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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
Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
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