Genomic rearrangements in the BRCA1 and BRCA2 genes^†

• Pages: 415-422
• First Published: 20 April 2005

eOPA1: An online database for OPA1 mutations^†

• Pages: 423-428
• First Published: 20 April 2005

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature^†

• Pages: 429-434
• First Published: 20 April 2005

KinMutBase: A registry of disease-causing mutations in protein kinase domains^†

• Pages: 435-442
• First Published: 20 April 2005

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency^†

• Pages: 443-452
• First Published: 20 April 2005

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population^†

• Pages: 453-459
• First Published: 20 April 2005

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test^†

• Pages: 460-467
• First Published: 20 April 2005

A separation-free assay for the detection of mutations: Combination of homogeneous time-resolved fluorescence and minisequencing^†

• Pages: 468-475
• First Published: 20 April 2005

BAC-based PCR fragment microarray: High-resolution detection of chromosomal deletion and duplication breakpoints^†

• Pages: 476-482
• First Published: 20 April 2005

Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templates^†

• Pages: 483-490
• First Published: 20 April 2005

Characterization of iduronate-2-sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method^†

• Pages: 491-497
• First Published: 20 April 2005

Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer^†

• Pages: 498-500
• First Published: 20 April 2005

• Page: 501
• First Published: 20 April 2005

Identification of novel mutations in classical galactosemia^†‡

• Page: 502
• First Published: 20 April 2005

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita^†‡

• Page: 502
• First Published: 20 April 2005

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary^†‡

• Page: 503
• First Published: 20 April 2005

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss^†‡

• Page: 503
• First Published: 20 April 2005

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)^†‡

• Pages: 503-504
• First Published: 20 April 2005

Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene^†‡

• Page: 504
• First Published: 20 April 2005

A new insight into PMM2 mutations in the French population^{† ‡}

• Pages: 504-505
• First Published: 20 April 2005

Nephrogenic diabetes insipidus caused by mutation of Tyr205: A key residue of V2 vasopressin receptor function^{† ‡}

• Page: 505
• First Published: 20 April 2005

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)^†‡

• Page: 505
• First Published: 20 April 2005

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease^†‡

• Page: 506
• First Published: 20 April 2005

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations^†‡

• Page: 506
• First Published: 20 April 2005