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Table of contents of journal: *Journal of medical genetics

Results: 1-25/2563

Authors: van Tilburg, J van Haeften, TW Pearson, P Wijmenga, C
Citation: J. Van Tilburg et al., Defining the genetic contribution of type 2 diabetes mellitus, J MED GENET, 38(9), 2001, pp. 569-578

Authors: Priolo, M Lagana, C
Citation: M. Priolo et C. Lagana, Ectodermal dysplasias: a new clinical-genetic classification, J MED GENET, 38(9), 2001, pp. 579-585

Authors: De Leersnyder, H de Blois, MC Vekemans, M Sidi, D Villain, E Kindermans, C Munnich, A
Citation: H. De Leersnyder et al., beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome, J MED GENET, 38(9), 2001, pp. 586-590

Authors: Boucher, CA Sargent, CA Ogata, T Affara, NA
Citation: Ca. Boucher et al., Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location, J MED GENET, 38(9), 2001, pp. 591-598

Authors: Kelly, AL Lunt, PW Rodrigues, F Berry, PJ Flynn, DM McKiernan, PJ Kelly, DA Mieli-Vergani, G Cox, TM
Citation: Al. Kelly et al., Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in ironmetabolism, J MED GENET, 38(9), 2001, pp. 599-610

Authors: Payne, AM Morris, AG Downes, SM Johnson, S Bird, AC Moore, AT Bhattacharya, SS Hunt, DM
Citation: Am. Payne et al., Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies, J MED GENET, 38(9), 2001, pp. 611-614

Authors: Rupar, CA Matsell, D Surry, S Siu, V
Citation: Ca. Rupar et al., A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population, J MED GENET, 38(9), 2001, pp. 615-616

Authors: Tonnies, H Schulze, I Hennies, HC Neumann, LM Keitzer, R Neitzel, H
Citation: H. Tonnies et al., De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes, J MED GENET, 38(9), 2001, pp. 617-621

Authors: Syrrou, M Fryns, JP
Citation: M. Syrrou et Jp. Fryns, Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay, J MED GENET, 38(9), 2001, pp. 621-624

Authors: Hegde, MR Chong, B Fawkner, M Lambiris, N Peters, H Kenneson, A Warren, ST Love, DR McGaughran, J
Citation: Mr. Hegde et al., Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification, J MED GENET, 38(9), 2001, pp. 624-629

Authors: Boutouyrie, P Laurent, S Laloux, B Lidove, O Grunfeld, JP Germain, DP
Citation: P. Boutouyrie et al., Non-invasive evaluation of arterial involvement in patients affected with Fabry disease, J MED GENET, 38(9), 2001, pp. 629-631

Authors: Mura, C Le Gac, G Scotet, V Raguenes, O Mercier, AY Ferec, C
Citation: C. Mura et al., Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs, J MED GENET, 38(9), 2001, pp. 632-636

Authors: Pescarmona, GP D'Amelio, P Morra, E Isaia, GC
Citation: Gp. Pescarmona et al., Haptoglobin genotype as a risk factor for postmenopausal osteoporosis, J MED GENET, 38(9), 2001, pp. 636-638

Authors: Bahuau, M Pelet, A Vidaud, D Lamireau, T Le Bail, B Munnich, A Vidaud, M Lyonnet, S Lacombe, D
Citation: M. Bahuau et al., GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype, J MED GENET, 38(9), 2001, pp. 638-643

Authors: Clementi, R zur Stadt, U Savoldi, G Varotto, S Conter, V De Fusco, C Notarangelo, LD Schneider, M Klersy, C Janka, G Danesino, C Arico, M
Citation: R. Clementi et al., Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis, J MED GENET, 38(9), 2001, pp. 643-646

Authors: Boardman, JP Syrris, P Holder, SE Robertson, NJ Carter, N Lakhoo, K
Citation: Jp. Boardman et al., A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome, J MED GENET, 38(9), 2001, pp. 646-647

Authors: Kotzot, D
Citation: D. Kotzot, Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements, J MED GENET, 38(8), 2001, pp. 497-507

Authors: Bender, BU Eng, C Olschewski, M Berger, DP Laubenberger, J Altehofer, C Kirste, G Orszagh, M van Velthoven, V Miosczka, H Schmidt, D Neumann, HPH
Citation: Bu. Bender et al., VHL c.505 T > C mutation confers a high age related penetrance but no increased overall mortality, J MED GENET, 38(8), 2001, pp. 508-514

Authors: Van Laer, L Coucke, P Mueller, RF Caethoven, G Flothmann, K Prasad, SD Chamberlin, GP Houseman, M Taylor, GR Van de Heyning, CM Fransen, E Rowland, J Cucci, RA Smith, RJH Van Camp, G
Citation: L. Van Laer et al., A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment, J MED GENET, 38(8), 2001, pp. 515-518

Authors: Michie, S Bobrow, M Marteau, TM
Citation: S. Michie et al., Predictive genetic testing in children and adults: a study of emotional impact, J MED GENET, 38(8), 2001, pp. 519-526

Authors: Ausems, MGEM ten Berg, K Sandkuijl, LA Kroos, MA Bardoel, AFJ Roumelioti, KN Reuser, AJJ Sinke, R Wijmenga, C
Citation: Mgem. Ausems et al., Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations, J MED GENET, 38(8), 2001, pp. 527-529

Authors: Rickard, S Kelsell, DP Sirimana, T Rajput, K MacArdle, B Bitner-Glindzicz, M
Citation: S. Rickard et al., Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families, J MED GENET, 38(8), 2001, pp. 530-533

Authors: Henwood, J Pickard, C Leek, JP Bennett, CP Crow, YJ Thomson, JDR Ahmed, M Watterson, KG Parsons, JM Roberts, E Lench, NJ
Citation: J. Henwood et al., A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?, J MED GENET, 38(8), 2001, pp. 533-536

Authors: Horvath, A Savov, A Kirov, S Karshelova, E Paskaleva, I Goudev, A Ganev, V
Citation: A. Horvath et al., High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects, J MED GENET, 38(8), 2001, pp. 536-540

Authors: Welkenhuysen, M Evers-Kiebooms, G Decruyenaere, M Claes, E Denayer, L
Citation: M. Welkenhuysen et al., A community based study on intentions regarding predictive testing for hereditary breast cancer, J MED GENET, 38(8), 2001, pp. 540-547
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