Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability.
暂无分享,去创建一个
Chih-ping Chen | S. Chern | Shuan-Pei Lin | Peih-Shan Wu | Shin-Wen Chen | Chien-Wen Yang | Wayseen Wang | Y. Chen | Meng‐Shan Lee
[1] Anna Lindstrand,et al. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. , 2015, American journal of human genetics.
[2] Joshua L. Deignan,et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. , 2015, American journal of human genetics.
[3] R. Rector,et al. Identification of genes whose expression is altered by obesity throughout the arterial tree. , 2014, Physiological genomics.
[4] Stephan J Sanders,et al. High rate of disease-related copy number variations in childhood onset schizophrenia , 2013, Molecular Psychiatry.
[5] J. Vermeesch,et al. High-throughput sample identification and tracking for exome and custom targeted sequencing projects , 2013 .
[6] Chih-ping Chen,et al. Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasi , 2012, Taiwanese journal of obstetrics & gynecology.
[7] D. Steinemann,et al. Constitutional trisomy 8p11.21‐q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia , 2011, British journal of haematology.
[8] T. Liehr,et al. Characterization of sSMC by FISH and molecular techniques. , 2011, European journal of medical genetics.
[9] Chih-ping Chen,et al. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8. , 2010, Taiwanese journal of obstetrics & gynecology.
[10] Dongmei Li,et al. GPAT3 and GPAT4 are regulated by insulin-stimulated phosphorylation and play distinct roles in adipogenesis[S] , 2010, Journal of Lipid Research.
[11] T. Liehr. Small Supernumerary Marker Chromosomes (sSMCs): A Spotlight on Some Nomenclature Problems , 2009, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.
[12] T. Liehr,et al. Handling small supernumerary marker chromosomes in prenatal diagnostics , 2009, Expert review of molecular diagnostics.
[13] A. Dufke,et al. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. , 2008, International journal of molecular medicine.
[14] D. Ledbetter,et al. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. , 2008, American journal of human genetics.
[15] D. Ledbetter,et al. Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism , 2008, American journal of medical genetics. Part A.
[16] K. Clément,et al. Contribution of energy restriction and macronutrient composition to changes in adipose tissue gene expression during dietary weight-loss programs in obese women. , 2008, The Journal of clinical endocrinology and metabolism.
[17] T. Liehr. Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. , 2008, Methods in molecular biology.
[18] T. Liehr,et al. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. , 2007, International journal of molecular medicine.
[19] K. Mrasek,et al. Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines , 2006, Cytogenetic and Genome Research.
[20] S. Young,et al. Agpat6 deficiency causes subdermal lipodystrophy and resistance to obesitys⃞s⃞ The online version of this article (available at http://www.jlr.org) contains additional table and figure. Published, JLR Papers in Press, January 25, 2006. , 2006, Journal of Lipid Research.
[21] F. Chatonnet,et al. Cloning and analysis of Nkx6.3 during CNS and gastrointestinal development. , 2006, Gene expression patterns : GEP.
[22] T. Liehr,et al. Small supernumerary marker chromosomes (sSMC) in humans , 2004, Cytogenetic and Genome Research.
[23] J. Crolla,et al. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. , 1998, American journal of medical genetics.
[24] E. Zackai,et al. Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. , 1995, American journal of medical genetics.
[25] D. Warburton,et al. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.