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1. • Journal article

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   A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

   Fransen, E Verstreken, M Bom, SJH Lemaire, F Kemperman, MH De Kok, YJM Wuyts, FL Verhagen, WIM Huygen, PLM McGuirt, WT Smith, RJH Van Maldergem, L. Declau, F Cremers, CWRJ Van de Heyning, PH Cremers, FPM Van Camp, G. (2001) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 38, no. 1, p. 61-64 (2001)
2. • Journal article

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   Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

   de Koning, TJ Jaeken, J. Pineda, M Van Maldergem, L. Poll-The, BT van der Knaap, MS (2000) Neuropediatrics : journal of pediatric neurobiology, neurology and neurosurgery — Vol. 31, no. 6, p. 287-292 (2000)
3. • Journal article

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   Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis

   Klomp, LWJ de Koning, TJ Malingre, HEM van Beurden, EACM Brink, M Opdam, FL Duran, M. Jaeken, J. Pineda, M Van Maldergem, L. Poll-The, BT van den Berg, IET Berger, R. (2000) American Journal of Human Genetics — Vol. 67, no. 6, p. 1389-1399 (2000)
4. • Speech

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   Successful pregnancy in a patient with Fabry disease receiving enzyme replacement therapy

   Dehout, F. Roland, D. Henry, Fabienne[UCL] Langlois, A Van Maldergem, L. (2006) —
5. • Speech

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   Ophthalmological findings in a series of 20 patients with Fabry disease: preliminary results

   Vauthier, L Cobut, O Depasse, F Dehout, F. Van Maldergem, L. (2006) —
6. • Journal article

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   Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

   Loeys, B. Van Maldergem, L. Mortier, G. Coucke, P Gerniers, S Naeyaert, JM De Paepe, A. (2002) Human Molecular Genetics — Vol. 11, no. 18, p. 2113-2118 (2002)
7. • Journal article

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   Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

   Grohmann, K Varon, R Stolz, P Schuelke, M Janetzki, C Bertini, E. Bushby, K. Muntoni, F Ouvrier, R Van Maldergem, L. Goemans, NMLA Lochmuller, H Eichholz, S Adams, C. Bosch, F Grattan-Smith, P Navarro, C Neitzel, H Polster, T Topaloglu, H Steglich, C Guenther, UP Zerres, K. Rudnik-Schoneborn, S Hubner, C (2003) Annals of Neurology — Vol. 54, no. 6, p. 719-724 (2003)
8. • Journal article

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   The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

   Dhamaraj, S Leroy, Bart P. Sohocki, MM Koenekoop, RK Perrault, I Anwar, K Khaliq, S Devi, RS Birch, DG De Pool, E Izquierdo, N Van Maldergem, L. Ismail, M Payne, AM Holder, GE Bhattacharya, SS Bird, AC Kaplan, J Maumenee, IH (2004) Archives of Ophthalmology — Vol. 122, no. 7, p. 1029-1037 (2004)
9. • Journal article

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   SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

   Bennett, CL Shirk, AJ Huynh, HM Street, VA Nelis, E. Van Maldergem, L. De Jonghe, P. Jordanova, A. Guergueltcheva, V Tournev, I Van den Bergh, Peter[UCL] Seeman, P Mazanec, R Prochazka, T Kremensky, I[UCL] Haberlova, J Weiss, MD Timmerman, V Bird, TD Chance, PF (2004) Annals of Neurology — Vol. 55, no. 5, p. 713-20 (2004)
10. • Journal article

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    The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

    Irobi, J Van den Bergh, Peter[UCL] Merlini, L Dumoulin, Christine[UCL] Van Maldergem, L. Dierick, I Verpoorten, N Jordanova, A. Windpassinger, C De Vriendt, E Van Gerwen, V Auer-Grumbach, M Wagner, K. Timmerman, V De Jonghe, P. (2004) Brain : a journal of neurology — Vol. 127, no. Pt 9, p. 2124-30 (2004)
11. • Journal article

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    Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly.

    Andries, S. Sartenaer, D. Rack, K. Rombout, S. Tuerlinckx, David[UCL] Gillerot, Y. Van Maldergem, L. (2002) Journal of medical genetics — Vol. 39, no. 10, p. e60 (2002)
12. • Journal article

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    Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

    Van Maldergem, L. Moser, A B Vincent, Marie-Françoise[UCL] Roland, D. Reding, Raymond[UCL] Otte, Jean-Bernard Wanders, R J Sokal, Etienne[UCL] (2005) Journal of Inherited Metabolic Disease — Vol. 28, no. 4, p. 593-600 (2005)
13. • Journal article

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    Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

    Windpassinger, C Van den Bergh, Peter[UCL] Auer-Grumbach, M Irobi, J Patel, H Petek, E Horl, G Malli, R Reed, JA Dierick, I Verpoorten, N Warner, TT Proukakis, C Dumoulin, Christine[UCL] Van Maldergem, L. Merlini, L De Jonghe, P. Timmerman, V Crosby, AH Wagner, K. (2004) Nature Genetics — Vol. 36, no. 3, p. 271-6 (2004)
14. • Speech

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    Recurrence of Kabuki make up syndrome in siblings.

    Monier, A Helsemans, C Van Maldergem, L. (1999) —
15. • Speech

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    Characterisation of a microdeletion in Xp11.23 associated with X-linked retinitis pigmentosa (RP2) and psychosis in a small family

    Thiselton, DL Brandau, O Meindl, A Riley, BP Kendler, KS Van Maldergem, L. Hardcastle, AJ (2002) 10th World Congress of Psychiatric Genetics — BRUSSELS(Belgium)
16. • Journal article

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    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

    Van Maldergem, L. Fourneau, C. Gillerot, Y. Tuerlinckx, David[UCL] Bachy, A. Wanders, R.J. Vianey-Saban, C. Van Hoof, François[UCL] Martin, J.-J. (2000) European Journal of Pediatrics — Vol. 159, no.1-2, p. 108-112 (2000)
17. • Speech

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    Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

    Van Maldergem, L. Magre, J Gedde-Dahl, T Khallouf, E Lathrop, M. Capeau, J O'Rahilly, S (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG(France)
18. • Speech

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    Enabling the translation of genetic research into diagnostic service: A comparison of three cases.

    Albott, CS Van Maldergem, L. (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG(France)
19. • Speech

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    Characterisation of a microdeletion in Xp11.23 cosegregating in a small family with X-linked retinitis pigmentosa (RP2) and psychosis.

    Thiselton, DL Brandau, O Meindl, A Riley, BP Kendler, KS Van Maldergem, L. Hardcastle, AJ (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
20. • Speech

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    Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

    Wuyts, W. Roland, D. Ludecke, HJ Wauters, J. Foulon, Michel[UCL] Van Hul, W. Van Maldergem, L. (2002) 49th Annual Meeting of the American-Society-of-Human-Genetics — SAN FRANCISCO(California)
21. • Speech

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    Low frequency of the GJB6 342 Kb deletion in the belgian deaf population.

    Hilbert, P Wuyts, W. Del Castillo, I Mariage, L Peeters, N Ligny, S Courtmans, I Fourneau, AF Moreno, F Van Camp, G. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
22. • Speech

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    Camurati-Engelmann disease is caused by mutations in the TGFB1 gene

    Janssens, K Gershoni-Baruch, R Guanabens, N Migone, N. Ralston, SH MacPherson, H Bonduelle, M. Lissens, W. Van Maldergem, L. Vanhoenacker, F. Verbruggen, L. Van Hul, W. (2001) —
23. • Journal article

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    Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

    Munroe, PB Olgunturk, RO Fryns, JP. Van Maldergem, L. Ziereisen, F Yuksel, B Gardiner, RM Chung, E (1999) Nature Genetics — Vol. 21, no. 1, p. 142-144 (1999)
24. • Speech

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    Berardinelli-Seip syndrome: a new Portuguese disease?

    Van Maldergem, L. De Silva, H Freitas, P D'Abronzo, F (1998) —
25. • Speech

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    Four Siblings With Methylglutaconic Aciduria, Optic Atrophy and Axonal Neuropathy: a New Recessive Disorder

    Van Maldergem, L. Cordonnier, M. Henriet, Marielle[UCL] Mundlos, S. Kelley, R. Gillerot, Y. (2005) —

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