Renpenning syndrome in a female
暂无分享,去创建一个
Lijia Huang | A. Lehman | A. Elliott | J. Mwenifumbo | W. Robinson | P. Eydoux | J. Friedman | M. V. Van Allen | S. Adam | C. du Souich | M. Peñaherrera | T. Nelson | Raymond Y Cho | Chieko Chijiwa | G. Yang
[1] J. Lupski,et al. Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern , 2016, Human mutation.
[2] Junhai Han,et al. X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs. , 2015, Human molecular genetics.
[3] M. Hřebíček,et al. Identification of novel informative loci for DNA-based X-inactivation analysis. , 2015, Blood cells, molecules & diseases.
[4] G. Thomsen,et al. The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling , 2014, Development.
[5] Z. Tümer,et al. Three new loci for determining x chromosome inactivation patterns. , 2011, The Journal of molecular diagnostics : JMD.
[6] J. Chelly,et al. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. , 2011, European journal of medical genetics.
[7] L. Hertz-Pannier,et al. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males , 2011, Clinical genetics.
[8] V. Kimonis,et al. Mutation in PQBP1 is associated with periventricular heterotopia , 2010, American journal of medical genetics. Part A.
[9] C. Romano,et al. Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon , 2010, Human mutation.
[10] R. Stevenson,et al. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene , 2006, Journal of Medical Genetics.
[11] L. Vallée,et al. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect , 2006, European Journal of Human Genetics.
[12] R. Stevenson,et al. Renpenning syndrome comes into focus , 2005, American journal of medical genetics. Part A.
[13] M. Fichera,et al. Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation , 2005, Clinical genetics.
[14] Matthias Platzer,et al. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. , 2004, American journal of human genetics.
[15] Steffen Lenzner,et al. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation , 2003, Nature Genetics.
[16] Carolyn J. Brown,et al. Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns , 2003, American journal of medical genetics. Part A.
[17] W. Robinson,et al. X‐chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case , 2003 .
[18] I. Kanazawa,et al. Interaction between Mutant Ataxin-1 and PQBP-1 Affects Transcription and Cell Death , 2002, Neuron.
[19] Carolyn J. Brown,et al. Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation , 2002, Human Genetics.
[20] A. Sharp,et al. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women , 2000, Human Genetics.
[21] R. Stevenson,et al. Renpenning syndrome maps to Xp11. , 1998, American journal of human genetics.
[22] H. Willard,et al. An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. , 1996, American journal of medical genetics.
[23] H. Zoghbi,et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. , 1992, American journal of human genetics.