Clinical Genetics

Internet resources for the clinical geneticist
pp. 179-185(7)
Author: Ouellette, Francis

Timing is everything: especially with loss of tumor suppressor genes
pp. 186-188(3)
Author: Andrew, Susan

Noncoding germline mutations in p16/CDKN2A in melanoma-prone families
pp. 188-190(3)
Author: Andrew, Susan

PIK3CA: determining its role in cellular proliferation and ovarian cancer
pp. 190-191(2)
Author: Andrew, Susan

Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities
pp. 192-199(8)
Authors: Joyce, Christine A; Ross, Fiona M; Dennis, Nicholas R; Wyre, Nicholas D; Barber, John Ck

Genetic and environmental sources of QT interval variability in Israeli families: the kibbutz settlements family study
pp. 200-209(10)
Authors: Friedlander, Yechiel; Lapidos, Tyrone; Sinnreich, Ronit; Kark, Jeremy D

Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BESS)
pp. 210-215(6)
Authors: Brieger, Jürgen; Weidt, Eberhard J.; Gansen, Karen; Jochen Decker, H.

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene
pp. 216-220(5)
Authors: Dean, John Cs; Moore, Susan J; Osborne, Aileen; Howe, Jonathan; Turnpenny, Peter D

The vitamin D receptor FokI start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women
pp. 221-224(4)
Authors: Lucotte, Gérard; Mercier, Géraldine; Burckel, André

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia
pp. 225-231(7)
Authors: Bourbon, Mafalda; Fowler, A. Michelle; Sun, Xi-Ming; Soutar, Anne K.

Definition of the smallest pathological CAG expansion in SCA7
pp. 232-234(3)
Authors: Nardacchione, A; Orsi, L; Brusco, A; Franco, A; Grosso, E; Dragone, E; Mortara, P; Schiffer, D; De Marchi, M

Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency
pp. 235-237(3)
Authors: Spriggs, E. L.; Marles, S. L.; Lacson, A.; McRae, K.; Bowman, N.; Sachdeva, R.; Monson, R.; Dilling, L.; Greenberg, C. R.

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype
pp. 238-241(4)
Authors: Innes, Am; Chudley, Ae; Carson, Nl; Dawson, Aj

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients
pp. 242-243(2)
Authors: Cruz-Robles, D; García-Torres, R; Antignac, C; Forestier, L; García de la Puente, S; Correa-Rotter, R; García-López, E; Orozco, L

Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene
pp. 244-246(3)
Authors: Andersen, Ps; Havndrup, O; Bundgaard, H; Larsen, La; Vuust, J; Kjeldsen, K; Christiansen, M