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Prof.dr. B.C.J. Hamel

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  • Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). (2005)

    Authors:Topsakal, V.; Pennings, R.J.E.; Brinke, H. te; Hamel, B.C.J.; Huygen, P.L.M.; Kremer, J.M.J.; Cremers, C.W.R.J.
    In:Otology & Neurotology, 26, 52 - 58. ISSN 1531-7129.

    Abstract:

    OBJECTIVE: Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impairment guided only by the phenotype. STUDY DESIGN: Family study. SETTING: Tertiary referral center. PATIENTS: Fifteen family members. METHODS: In the first phase, sequence analysis was performed on DNA

  • Klinische genetica en erfelijke verstandelijke handicaps : quo vadit? (2005)Open access

    Author:Hamel, B.C.J.

  • X-linked mental retardation. (2005)

    Authors:Ropers, H.H.; Hamel, B.C.J.
    In:Nature Reviews Genetics, 6, 46 - 57. ISSN 1471-0056.

    Abstract:

    Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to th

  • X-linked mental retardation: further lumping, splitting and emerging phenotypes. (2005)

    Authors:Kleefstra, T.; Hamel, B.C.J.
    In:Clinical Genetics, 67, 451 - 467. ISSN 0009-9163.

    Abstract:

    X-linked mental retardation (XLMR) is a very heterogeneous condition, subdivided in two categories mainly based on clinical features: syndromic XLMR (MRXS) and non-syndromic XLMR (MRX). Although it was thought that 20-25% of mental retardation (MR) in males was caused by monogenetic X-linked factors

  • Renpenning syndrome comes into focus. (2005)

    Authors:Stevenson, R.E.; Bennett, C.W.; Abidi, F.; Kleefstra, T.; Porteous, M.; Simensen, R.; Lubs, H.A.; Hamel, B.C.J.; Schwartz, C.
    In:American Journal of Medical Genetics Part A, 134, 415 - 421. ISSN 1552-4825.

    Abstract:

    Renpenning syndrome represents a prototypic X-linked mental retardation condition with full expression of the phenotype in males and little or no expression in females. The predominant clinical findings are microcephaly, long narrow face, short stature with lean body build, and small testes. Mental

  • Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. (2005)

    Authors:Kleefstra, T.; Rosenberg, E.H.; Salomons, G.S.; Stroink, H.; Bokhoven, J.H.L.M. van; Hamel, B.C.J.; Vries, L.B.A. de
    In:Clinical Genetics, 68, 379 - 381. ISSN 0009-9163.

  • Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). (2005)

    Authors:Zenker, M.; Mayerle, J.; Lerch, M.M.; Tagariello, A.; Zerres, K.; Durie, P.R.; Beier, M.; Hulskamp, G.; Guzman, C.; Rehder, H.; Beemer, F.A.; Hamel, B.C.J.; Lieferinghen, P. van; Gershoni-Baruch, R.; Vieira, M.W.; Dumic, M.; Auslender, R.; Gil-da-Silva-Lopes, V.L.; Steinlicht, S.; Rauh, M.; Shalev, S.A.; Thiel, C.; Winterpacht, A.; Kwon, Y.T.; Varshavsky, A.; Reis, A.
    In:Nature Genetics, 37, 1345 - 1350. ISSN 1061-4036.

    Abstract:

    Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified m

  • Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. (2005)

    Authors:So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.M.M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B.C.J.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; Smagt, J.J. van der; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; Burgt, C.J.A. van der; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J.M.; Cox, T.; Schweiger, S.
    In:American Journal of Medical Genetics Part A, 132, 1 - 7. ISSN 1552-4825.

    Abstract:

    Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by

  • Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. (2005)

    Authors:Laumonnier, F.; Holbert, S.; Ronce, N.; Faravelli, F.; Lenzner, S.; Schwartz, C.; Lespinasse, J.; Esch, H. van; Lacombe, D.; Goizet, C.; Phan-Dinh Tuy, F.; Bokhoven, J.H.L.M. van; Fryns, J.P.; Chelly, J.; Ropers, H.H.; Moraine, C.; Hamel, B.C.J.; Briault, S.
    In:Journal of Medical Genetics, 42, 780 - 786. ISSN 1468-6244.

    Abstract:

    Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mo

  • Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males. (2005)

    Authors:Poirier, K.; Francis, F.; Hamel, B.C.J.; Moraine, C.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Bienvenu, T.
    In:European Journal of Human Genetics, 13, 523 - 524. ISSN 1018-4813.

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