SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Author:

Garshasbi Masoud,Motazacker Mohammad Mahdi,Kahrizi Kimia,Behjati Farkhondeh,Abedini Seyedeh Sedigheh,Nieh Sahar Esmaeeli,Firouzabadi Saghar Ghasemi,Becker Christian,Rüschendorf Franz,Nürnberg Peter,Tzschach Andreas,Vazifehmand Reza,Erdogan Fikret,Ullmann Reinhard,Lenzner Steffen,Kuss Andreas W.,Ropers H. Hilger,Najmabadi Hossein

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference25 articles.

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2. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2001) GRR: graphical representation of relationship errors. Bioinformatics 17:742–743

3. Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R (2005) CGHPRO—a comprehensive data analysis tool for array CGH. BMC Bioinform 6:85

4. CHORI (2005) Children’s Hospital Oakland Research Institute, Oakland, California, USA. Homepage of the BACPAC Resources Center (BPRC): http://bacpac.chori.org

5. De Vries, Pfundt R, Leisink M, Koolen DA, Vissers LELM, De Leeuw N, Smeets D, Sistermans E, Geurts van Kessel A, Schoemakers EFPM, Brunner HG, Veltman JA (2005) Identification of submicroscopic DNA alterations in mental retardation using whole genome tiling-resolution array CGH. Eur J Hum Genet 13(suppl 1):69

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