SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
- 26 November 2005
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 118 (6), 708-715
- https://doi.org/10.1007/s00439-005-0104-y
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardationNeurology, 2004
- Microcephalin Is a DNA Damage Response Protein Involved in Regulation of CHK1 and BRCA1Published by Elsevier ,2004
- Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide ArrayGenome Research, 2004
- Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental RetardationScience, 2002
- Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human BrainAmerican Journal of Human Genetics, 2002
- Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive ConditionAmerican Journal of Human Genetics, 2002
- The epidemiology of mental retardation: Challenges and opportunities in the new millenniumMental Retardation and Developmental Disabilities Research Reviews, 2002
- GRR: graphical representation of relationship errorsBioinformatics, 2001
- A Bacterial Artificial Chromosome Library for Sequencing the Complete Human GenomeGenome Research, 2001
- Parametric and nonparametric linkage analysis: a unified multipoint approach.1996