Clinical Genetics

Genetic heterogeneity of autosomal dominant hypercholesterolemia
pp. 1-13(13)
Authors: Varret,; Abifadel,; Rabès,; Boileau,

Sex-linked deafness
pp. 14-23(10)
Authors: Petersen,; Wang,; Willems,

Skeletal dysplasias and the growth plate
pp. 24-30(7)
Author: Alman,

A life without pain? Hedonists take note
pp. 31-33(3)
Author: Young,

When adaptive processes go awry: gain-of-function in SCN9A
pp. 34-36(3)
Author: Young,

Two novel functional mutations in the Na⁺,K⁺-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes
pp. 37-43(7)
Authors: Castro,; Nunes,; de Vries,; Lemos,; Vanmolkot,; van den Heuvel,; Temudo,; Barros,; Sequeiros,; Frants,; Koenderink,; Pereira-Monteiro,; van den Maagdenberg,

Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
pp. 44-49(6)
Authors: Davidsson,; Collin,; Öreberg,; Gisselsson,

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA^Ser(UCN) in sensorineural hearing loss
pp. 50-54(5)
Authors: Labay,; Garrido,; Madeo,; Nance,; Friedman,; del Castillo,; Griffith,

Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ERβ) gene ESR2 are associated with venous ulceration
pp. 55-61(7)
Authors: Ashworth,; Smyth,; Pendleton,; Horan,; Payton,; Worthington,; Ollier,; Ashcroft,

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
pp. 62-70(9)
Authors: Schulz,; Albrecht,; Arici,; van der Burgt,; Buske,; Gillessen-Kaesbach,; Heller,; Horn,; Hübner,; Korenke,; König,; Kress,; Krüger,; Meinecke,; Mücke,; Plecko,; Rossier,; Schinzel,; Schulze,; Seemanova,; Seidel,; Spranger,; Tuysuz,; Uhrig,; Wieczorek,; Kutsche,; Zenker,

Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy - study in a genetically homogeneous population
pp. 71-78(8)
Authors: Kontaraki,; Parthenakis,; Patrianakos,; Karalis,; Vardas,

Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
pp. 79-84(6)
Authors: Eggermann,; Schönherr,; Buiting,; Ranke,; Wollmann,; Binder,

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma
pp. 85-88(4)

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene
pp. 89-91(3)

Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia
pp. 92-93(2)

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
pp. 94-96(3)

A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype
pp. 97-101(5)