Assessment of Health-Related Quality-of-Life in Males with Anderson Fabry Disease before Therapeutic Intervention by A. H. Miners, Holmes, A., L. Sherr, Jenkinson, C., K. D. Mac Dermot

“…Anderson Fabry Disease (AFD) is an extremely painful and debilitating multi-system X-linked disorder due to α-galactosidase enzyme deficiency. To date, no…”
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Hearing improvement in patients with Fabry disease treated with agalsidase alfa by Hajioff, D, Goodwin, S, Quiney, R, Zuckerman, J, MacDermot, KD, Mehta, A

“…Aim: To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa…”
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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance by Hall, C M, Elcioglu, N H, MacDermot, K D, Offiah, A C, Winter, R M

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Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits by MacDermot, Kay D., Bonora, Elena, Sykes, Nuala, Coupe, Anne-Marie, Lai, Cecilia S.L., Vernes, Sonja C., Vargha-Khadem, Faraneh, McKenzie, Fiona, Smith, Robert L., Monaco, Anthony P., Fisher, Simon E.

“…FOXP2, the first gene to have been implicated in a developmental communication disorder, offers a unique entry point into neuromolecular mechanisms influencing…”
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Gene transfer and expression of human α-galactosidase from mouse muscle in vitro and in vivo by NOVO, F. J, GORECKI, D. C, GOLDSPINK, G, MACDERMOT, K. D

“…Lysosomal storage disorders are amenable to treatment by enzyme replacement. Genetic modification of muscle via direct injection of expression vectors might…”
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Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects' by MacDermot, K D, Winter, R M, Taylor, D, Baraitser, M

“…We report a mother and son with 5th, 6th, 7th, and bulbar cranial nerve paralysis, who had two similarly affected relatives. None of them had primary skeletal…”
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A novel acid α‐glucosidase mutation identified in a Pakistani family with glycogen storage disease type II by Kroos, M. A., Waitfield, A. E., Joosse, M., Winchester, B., Reuser, A. J. J., MacDermot, K. D.

“…A novel mutation, C118t, in exon 2 of the acid α‐glucosidase gene has been found in an infant with glycogen storage disease type II. This mutation is predicted…”
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Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus by MacDermot, K D, Buckley, B, Van Someren, V

“…We describe a single male infant who developed severe hydrops fetalis between 19 and 28 weeks of gestation. After delivery at 32 weeks he was treated by…”
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Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options by MacDermot, John, MacDermot, Kay D

“…An inherited deficiency of the enzyme α-galactosidase A is manifest clinically as Anderson-Fabry disease. Most affected patients present with severe peripheral…”
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Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review by MacDermot, K D, Winter, R M, Wigglesworth, J S, Strobel, S

“…We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic…”
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Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1) by Jeffery, Steve, Saggar-Malik, Anand K, Economides, Demetrios L, Blackmore, Sally E, MacDermot, Kay D

“…We present a family with adult onset autosomal dominant polycystic kidney disease (ADPKD) in two generations, linked to the PKD1 locus and with paternal…”
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Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome) by MACDERMOT, K. D, WINTER, R. M, MALCOLM, S

“…Genetic linkage studies were carried out in families with X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). A DNA probe DXYS1 (pDP34), which maps…”
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Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs by MacDermot, K D, Walker, R W

“…A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental…”
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Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography by CLARK, R. P, GOFF, M. R, MACDERMOT, K. D

“…In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in…”
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