1. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

   • Tomotsugu Yasuda
   • Naoki Yamaguchi
   • Takeyori Saheki

   Original Investigations Pages: 537 - 545

2. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

   • Anne Romstad
   • H. Serap Kalkanoğlu
   • Flemming Güttler

   Original Investigations Pages: 546 - 553

3. Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy

   • Claudia Helmken
   • Brunhilde Wirth

   Original Investigations Pages: 554 - 558

4. Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population

   • Roberto Colombo
   • Angelo A. Bignamini
   • Tatsushi Toda

   Original Investigations Pages: 559 - 567

5. Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

   • Alessandra Tessitore
   • Guglielmo R. D. Villani
   • Paola Di Natale

   Original Investigations Pages: 568 - 576

6. Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene

   • Laura Lee
   • Jennifer Dowhanick-Morrissette
   • Ian D. Krantz

   Original Investigations Pages: 577 - 581

7. Y chromosome haplotypes reveal prehistorical migrations to the Himalayas

   • Bing Su
   • Chunjie Xiao
   • Li Jin

   Original Investigations Pages: 582 - 590

8. Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma

   • Elizabeth C. Winchester
   • Iona Y. Millwood
   • Anna M. Kessling

   Original Investigations Pages: 591 - 596

9. Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

   • Christina Chakarova
   • Manfred S. Wehnert
   • Dieter O. Fürst

   Original Investigations Pages: 597 - 611

10. Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda

    • L. Christiansen
    • A. Bygum
    • N. E. Petersen

    Original Investigations Pages: 612 - 614

11. Multilocus genetic analysis of single interphase cells by spectral imaging

    • J. Fung
    • H. -U. G. Weier
    • R. A. Pedersen

    Original Investigations Pages: 615 - 622

12. Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

    • George S. Charames
    • Anna L. Millar
    • Bharati Bapat

    Original Investigations Pages: 623 - 629

13. High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews

    • Almut Nebel
    • Dvora Filon
    • Mark G. Thomas

    Original Investigations Pages: 630 - 641

14. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

    • Gaëlle Pennarun
    • Catherine Chapelin
    • Bénédicte Duriez

    Original Investigations Pages: 642 - 649

15. Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination

    • Han N. Lim
    • Gary D. Berkovitz
    • J. Ross Hawkins

    Original Investigations Pages: 650 - 652