Clinical Genetics

Volume 60, Number 3, September 2001

Links for this Journal

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003
Ingenta Connect ISSN
Open URL

Mini Review

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00001
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=165&epage=172
http://dx.doi.org/10.1034/j.1399-0004.2001.600301.x

HotSpots

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00002
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=173&epage=174
http://dx.doi.org/10.1034/j.1399-0004.2001.600302.1.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00003
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=174&epage=176
http://dx.doi.org/10.1034/j.1399-0004.2001.600302.2.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00004
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=176&epage=177
http://dx.doi.org/10.1034/j.1399-0004.2001.600302.3.x

Original Articles

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00005
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=178&epage=187
http://dx.doi.org/10.1034/j.1399-0004.2001.600303.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00006
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=188&epage=197
http://dx.doi.org/10.1034/j.1399-0004.2001.600304.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00007
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=198&epage=205
http://dx.doi.org/10.1034/j.1399-0004.2001.600305.x

Short Reports

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00008
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=206&epage=211
http://dx.doi.org/10.1034/j.1399-0004.2001.600306.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00009
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=212&epage=219
http://dx.doi.org/10.1034/j.1399-0004.2001.600307.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00010
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=220&epage=225
http://dx.doi.org/10.1034/j.1399-0004.2001.600308.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00011
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=226&epage=231
http://dx.doi.org/10.1034/j.1399-0004.2001.600309.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00012
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=232&epage=236
http://dx.doi.org/10.1034/j.1399-0004.2001.600310.x

Letters to the Editor

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00013
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=237&epage=239
http://dx.doi.org/10.1034/j.1399-0004.2001.600311.x

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

Links for this article

http://www.ingentaconnect.com/content/mksg/cge/2001/00000060/00000003/art00014
http://openurl.ingenta.com/content?genre=article&issn=0009-9163&volume=60&issue=3&spage=240&epage=241
http://dx.doi.org/10.1034/j.1399-0004.2001.600312.x