Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations Kim CrynsMarkus PfisterGuy Camp Original Investigation 09 April 2002 Pages: 389 - 394
Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing Jonathan D. GruberPeter B. ColliganJohanna K. Wolford Original Investigation 09 April 2002 Pages: 395 - 401
Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA Safarina MalikHerawati SudoyoSangkot Marzuki Original Investigation 04 April 2002 Pages: 402 - 411
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat Susan MoffettJeremy MartinsonRobert E. Ferrell Original Investigation 04 April 2002 Pages: 412 - 417
Analysis of 22 deletion breakpoints in dystrophin intron 49 Carlo NobileLuisa ToffolattiGian Danieli Original Investigation 09 April 2002 Pages: 418 - 421
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects June M. de la CruzRichard N. BamfordMaximilian Muenke Original Investigation 10 April 2002 Pages: 422 - 428
Identification of additional transcripts in the Williams-Beuren syndrome critical region Giuseppe MerlaCatherine UclaAlexandre Reymond Original Investigation 28 March 2002 Pages: 429 - 438
FISH-mapping of a 100-kb terminal 22q13 deletion Britt-Marie AnderlidJacqueline SchoumansMagnus Nordenskjöld Original Investigation 04 April 2002 Pages: 439 - 443
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4 Marie StasiaPierre BordigoniFrançoise Morel Original Investigation 09 April 2002 Pages: 444 - 450
Transmission disequilibrium test with discordant sib pairs when parents are available Hong-Wen DengWei-Min ChenRobert R. Recker Original Investigation 22 March 2002 Pages: 451 - 461
Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia Jan FullertonPatricia PaprockiSusan Forrest Original Investigation 28 March 2002 Pages: 462 - 470
Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools Nadine NortonNigel M. WilliamsMichael C. O'Donovan Original Investigation 23 March 2002 Pages: 471 - 478
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion? Cyrille BarthélémyHélène de BaulnyAnne Lombès Original Investigation 11 April 2002 Pages: 479 - 487
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? Boris UtschKarl BeckerMichael Ludwig Original Investigation 04 April 2002 Pages: 488 - 494
RT-PCR splicing analysis of the NF1 open reading frame Susanne A. ThomsonMargaret R. Wallace Original Investigation 04 April 2002 Pages: 495 - 502
Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight Robert S. LindsaySayuko KobesRobert L. Hanson Original Investigation 11 April 2002 Pages: 503 - 509
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus David A. MackeyWai-Man ChanElizabeth C. Engle Short Report 23 March 2002 Pages: 510 - 512
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma Tin AungLouise OcakaShomi S. Bhattacharya Short Report 10 April 2002 Pages: 513 - 514
An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome Maxim I. LutskiyLauren N. JonesEileen Remold-O'Donnell Short Report 10 April 2002 Pages: 515 - 519
Robert J. Gorlin, M. Michael Cohen Jr, Raoul C.M. Hennekam (eds): Syndromes of the Head and Neck, 4th edition Judith Allanson Book Review 09 April 2002 Pages: 522 - 523
Felix Mitelman: Database of chromosome aberrations in cancer Oskar A. Haas Website Review 10 April 2002 Pages: 524 - 525
