Clinical Genetics

Distal limb malformations: underlying mechanisms and clinical associations
pp. 165-172(8)
Authors: Sifakis, S; Basel, D; Ianakiev, P; Kilpatrick, MW; Tsipouras, P

Discoveries in Charcot-Marie-Tooth disease, Crohn's disease and Bardet-Biedl syndrome 4
pp. 173-174(2)
Authors: Warby, Simon; Slow, Elizabeth; Coburn, Bryan

Discoveries in Charcot-Marie-Tooth disease, Crohn's disease and Bardet-Biedl syndrome 4
pp. 174-176(3)
Authors: Warby, Simon; Slow, Elizabeth; Coburn, Bryan

Discoveries in Charcot-Marie-Tooth disease, Crohn's disease and Bardet-Biedl syndrome 4
pp. 176-177(2)
Authors: Warby, Simon; Slow, Elizabeth; Coburn, Bryan

Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences
pp. 178-187(10)
Authors: Floros, J; Fan, R; Matthews, A; DiAngelo, S; Luo, J; Nielsen, H; Dunn, M; Gewolb, I H; Koppe, J; van Sonderen, L; Farri-Kostopoulos, L; Tzaki, M; Rämet, M; Merrill, J

Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia
pp. 188-197(10)
Authors: Kim, H; Marcovina, SM; Edwards, KL; McKnight, B; Bradley, CM; McNeely, MJ; Psaty, BM; Motulsky, AG; Austin, MA

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
pp. 198-205(8)
Authors: Almqvist, EW; Elterman, DS; MacLeod, PM; Hayden, MR

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features
pp. 206-211(6)
Authors: Orellana, C; Martínez, F; Badía, L; Millán, JM; Montero, MR; Andrés, J; Prieto, F

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
pp. 212-219(8)
Authors: Joly, G; Lapierre, J-M; Ozilou, C; Gosset, P; Aurias, A; de Blois, M-C; Prieur, M; Raoul, O; Colleaux, L; Munnich, A; Romana, SP; Vekemans, M; Turleau, C

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma
pp. 220-225(6)
Authors: Colomb, E; Nguyen, TD; Béchetoille, A; Dascotte, J-C; Valtot, F; Brézin, AP; Berkani, M; Copin, B; Gomez, L; Polansky, JR; Garchon, H-J

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region
pp. 226-231(6)
Author: Kotzot, D

Medical genetics and patient use of the Internet
pp. 232-236(5)
Authors: Christian, SM; Kieffer, SA; Leonard, NJ

Features within the holoprosencephaly spectrum in sibs with a Robertsonian (14q;22q) translocation chromosome
pp. 237-239(3)
Authors: Kamnasaran, D; Gerritsen, JA; McLeod, DR; Cox, DW

Hypermobility type of Ehlers-Danlos syndrome: influence of pregnancies
pp. 240-241(2)
Authors: Golfier, François; Peyrol, Simone; Attia-Sobol, Jocelyne; Marret, Henri; Raudrant, Daniel; Plauchu, Henri