KNAW

Back to search results
Person

Prof.dr. B.C.J. Hamel

Pagina-navigatie:
filter results
Type
Date
Accessibility
Institution

31-40 out of 115 results by:date

Save search results

  • PORCN mutations in focal dermal hypoplasia: coping with lethality. (2009)

    Authors:Bornholdt, D.; Oeffner, F.; Konig, A.; Happle, R.H.G.; Alanay, Y.; Ascherman, J.; Benke, P.J.; Boente Mdel, C.; Burgt, I. van der; Chassaing, N.; Ellis, I.; Francisco, C.R.; Giovanna, P. Della; Hamel, B.C.J.; Has, C.; Heinelt, K.; Janecke, A.; Kastrup, W.; Loeys, B.; Lohrisch, I.; Marcelis, C.L.M.; Mehraein, Y.; Nicolas, M.E.; Pagliarini, D.; Paradisi, M.; Patrizi, A.; Piccione, M.; Piza-Katzer, H.; Prager, B.; Prescott, K.; Strien, J.; Utine, G.E.; Zeller, M.S.; Grzeschik, K.H.
    In:Human Mutation, 30, E618 - E628. ISSN 1059-7794.

    Abstract:

    The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrel

  • MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (2008)

    Authors:Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van; Portes, V. des; Moog, U.; Macville, M.V.; Roozendaal, K. van; Schrander-Stumpel, C.T.; Tzschach, A.; Marynen, P.; Fryns, J.P.; Hamel, B.C.J.; Bokhoven, H. van; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H.H.; Froyen, G.; Kuss, A.W.
    In:European Journal of Human Genetics, 16, 1029 - 1037. ISSN 1018-4813.

    Abstract:

    Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores

  • Clinical and molecular overlap between myopathies and inherited connective tissue diseases. (2008)

    Authors:Voermans, N.C.; Bonnemann, C.G.; Huijing, P.A.; Hamel, B.C.J.; Kuppevelt, A.H.M.S.M. van; Haan, A. de; Schalkwijk, J.; Engelen, B.G.M. van; Jenniskens, G.J.
    In:Neuromuscular Disorders, 18, 843 - 856. ISSN 0960-8966.

    Abstract:

    This review presents an overview of myopathies and inherited connective tissue disorders that are caused by defects in or deficiencies of molecules within the extracellular matrix (ECM). We will cover the myopathies caused by defects in transmembrane protein complexes (dystroglycan, sarcoglycan, and

  • Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. (2008)

    Authors:Bon, B.W.M. van; Koolen, D.A.; Borgatti, R.; Magee, A.; Garcia-Minaur, S.; Rooms, L.; Reardon, W.; Zollino, M.; Bonaglia, M.C.; Gregori, M. de; Novara, F.; Grasso, R.; Ciccone, R.; Duyvenvoorde, H.A. van; Aalbers, A.M.; Guerrini, R.; Fazzi, E.; Nillesen, W.M.; McCullough, S.; Kant, S.G.; Marcelis, C.L.M.; Pfundt, R.P.; Leeuw, N. de; Smeets, D.; Sistermans, E.A.; Wit, J.M.; Hamel, B.C.J.; Brunner, H.G.; Kooy, F.; Zuffardi, O.; Vries, L.B.A. de
    In:Journal of Medical Genetics, 45, 346 - 354. ISSN 1468-6244.

    Abstract:

    BACKGROUND: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microcephaly, growth retardation, a distinct facial appearance and various midline defects including corpus callosum abnormalit

  • Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. (2008)

    Authors:Betsalel, O.T.; Kamp, JM van de; Martinez-Munoz, C.; Rosenberg, E.H.; Brouwer, A.P.M. de; Pouwels, P.J.; Knaap, M.S. van der; Mancini, G.M.; Jakobs, C.; Hamel, B.C.J.; Salomons, G.S.
    In:Neurogenetics, 9, 183 - 190. ISSN 1364-6745.

    Abstract:

    Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation

  • Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. (2008)

    Authors:Griffith, E.; Walker, S.; Martin, C.A.; Vagnarelli, P.; Stiff, T.; Vernay, B.; Sanna, N. Al; Saggar, A.; Hamel, B.C.J.; Earnshaw, W.C.; Jeggo, P.A.; Jackson, A.P.; O'Driscoll, M.
    In:Nature Genetics, 40, 232 - 236. ISSN 1061-4036.

    Abstract:

    Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling. Only a single hypomorphic mutation of ATR has been identified in this genetical

  • Arts syndrome is caused by loss-of-function mutations in PRPS1 (2007)

    Authors:Brouwer, A.P.M. de; Williams, K.L.; Duley, J.A.; Kuilenburg, A.B. van; Nabuurs, S.B.; Egmont-Peterson, M.; Lugtenberg, D.; Zoetekouw, L.; Banning, M.J.G.; Roeffen, M.; Hamel, B.C.J.; Weaving, L.; Ouvrier, R.A.; Donald, J.A.; Wevers, R.A.; Christodoulou, J.; Bokhoven, J.H.L.M. van
    In:American journal of human genetics, 81, 507 - 518. ISSN 0002-9297.

    Abstract:

    Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotid

  • Arts syndrome is caused by loss-of-function mutations in PRPS1 (2007)

    Authors:Brouwer, A.P.M. de; Williams, K.L.; Duley, J.A.; Kuilenburg, A.B.P. van; Nabuurs, S.B.; Egmont-Peterson, M.; Lugtenberg, D.; Zoetekouw, L.; Banning, M.J.G.; Roeffen, M.; Hamel, B.C.J.; Weaving, L.; Ouvrier, R.A.; Donald, J.A.; Wevers, R.A.; Christodoulou, J.; Bokhoven, J.H.L.M. van
    In:American journal of human genetics, 81, 507 - 518. ISSN 0002-9297.

    Abstract:

    Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotid

  • X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. (2007)

    Authors:Jensen, L.R.; Lenzner, S.; Moser, B.; Freude, K.; Tzschach, A.; Wei, C.; Fryns, J.P.; Chelly, J.; Turner, G.; Moraine, C.; Hamel, B.C.J.; Ropers, H.H.; Kuss, A.W.
    In:European Journal of Human Genetics, 15, 68 - 75. ISSN 1018-4813.

    Abstract:

    About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4 Mb interval flanked by the genes ELK1 and ALAS2. To search for these mutations, 47 brain-expres

  • Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. (2007)

    Authors:Voermans, N.C.; Jenniskens, G.J.; Hamel, B.C.J.; Schalkwijk, J.; Guicheney, P.; Engelen, B.G.M. van
    In:American Journal of Medical Genetics Part A, 143, 2215 - 2219. ISSN 1552-4825.

Pages:

<< < 1 2 3 4 5 6 7 8 9 10 > >>

Go to page top
Go back to contents
Go back to site navigation