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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. Autistic spectrum disorders (ASDs) are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute si...

    Authors: Xiu Xu, Qiong Xu, Ying Zhang, Xiaodi Zhang, Tianlin Cheng, Bingbing Wu, Yanhua Ding, Ping Lu, Jingjing Zheng, Min Zhang, Zilong Qiu and Xiang Yu

    Citation: BMC Medical Genetics 2012 13:75

    Content type: Case report

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  2. Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe pheno...

    Authors: Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung

    Citation: BMC Medical Genetics 2012 13:71

    Content type: Research article

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  3. Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isol...

    Authors: Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek and Anna Latos-Bieleńska

    Citation: BMC Medical Genetics 2012 13:4

    Content type: Case report

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  4. Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases ar...

    Authors: Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann and Vamsi K Mootha

    Citation: BMC Medical Genetics 2012 13:3

    Content type: Case report

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  5. The breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients.

    Authors: Roberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, Renata Pellegrino, Sylvia S Takeno, Nancy B Spinner, Laura K Conlin, Denise M Christofolini, Leslie D Kulikowski and Maria I Melaragno

    Citation: BMC Medical Genetics 2011 12:171

    Content type: Research article

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  6. Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Ge...

    Authors: Yue-Juan Xu, Jian Wang, Rang Xu, Peng-Jun Zhao, Xi-Ke Wang, Heng-Juan Sun, Li-Ming Bao, Jie Shen, Qi-Hua Fu, Fen Li and Kun Sun

    Citation: BMC Medical Genetics 2011 12:169

    Content type: Research article

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  7. The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the ...

    Authors: Jenny Z Wang, Mandeep S Deogan, Joshua R Lewis, Shelby Chew, Ben H Mullin, Tegan J McNab, Scott G Wilson, Evan Ingley and Richard L Prince

    Citation: BMC Medical Genetics 2011 12:165

    Content type: Research article

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  8. Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16...

    Authors: Chaowen Yu, Yuan Yang, Lin Zou, Zhangxue Hu, Jing Li, Yunqiang Liu, Yongxin Ma, Mingyi Ma, Dan Su and Sizhong Zhang

    Citation: BMC Medical Genetics 2011 12:164

    Content type: Research article

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  9. Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder chara...

    Authors: Ortrud K Steinlein, Eric Aichinger, Holger Trucks and Thomas Sander

    Citation: BMC Medical Genetics 2011 12:152

    Content type: Research article

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  10. Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, i...

    Authors: Zaida Garcia-Casado, Ignacio Romero, Antonio Fernandez-Serra, Luis Rubio, Francisco Llopis, Ana Garcia, Pilar Llombart and Jose A Lopez-Guerrero

    Citation: BMC Medical Genetics 2011 12:134

    Content type: Research article

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  11. MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene. Most MUTYH pathogenic variants are missense mutations, and un...

    Authors: Giovana T Torrezan, Felipe CC da Silva, Ana CV Krepischi, Érika MM Santos, Fábio de O Ferreira, Benedito M Rossi and Dirce M Carraro

    Citation: BMC Medical Genetics 2011 12:128

    Content type: Case report

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  12. Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an ...

    Authors: Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo and Giuseppe Novelli

    Citation: BMC Medical Genetics 2011 12:125

    Content type: Research article

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  13. Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and...

    Authors: Aimee L Fenwick, Sarah C Bowdin, Regan EM Klatt and Andrew OM Wilkie

    Citation: BMC Medical Genetics 2011 12:122

    Content type: Case report

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  14. Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report, here, the first tota...

    Authors: Danièle Muller, Etienne Rouleau, Inès Schultz, Sandrine Caputo, Cédrick Lefol, Ivan Bièche, Olivier Caron, Catherine Noguès, Jean Marc Limacher, Liliane Demange, Rosette Lidereau, Jean Pierre Fricker and Joseph Abecassis

    Citation: BMC Medical Genetics 2011 12:121

    Content type: Research article

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  15. Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influen...

    Authors: Sven Thoms, Sabine Grønborg, Jana Rabenau, Andreas Ohlenbusch, Hendrik Rosewich and Jutta Gärtner

    Citation: BMC Medical Genetics 2011 12:109

    Content type: Research article

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  16. Hearing loss is a clinically and genetically heterogeneous disorder. Mutations in the DFNB1 locus have been reported to be the most common cause of autosomal recessive non-syndromic hearing loss worldwide. Apart ...

    Authors: Faiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan, Ghada Bin-Khamis, Shelley Kennedy, Bashayer Al-Mubarak, Daniah Trabzuni, Rabab Allam, Abeer Al-Mostafa, Sameera Sogaty, Abdulmoneem H Al-Shaikh, Saeed S Bamukhayyar, Brian F Meyer and Mohammed Al-Owain

    Citation: BMC Medical Genetics 2011 12:91

    Content type: Research article

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  17. Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called m...

    Authors: Ivy Jennes, Danielle de Jong, Kirsten Mees, Pancras CW Hogendoorn, Karoly Szuhai and Wim Wuyts

    Citation: BMC Medical Genetics 2011 12:85

    Content type: Research article

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  18. Temporomandibular disorder (TMD) is a multifactorial syndrome related to a critical period of human life. TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism with coi...

    Authors: Angel Aneiros-Guerrero, Ana M Lendinez, Arturo R Palomares, Beatriz Perez-Nevot, Lidia Aguado, Alvaro Mayor-Olea, Maximiliano Ruiz-Galdon and Armando Reyes-Engel

    Citation: BMC Medical Genetics 2011 12:75

    Content type: Research article

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  19. Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (COMP). Only a small number of studies have documented the clinical phenotype and genetic basis ...

    Authors: Li Dai, Liang Xie, Yanping Wang, Meng Mao, Nana Li, Jun Zhu, Christopher Kim and Yawei Zhang

    Citation: BMC Medical Genetics 2011 12:72

    Content type: Case report

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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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