Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations De-Ann M. PillersK.M. FitzgeraldR.G. Weleber Original Investigation 21 July 1999 Pages: 2 - 9
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C Toshiyuki YamamotoEiji NanbaKousaku Ohno Original Investigation 08 July 1999 Pages: 10 - 16
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma F. von DeimlingJ.M. ScharfB. Wirth Original Investigation 28 June 1999 Pages: 17 - 27
BRCA1 mutations in African Americans R.C.K. PanguluriL.C. BrodyG.M. Dunston Original Investigation 28 June 1999 Pages: 28 - 31
A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers S.E. PodusloX. YinJ. Schwankhaus Original Investigation 17 July 1999 Pages: 32 - 37
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype M.A. MaxwellP.V. NelsonD.I. Crane Original Investigation 02 July 1999 Pages: 38 - 44
Mutation analysis of hereditary multiple exostoses in the Chinese L. XuJ. XiaH.-X. Deng Original Investigation 28 June 1999 Pages: 45 - 50
Transcript identification on the CLN5 region on chromosome 13q22 T. KlockarsV. HolmbergL. Peltonen Original Investigation 28 June 1999 Pages: 51 - 56
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus I. ZitoD.L. ThiseltonA.J. Hardcastle Original Investigation 21 July 1999 Pages: 57 - 62
Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations H. MehdiC.E. AstonM.I. Kamboh Original Investigation 28 June 1999 Pages: 63 - 71
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC E. GrossN. ArnoldM. Kiechle Original Investigation 15 July 1999 Pages: 72 - 78
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer Q. WangC. LassetA. Puisieux Original Investigation 22 July 1999 Pages: 79 - 85
FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes J. YeshayaR. ShalgiL. Avivi Original Investigation 14 April 2014 Pages: 86 - 97
The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene S. NicoleP.S. WhiteB. Fontaine Original Investigation 28 June 1999 Pages: 98 - 103
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes M. SmithS. HerrellT. Strachan Original Investigation 08 July 1999 Pages: 104 - 111
A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution M.N. HelwaniM. SeoudR. Slim Original Investigation 01 July 1999 Pages: 112 - 115
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset M. WichersW. KöhlerM. Ludwig Original Investigation 01 July 1999 Pages: 116 - 119
Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation H. IdaO.M. RennertY. Eto Original Investigation 01 July 1999 Pages: 120 - 126
A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome P. LertritA. ImsumranN. Neungton Original Investigation 19 July 1999 Pages: 127 - 131
Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines P.R. PrinceC.E. OgburnR.J. Monnat Jr Original Investigation 28 June 1999 Pages: 132 - 138
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 C. SettasatianS.A. WhitmoreD.F. Callen Original Investigation 01 July 1999 Pages: 139 - 144
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone M.-C. RomeyC. GuittardM. Claustres Original Investigation 28 June 1999 Pages: 145 - 150
The frequency of lysosomal storage diseases in The Netherlands B.J.H.M. PoorthuisR.A. WeversO.P. van Diggelen Original Investigation 14 April 2014 Pages: 151 - 156
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency F.M. VazH.R. ScholteR.J.A. Wanders Original Investigation 08 July 1999 Pages: 157 - 161
Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells A. MontpetitD. Sinnett Short Report 21 July 1999 Pages: 162 - 164
CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia M. GennarelliM. PavoniG. Novelli Short Report 01 July 1999 Pages: 165 - 167
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin Vanita BerryDonna MackayShomi S. Bhattacharya Short Report 01 July 1999 Pages: 168 - 170
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 S.A.M. ThomsonS.A. RasmussenM.R. Wallace Short Report 28 June 1999 Pages: 171 - 173
The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA) R.A. PhilibertS.L. WinfieldE.I. Ginns Short Report 08 July 1999 Pages: 174 - 178
Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects R. MalinV. RantalaihoT. Lehtimäki Short Report 14 April 2014 Pages: 179 - 180
Chromosome 9qh inversions may not be true inversions Horacio RiveraMelva Gutiérrez-AnguloJuan Ramón González-Garcia Letter to the Editor 01 July 1999 Pages: 181 - 182
A reply: pericentric inversion of chromosome 9qh are “real” but the mechanisms of their origin are highly complex Ram S. Verma Letter to the Editor 01 July 1999 Pages: 183 - 184