Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
暂无分享,去创建一个
S. Antonarakis | R. Lyle | S. Gagos | F. Béna | A. Toutain | J. Delabar | S. Lyonnet | I. Kennerknecht | P. Cornillet‐Lefèbvre | C. Gehrig | L. Taine | L. Colleaux | A. Bottani | A. Schinzel | P. Sinet | M. Doco‐Fenzy | J. Horst | S. Dahoun | J. Lespinasse | E. A. Yahya-Graison | G. Lopez | A. Pelet | N. Wakamatsu | M. Descartes | J. Franklin | L. Florentin-Arar | S. Kitsiou | M. Costantine
[1] J M Delabar,et al. Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. , 2007, American journal of human genetics.
[2] M. Delorenzi,et al. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. , 2007, American journal of human genetics.
[3] M. Pletnikov,et al. Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice. , 2007, Human molecular genetics.
[4] J. Delabar,et al. Developmental Defects in Trisomy 21 and Mouse Models , 2006, TheScientificWorldJournal.
[5] S. Mizuno,et al. Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome , 2006, American journal of medical genetics. Part A.
[6] Ingrid K. Glad,et al. CGH-Explorer: a program for analysis of array-CGH data , 2005, Bioinform..
[7] J. Horst,et al. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2‐q22.3 defined by FISH and molecular studies , 2004, American journal of medical genetics. Part A.
[8] Stylianos E. Antonarakis,et al. Chromosome 21 and Down syndrome: from genomics to pathophysiology , 2004, Nature Reviews Genetics.
[9] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[10] S. South,et al. Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. , 2004, Genome research.
[11] S. Antonarakis,et al. Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. , 2004, Genome research.
[12] M Bobrow,et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.
[13] R. Reeves,et al. Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. , 2003, Human molecular genetics.
[14] James M. Eldred,et al. The DNA sequence of human chromosome 7 , 2003, Nature.
[15] Jonathan Pevsner,et al. Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. , 2003, Genomics.
[16] N. Carter,et al. DNA microarrays for comparative genomic hybridization based on DOP‐PCR amplification of BAC and PAC clones , 2003, Genes, chromosomes & cancer.
[17] L. Nadel,et al. The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. , 2003, Child development.
[18] N. Hastie,et al. Transcriptome analysis of human autosomal trisomy. , 2002, Human molecular genetics.
[19] W. J. Kent,et al. BLAT--the BLAST-like alignment tool. , 2002, Genome research.
[20] E. Zackai,et al. Down syndrome congenital heart disease: A narrowed region and a candidate gene , 2001, Genetics in Medicine.
[21] X. Estivill,et al. The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. , 2000, Genome research.
[22] Shinsei Minoshima,et al. Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319)) , 2000 .
[23] M. Hattori,et al. The DNA sequence of human chromosome 21 , 2000, Nature.
[24] G. Marfany,et al. Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR , 1999, Journal of medical genetics.
[25] C. Torfs,et al. Anomalies in Down syndrome individuals in a large population-based registry. , 1998, American journal of medical genetics.
[26] C. Epstein,et al. Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[27] A. Mégarbané,et al. High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. , 1997, Genomics.
[28] B. Birren,et al. Construction and characterization of a human bacterial artificial chromosome library. , 1996, Genomics.
[29] J. Tolmie,et al. Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment , 1996, Clinical genetics.
[30] C. Cole,et al. Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22. , 1995, American journal of medical genetics.
[31] R. Bronson,et al. A mouse model for Down syndrome exhibits learning and behaviour deficits , 1995, Nature Genetics.
[32] J. Huret,et al. Monosomy 21q: two cases of del(21q) and review of the literature , 1995, Clinical genetics.
[33] B. Delobel,et al. Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. , 1995, American journal of human genetics.
[34] S. Antonarakis,et al. "Compensatory" uniparental disomy of chromosome 21 in two cases. , 1994, Journal of medical genetics.
[35] C. Disteche,et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[36] C. Disteche,et al. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. , 1992, American journal of human genetics.
[37] F. Apiou,et al. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21 , 1991, Human Genetics.
[38] B. Craig,et al. CONGENITAL HEART DISEASE IN DOWNʼS SYNDROME: TWO-YEAR PROSPECTIVE EARLY SCREENING STUDY , 1991 .
[39] E. Courchesne,et al. Protocols to establish genotype-phenotype correlations in Down syndrome. , 1991, American journal of human genetics.
[40] D. Cox,et al. Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion , 1991, Human Genetics.
[41] S. Pulst,et al. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. , 1990, American journal of human genetics.
[42] A. Aurias,et al. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[43] L. Tranebjaerg,et al. A case of partial monosomy 21q22.2 associated with Rieger's syndrome. , 1984, Journal of medical genetics.
[44] Yoshifumi Yamamoto,et al. A case of 21q-syndrome with normal SOD-1 activity , 1979, Human Genetics.
[45] B. Dutrillaux,et al. [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)]. , 1976, Annales de genetique.
[46] J. Jackson,et al. Clinical diagnosis of Down's syndrome , 1976, Clinical genetics.
[47] M. Mikkelsen,et al. Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I , 1974, Journal of medical genetics.
[48] B. Dutrillaux,et al. [Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21]. , 1973, Annales de genetique.
[49] J. Delabar,et al. Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level. , 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.
[50] J. Delabar,et al. Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21 , 1993, European journal of human genetics : EJHG.
[51] M. K. McCormick. Molecular genetic approach to the characterization of the ‘Down syndrome region’ of chromosome 21 , 1989 .
[52] J. McPherson,et al. A Chromosome 21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes , 2022 .