Search Results - "Hamel, B.C"

Clinical and molecular overlap between myopathies and inherited connective tissue diseases by Voermans, N.C, Bönnemann, C.G, Huijing, P.A, Hamel, B.C, van Kuppevelt, T.H, de Haan, A, Schalkwijk, J, van Engelen, B.G, Jenniskens, G.J

“…Abstract This review presents an overview of myopathies and inherited connective tissue disorders that are caused by defects in or deficiencies of molecules…”
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Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay by Refke, M., Pasternack, S.M., Fiebig, B., Wenzel, S., Ishorst, N., Ludwig, M., Nöthen, M.M., Seyger, M.M., Hamel, B.C., Betz, R.C.

“…Summary Background  Congenital atrichia is a rare autosomal recessive form of isolated alopecia which is caused by mutations in the human hairless (HR) gene…”
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Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients by Voermans, N.C, Altenburg, T.M, Hamel, B.C, de Haan, A, van Engelen, B.G

“…Abstract The Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. Skeletal muscle features belong to the clinical…”
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Compound-heterozygous Marfan syndrome by Van Dijk, F.S, Hamel, B.C, Hilhorst-Hofstee, Y, Mulder, B.J.M, Timmermans, J, Pals, G, Cobben, J.M

“…Abstract We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation…”
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PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa by Dekker, M.C.J., Suleiman, J.M., Bhwana, D., Howlett, W.P., Rashid, S.M., van Minkelen, R., Hamel, B.C.

“…•Parkinson's disease in Sub Saharan Africa is likely underdiagnosed.•PRKN mutations were found in a parkinsonism kindred from Kilimanjaro, Tanzania.•The PRKN…”
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First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features by Dekker, M.C.J., Tieleman, A.A., Igogo, O.J., van Duyvenvoorde, H.A., Howlett, W.P., Hamel, B.C.

“…•The first patient with genetically confirmed Becker muscular dystrophy in Tanzania.•The patient only presented in middle age, when a complication occurred…”
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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation by Voermans, N.C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M.C., Bönnemann, C., van Engelen, B.G., Hamel, B.C.

“…We here report on a 20‐year‐old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST‐1 deficiency, accompanied by…”
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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by Hamel, Ben C. J., Willemsen, M. A. A. P., Mbwasi, R. M., Mc Larty, R., Sadiq, A. M., Dekker, Marieke C. J., Waterham, H. R.

“…Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been…”
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Ehlers-Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies by Voermans, N.C., Jenniskens, G.J., Hamel, B.C., Schalkwijk, J., Guicheney, P., van Engelen, B.G.

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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa by Hamel, Ben C. J., Kamsteeg, E.-J., Kinabo, Grace, Mbwasi, R. M., Ali, A. M., Dekker, Marieke C. J.

“…We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal…”
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P.P.7 10 Quantitative muscle function in Ehlers-Danlos syndrome by Voermans, N.C., Altenburg, T.M., Hamel, B.C., de Haan, A., van Engelen, B.G.

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P.P.7 11 Recurrent neuropathy associated with Ehlers-Danlos syndrome by Voermans, N.C., Drost, G., van Kampen, A., Gabreëls-Festen, A.A., Lammens, M., Hamel, B.C., Schalkwijk, J., van Engelen, B.G.

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Marfan syndrome masked by Down syndrome? by Vis, J. C., van Engelen, K., Timmermans, J., Hamel, B. C., Mulder, B. J. M.

“…Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old…”
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Recessive multiple epiphyseal dysplasia by Ballhausen, D, Bonafe, L, Terhal, P, Unger, S.L, Bellus, G, Classen, M, Hamel, B.C, Spranger, J, Zabel, B, Cohn, D.H, Cole, W.G, Hecht, J.T, Supe

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