Novel microdeletion syndromes detected by chromosome microarrays
暂无分享,去创建一个
[1] Yu Wang,et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures , 2008, Nature Genetics.
[2] K. Doheny,et al. 3q29 interstitial microduplication: A new syndrome in a three‐generation family , 2008, American journal of medical genetics. Part A.
[3] E. Eichler,et al. A hot spot of genetic instability in autism. , 2008, The New England journal of medicine.
[4] Joshua M. Korn,et al. Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.
[5] D. Conrad,et al. Recurrent 16p11.2 microdeletions in autism. , 2007, Human molecular genetics.
[6] L. Shaffer,et al. The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.
[7] H. Mefford,et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. , 2007, American journal of human genetics.
[8] K. Gunderson,et al. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization , 2007, Clinical genetics.
[9] T. de Ravel,et al. The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15 , 2007, Journal of Medical Genetics.
[10] D. Horn,et al. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH , 2007, European Journal of Pediatrics.
[11] N. de Leeuw,et al. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis , 2007, Journal of Medical Genetics.
[12] U. Surti,et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 , 2007, Nature Genetics.
[13] T. Shaikh. Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies , 2007, Genetics in Medicine.
[14] A. Cherry,et al. Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs , 2007, Genetics in Medicine.
[15] Bassem A Bejjani,et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome , 2007, Genetics in Medicine.
[16] Z. Ou,et al. A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome‐wide array‐CGH , 2007, American journal of medical genetics. Part A.
[17] M. Bamshad,et al. Multigene deletions on chromosome 20q13.13‐q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay , 2007, Human mutation.
[18] S. Rezkalla,et al. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation , 2007, American journal of medical genetics. Part A.
[19] M. Schwartz,et al. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. , 2007, European journal of medical genetics.
[20] Pawel Stankiewicz,et al. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. , 2007, Current opinion in genetics & development.
[21] B. D. de Vries,et al. Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics. , 2007, The Journal of molecular diagnostics : JMD.
[22] B. D. de Vries,et al. Characterization of a recurrent 15q24 microdeletion syndrome. , 2007, Human molecular genetics.
[23] P. Byers,et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. , 2006, The New England journal of medicine.
[24] Bassem A Bejjani,et al. Application of array-based comparative genomic hybridization to clinical diagnostics. , 2006, The Journal of molecular diagnostics : JMD.
[25] B. D. de Vries,et al. Diagnostic genome profiling: unbiased whole genome or targeted analysis? , 2006, The Journal of molecular diagnostics : JMD.
[26] L. Shaffer,et al. Medical applications of array CGH and the transformation of clinical cytogenetics , 2006, Cytogenetic and Genome Research.
[27] E. Mickelson,et al. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 , 2006, Journal of Medical Genetics.
[28] Andrew J Sharp,et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.
[29] Andrew J Lees,et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability , 2006, Nature Genetics.
[30] R. Pfundt,et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.
[31] G. Shaw,et al. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2 , 2006, European Journal of Human Genetics.
[32] George H. Thomas,et al. Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor , 2006 .
[33] H. Hoyme,et al. Nablus mask‐like facial syndrome is caused by a microdeletion of 8q detected by array‐based comparative genomic hybridization , 2006, American journal of medical genetics. Part A.
[34] R. Redon,et al. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome , 2006, European Journal of Human Genetics.
[35] C. Rosenberg,et al. A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient , 2006, Cytogenetic and Genome Research.
[36] G Mortier,et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports , 2006, Journal of Medical Genetics.
[37] B. Neubauer,et al. P50 sensory gating deficit in children with centrotemporal spikes and sharp waves in the EEG , 2006, Neuroscience Letters.
[38] D. Ledbetter,et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities , 2005, Journal of Medical Genetics.
[39] A. Cherry,et al. A report of three patients with an interstitial deletion of chromosome 15q24 , 2005, American journal of medical genetics. Part A.
[40] A J Lees,et al. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration , 2005, Journal of Medical Genetics.
[41] S. Kreiborg,et al. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome , 2005, American journal of medical genetics. Part A.
[42] H. Stefánsson,et al. A common inversion under selection in Europeans , 2005, Nature Genetics.
[43] C. Tabin,et al. Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand , 2004, Development.
[44] J M Freeman,et al. Practice parameter: evaluation of the child with global developmental delay. , 2003, Neurology.
[45] C. Olivieri,et al. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome , 2003, European Journal of Pediatrics.
[46] C. Fuster,et al. Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations , 2002, Journal of medical genetics.
[47] M. Lathrop,et al. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22 , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[48] D. Curtis,et al. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13–14 , 2002, Epilepsy Research.
[49] M. Hutton. Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms , 2001, Neurology.
[50] N. Hirokawa,et al. Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice , 2000, Neuroscience Letters.
[51] D. J. Driscoll,et al. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. , 1999, American journal of human genetics.
[52] I. Järvelä,et al. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) , 1999, Human molecular genetics.
[53] Kenneth A. Jones,et al. GABAB receptors function as a heteromeric assembly of the subunits GABABR1 and GABABR2 , 1998, Nature.
[54] Ronald C. Petersen,et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.
[55] G. Spiridigliozzi,et al. Fryns syndrome survivors and neurologic outcome. , 1995, American journal of medical genetics.
[56] Smith Sa,et al. Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation , 1994 .
[57] I. Young,et al. Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation , 1994, Clinical dysmorphology.
[58] N. Hirokawa,et al. Altered microtubule organization in small-calibre axons of mice lacking tau protein , 1994, Nature.
[59] E. Jabs,et al. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene , 1988, Human Genetics.
[60] Shuwen Huang,et al. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH , 2008, European Journal of Human Genetics.
[61] P. Donahoe,et al. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome , 2006, American journal of medical genetics. Part A.
[62] B. Borowsky,et al. GABA(B) receptors function as a heteromeric assembly of the subunits GABA(B)R1 and GABA(B)R2. , 1998, Nature.