Clinical Genetics

Genetic Services
pp. 1-6(6)
Author: Donnai D.

HotSpots
pp. 7-12(6)
Author: Lewis M.S.

Standardization of PCR amplification for fragile X trinucleotide repeat measurements
pp. 13-20(8)
Authors: O'Connell C.; Atha D.; Jakupciak J.; Amos J.; Richie K.

A prospective evaluation of the angiotensin-converting enzyme D/I polymorphism and left ventricular remodeling in the ‘Healing and Early Afterload Reducing Therapy’ Study
pp. 21-25(5)
Authors: Zee R.; Solomon S.; Ajani U.; Pfeffer M.; Lindpaintner K.; for the Heart investigators

Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages
pp. 26-31(6)
Authors: Yakut S.; Berker-Karaüzüm S.; imek M.; Zorlu G.; Trak B.; Lüleci G.

The E326K mutation and Gaucher disease: mutation or polymorphism?
pp. 32-34(3)
Authors: Park J.; Tayebi N.; Stubblefield B.; LaMarca M.; MacKenzie J.; Stone D.; Sidransky E.

Fertility and pregnancy outcome in Danish women with Turner syndrome
pp. 35-39(5)
Authors: Birkebaek N.; Crüger D.; Hansen J.; Nielsen J.; Bruun-Petersen G.

A previously undescribed nonsense mutation of the HFE gene
pp. 40-42(3)
Authors: Beutler E.; Griffin M.; Gelbart T.; West C.

Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)
pp. 43-48(6)
Authors: Guix P.; Picornell A.; Parera M.; Galmes A.; Obrador A.; Ramon M.; Castro J.

Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males
pp. 49-53(5)
Authors: Khalifa M.; Struthers J.

Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome
pp. 54-61(8)
Authors: Kokalj Vokac N.; Seme Ciglenecki P.; Erjavec A.; Zagradisnik B.; Zagorac A.

Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies)
pp. 62-65(4)
Authors: Guc-Scekic M.; Milasin J.; Stevanovic M.; Stojanov L.; Djordjevic M.

Association of a polymorphism of the ecNOS gene with myocardial infarction in a subgroup of Turkish MI patients
pp. 66-70(5)
Authors: Çine N.; Hatemi A.; Erginel-Unaltuna N.

Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method
pp. 71-73(1)
Authors: Medlej-Hashim M.; Salem N.; Chouery E.; Rawashdeh M.; Delague V.; Haffar M.; Mansour I.; Naman R.; Lefranc G.; Loiselet J.; Mégarbané A.

Autosomal dominant isolated velopharyngeal insufficiency
pp. 74-76(5)
Authors: Vantrappen G.; Rommel N.; Wellens W.; Cremers C.; Fryns J-P.; Devriendt K.

A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27
pp. 77-78(2)
Authors: Toba H.; Fukuyama R.; Sasaki M.; Shiga K.; Ishibashi S.; Fushiki S.