DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications^†

• Pages: 1-8
• First Published: 27 May 2004

Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse^†

• Pages: 9-13
• First Published: 27 May 2004

Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia^†

• Pages: 14-20
• First Published: 27 May 2004

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma^†

• Pages: 21-34
• First Published: 27 May 2004

Functional analysis of polymorphisms in the promoter regions of genes on 22q11^†‡

• Pages: 35-42
• First Published: 27 May 2004

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations^†

• Pages: 43-51
• First Published: 02 June 2004

Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?^†

• Pages: 52-62
• First Published: 27 May 2004

Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors^†‡

• Pages: 63-75
• First Published: 28 May 2004

Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray^†

• Pages: 76-85
• First Published: 02 June 2004

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses^†

• Pages: 86-92
• First Published: 02 June 2004

RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysis^†

• Pages: 93-99
• First Published: 02 June 2004

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy^†

• Pages: 100-101
• First Published: 27 May 2004

• Page: 102
• First Published: 27 May 2004

Novel MC1R variants in Ligurian melanoma patients and controls^†‡

• Page: 103
• First Published: 04 June 2004

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families^†

• Page: 103
• First Published: 04 June 2004

TBX5 mutations in Non-Holt-Oram Syndrome (HOS) malformed hearts^†‡

• Page: 104
• First Published: 04 June 2004

A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes^†‡

• Page: 104
• First Published: 04 June 2004

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate^†‡

• Pages: 104-105
• First Published: 04 June 2004

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1^†‡

• Page: 105
• First Published: 04 June 2004