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Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

Page 12 of 12

  1. Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function. During chromosome analysis, we i...

    Authors: Hsiao-Mei Liao, Jye-Siung Fang, Yann-Jang Chen, Kuang-Lun Wu, Kuei-Fang Lee and Chia-Hsiang Chen

    Citation: BMC Medical Genetics 2011 12:70

    Content type: Research article

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  2. Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have bee...

    Authors: Jing-Bin Yan, Miao Xu, Can Xiong, Da-Wen Zhou, Zhao-Rui Ren, Ying Huang, Monique Mommersteeg, Rinie van Beuningen, Ying-Tai Wang, Shi-Xiu Liao, Fanyi Zeng, Ying Wu and Yi-Tao Zeng

    Citation: BMC Medical Genetics 2011 12:68

    Content type: Technical advance

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  3. 22q11.2 microdeletion is responsible for the DiGeorge Syndrome, characterized by heart defects, psychiatric disorders, endocrine and immune alterations and a 1 in 4000 live birth prevalence. Real-time quantita...

    Authors: Marcello Frigerio, Elena Passeri, Tiziana de Filippis, Daniela Rusconi, Rea Valaperta, Mario Carminati, Anita Donnangelo, Elena Costa, Luca Persani, Palma Finelli and Sabrina Corbetta

    Citation: BMC Medical Genetics 2011 12:61

    Content type: Technical advance

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  4. Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we hav...

    Authors: Gaël Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika and Christian P Hamel

    Citation: BMC Medical Genetics 2011 12:54

    Content type: Research article

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  5. The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding o...

    Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C Markello, William A Gahl, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    Citation: BMC Medical Genetics 2011 12:46

    Content type: Research article

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  6. Copy number variations (CNVs) can contribute to variable degrees of fitness and/or disease predisposition. Recent studies show that at least 1% of any given genome is copy number variable when compared to the ...

    Authors: Mohammad M Ghahramani Seno, Benjamin YM Kwan, Ka Ki M Lee-Ng, Rainald Moessner, Anath C Lionel, Christian R Marshall and Stephen W Scherer

    Citation: BMC Medical Genetics 2011 12:45

    Content type: Research article

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  7. The use of dried blood spots (DBS) samples in genomic workup has been limited by the relative low amounts of genomic DNA (gDNA) they contain. It remains to be proven that whole genome amplified DNA (wgaDNA) fr...

    Authors: Bo G Winkel, Mads V Hollegaard, Morten S Olesen, Jesper H Svendsen, Stig Haunsø, David M Hougaard and Jacob Tfelt-Hansen

    Citation: BMC Medical Genetics 2011 12:22

    Content type: Technical advance

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  8. Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The genetic predisposition for PJS has be...

    Authors: Janos Papp, Marietta Eva Kovacs, Szilvia Solyom, Miklos Kasler, Anne-Lise Børresen-Dale and Edith Olah

    Citation: BMC Medical Genetics 2010 11:169

    Content type: Research article

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  9. A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromoso...

    Authors: Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, Jozef Gecz, Shane R Durkin, Jamie E Craig and Kathryn P Burdon

    Citation: BMC Medical Genetics 2010 11:165

    Content type: Research article

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