The molecular genetics of growth hormone deficiency A. M. ProcterJohn A. Phillips III.David N. Cooper Review 17 February 2014 Pages: 255 - 272
A functional polymorphism in the monoamine oxidase A gene promoter S. Z. SabolStella HuD. Hamer Rapid Communication 17 February 2014 Pages: 273 - 279
Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia Denise L. GokselKathryn FischbachPeter O’Connell Rapid communication 17 February 2014 Pages: 280 - 285
A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities K. FujikiYoshihiro HottaAtsushi Kanai Rapid Communication 17 February 2014 Pages: 286 - 289
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome Toshio ItohT. TanakaYusuke Nakamura Original Investigation 17 February 2014 Pages: 290 - 294
The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type Q. HuWalter A. KukullSamir S. Deeb Original Investigation 17 February 2014 Pages: 295 - 303
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese H.-H. LeeHsiang-Tai ChaoBun-chu Chung Original Investigation 17 February 2014 Pages: 304 - 310
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome T. TvrdikSuzanne MarcusBo Lambert Original Investigation 17 February 2014 Pages: 311 - 318
Variability in the serotonin transporter gene and increased risk for major depression with melancholia Blanca GutiérrezLuis PintorL. Fañanás Original Investigation 17 February 2014 Pages: 319 - 322
Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD) Kazuhiro KobayashiYutaka NakahoriT. Toda Original Investigation 17 February 2014 Pages: 323 - 327
A novel locus for Leber congenital amaurosis on chromosome 14q24 David W. StocktonRichard Alan LewisJ. R. Lupski Original Investigation 17 February 2014 Pages: 328 - 333
New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families Nadège PresneauValérie Laplace-MariezeY.-J. Bignon Original Investigation 17 February 2014 Pages: 334 - 339
The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17 Fredrik C. AronssonPatrik MagnussonA. J. Brookes Original Investigation 17 February 2014 Pages: 340 - 345
Genetic structure of five susceptibility gene regions for coronary artery disease: disequilibria within and among regions K. E. ZerbaRobert E. FerrellCharles F. Sing Original Investigation 17 February 2014 Pages: 346 - 354
In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules Ming-Hui WeiIrina KaravanovaM. I. Lerman Original Investigation 17 February 2014 Pages: 355 - 364
Polymorphism in the FMR1 gene Chris GunterS. T. Warren Letter to the editor 17 February 2014 Pages: 365 - 365
Regarding the letter from Dr. Stephen T. Warren of the Emory University School of Medicine concerning our article “Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations” Karen GrønskovK. Brøndum-Nielsen Letter to the editor 17 February 2014 Pages: 366 - 366
Chromosomal instability in cancer patients D. TonchevaM. Nacheva Letter to the editor 17 February 2014 Pages: 367 - 369
Comments on the letter of Toncheva and Nacheva concerning our paper “Latent chromosomal instability in cancer patients” D. KomitowskiM. Tzancheva Letter to the editor 17 February 2014 Pages: 370 - 371
ICRF handbook of genome analysis: Nigel K. Spurr, Bryan D. Young, Stephen P. Bryant (Editors) Meena Upadhyaya Book Review 17 February 2014 Pages: 372 - 373