Diagnostic genome profiling in mental retardation.
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Ton Feuth | Martijn A. R. Leisink | Erik A Sistermans | Han G Brunner | Nicole de Leeuw | Rolph Pfundt | Dominique Smeets | L. Vissers | R. Pfundt | B. D. de Vries | J. Veltman | H. Brunner | I. Janssen | A. V. van Kessel | C. V. van Ravenswaaij-Arts | D. Smeets | E. Sistermans | E. Schoenmakers | T. Feuth | W. Nillesen | E. Huys | D. Koolen | S. Reijmersdal | N. Leeuw | Bert B A de Vries | Ad Geurts van Kessel | Willy M Nillesen | Joris A Veltman | Eric F P M Schoenmakers | Lisenka E L M Vissers | Irene M Janssen | Erik H L P G Huys | Conny M A van Ravenswaaij-Arts | David A Koolen | Martijn Leisink | Simon van Reijmersdal | Erik Huys
[1] R. Shprintzen,et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus , 1992, The Lancet.
[2] B. D. de Vries,et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. , 2005, American journal of human genetics.
[3] Han G Brunner,et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome , 2004, Nature Genetics.
[4] 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.
[5] K. Frazer,et al. Common deletions and SNPs are in linkage disequilibrium in the human genome , 2006, Nature Genetics.
[6] Jamel Chelly,et al. Genetics and pathophysiology of mental retardation , 2006, European Journal of Human Genetics.
[7] J. Lejeune,et al. [Study of somatic chromosomes from 9 mongoloid children]. , 1959, Comptes rendus hebdomadaires des seances de l'Academie des sciences.
[8] Sarah Barber,et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. , 2006, American journal of human genetics.
[9] K. Gunderson,et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. , 2006, Genome research.
[10] L. D. White,et al. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders , 2004, Journal of Medical Genetics.
[11] Yang Li,et al. Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array , 2004, Human Genetics.
[12] B. Trask,et al. Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. , 1991, Trends in genetics : TIG.
[13] J. Lupski. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. , 1998, Trends in genetics : TIG.
[14] D. Ward,et al. Karyotyping human chromosomes by combinatorial multi-fluor FISH , 1996, Nature Genetics.
[15] Lawrence R. Rabiner,et al. A tutorial on hidden Markov models and selected applications in speech recognition , 1989, Proc. IEEE.
[16] P. D. de Jong,et al. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation , 2004, Journal of Medical Genetics.
[17] M. Sheldon,et al. The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia , 2002, Leukemia.
[18] J. Flint,et al. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation , 1995, Nature Genetics.
[19] J. Flint,et al. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. , 2003, Current opinion in genetics & development.
[20] Bba,et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene , 2005, Journal of Medical Genetics.
[21] D. Conrad,et al. A high-resolution survey of deletion polymorphism in the human genome , 2006, Nature Genetics.
[22] Bassem A Bejjani,et al. A cytogeneticist's perspective on genomic microarrays. , 2004, Human reproduction update.
[23] Jr. G. Forney,et al. The viterbi algorithm , 1973 .
[24] B. D. de Vries,et al. A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization , 2004, Clinical genetics.
[25] D. Pinkel,et al. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. , 2002, Human molecular genetics.
[26] J. Hamerton,et al. The Chromosomes of Man , 1956, Nature.
[27] L. Shaffer,et al. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion , 2000, Nature Genetics.
[28] C. E. Ford,et al. A colchicine, hypotonic citrate, squash sequence for mammalian chromosomes. , 1956, Stain technology.
[29] B. Ceulemans,et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation‐dependent probe amplification (MLPA) , 2004, Human mutation.
[30] Ton Feuth,et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. , 2003, American journal of human genetics.
[31] E. Eichler,et al. Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.
[32] D. Baralle. Chromosomal aberrations, subtelomeric defects, and mental retardation , 2001, The Lancet.
[33] Sarah Barber,et al. A set of BAC clones spanning the human genome. , 2004, Nucleic acids research.
[34] Keith W. Jones,et al. Whole genome DNA copy number changes identified by high density oligonucleotide arrays , 2004, Human Genomics.
[35] Naomichi Matsumoto,et al. BAC array CGH reveals genomic aberrations in idiopathic mental retardation , 2006, American journal of medical genetics. Part A.
[36] D. Ledbetter,et al. Is Angelman syndrome an alternate result of del(15)(q11q13)? , 1987, American journal of medical genetics.
[37] M. Pembrey,et al. Uniparental paternal disomy in Angelman's syndrome , 1991, The Lancet.
[38] T. Nettelbeck. Mental retardation: Definition, classification, and systems of support , 2003 .
[39] D. Ledbetter,et al. Clinical and molecular diagnosis of Miller-Dieker syndrome. , 1991, American journal of human genetics.
[40] D. Ledbetter,et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. , 1981, The New England journal of medicine.
[41] Jonathan Flint,et al. Subtle chromosomal rearrangements in children with unexplained mental retardation , 1999, The Lancet.
[42] Han G Brunner,et al. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. , 2002, American journal of human genetics.
[43] D. Zwijnenburg,et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.
[44] Juliane Hoyer,et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation , 2006, American journal of medical genetics. Part A.
[45] D. Smeets,et al. Historical prospective of human cytogenetics: from microscope to microarray. , 2004, Clinical biochemistry.
[46] P. Jacobs,et al. A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism , 1959, Nature.
[47] Robert Kincaid,et al. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[48] J. Opitz,et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. , 1986, American journal of medical genetics.
[49] Moncef Gabbouj,et al. Weighted median filters: a tutorial , 1996 .
[50] N. Carter,et al. Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. , 1992, Genomics.
[51] Andrew J Lees,et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability , 2006, Nature Genetics.
[52] S. Bryson,et al. Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. , 1987, American journal of mental retardation : AJMR.
[53] J. Zonana,et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. , 1990, American journal of medical genetics.
[54] H. Leonard,et al. The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.
[55] P. Marynen,et al. X chromosome array-CGH for the identification of novel X-linked mental retardation genes. , 2005, European journal of medical genetics.
[56] C. Ruivenkamp,et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) , 2005, Journal of Medical Genetics.
[57] S. Scherer,et al. Severe expressive-language delay related to duplication of the Williams-Beuren locus. , 2005, The New England journal of medicine.
[58] P. Stankiewicz,et al. Molecular-evolutionary mechanisms for genomic disorders. , 2002, Current opinion in genetics & development.
[59] E. Eichler,et al. Fine-scale structural variation of the human genome , 2005, Nature Genetics.
[60] Bradley P. Coe,et al. A tiling resolution DNA microarray with complete coverage of the human genome , 2004, Nature Genetics.
[61] Chad A Shaw,et al. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. , 2003, Human molecular genetics.
[62] R. Pfundt,et al. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation , 2006, Clinical dysmorphology.
[63] Amala Chaudhuri,et al. The chromosome number in man , 1963, Indian journal of pediatrics.
[64] Robert L. Schalock,et al. Mental Retardation: Definition, Classification, and Systems of Supports. 10th Edition. , 2002 .
[65] L. Biesecker. The end of the beginning of chromosome ends , 2002 .
[66] H. Ropers,et al. X-linked mental retardation , 2005, Nature Reviews Genetics.
[67] U. Suter,et al. Disease mechanisms in inherited neuropathies , 2003, Nature Reviews Neuroscience.
[68] R. Regan,et al. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay , 2001, European Journal of Human Genetics.
[69] U. Moog. The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes , 2005, American journal of medical genetics. Part A.
[70] Shigeru Chiba,et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. , 2005, Cancer research.
[71] E. Zackai,et al. Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome , 2004, American journal of medical genetics. Part A.
[72] Ajay N. Jain,et al. Assembly of microarrays for genome-wide measurement of DNA copy number , 2001, Nature Genetics.
[73] J. Mulvihill,et al. Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals , 2004, American journal of medical genetics. Part A.
[74] P. Thomas,et al. Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 , 2004, Journal of Medical Genetics.
[75] Thomas Liehr,et al. Rapid detection of subtelomeric deletion/duplication by novel real‐time quantitative PCR using SYBR‐green dye , 2004, Human mutation.
[76] R. Regan,et al. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist , 2001, Journal of medical genetics.
[77] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[78] J. Yunis. High resolution of human chromosomes. , 1976, Science.
[79] T. Richmond,et al. Analysis of chromosome breakpoints in neuroblastoma at sub‐kilobase resolution using fine‐tiling oligonucleotide array CGH , 2005, Genes, chromosomes & cancer.
[80] P. Marynen,et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map , 2004, Journal of Medical Genetics.
[81] B. D. de Vries,et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) , 2004, Journal of Medical Genetics.
[82] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[83] M Somerville,et al. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH , 2005, American journal of medical genetics. Part A.
[84] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[85] B. D. de Vries,et al. Telomeres: a diagnosis at the end of the chromosomes , 2003, Journal of medical genetics.
[86] W. Kuo,et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays , 1998, Nature Genetics.
[87] N. Hirokawa,et al. KIF5C, a Novel Neuronal Kinesin Enriched in Motor Neurons , 2000, The Journal of Neuroscience.
[88] S. Chin,et al. Human and mouse oligonucleotide-based array CGH , 2005, Nucleic acids research.
[89] Han G Brunner,et al. Identification of disease genes by whole genome CGH arrays. , 2005, Human molecular genetics.
[90] N. Carter,et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents , 2005, Journal of Medical Genetics.
[91] Thomas Ried,et al. Cytogenetics--in color and digitized. , 2004, The New England journal of medicine.
[92] A. Schinzel,et al. Catalogue of Unbalanced Chromosome Aberrations in Man , 1985 .
[93] E. Eichler,et al. BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications , 2004, Journal of Medical Genetics.
[94] H. Ropers,et al. BMC Genomics BioMed Central Research article Comparative study of methyl-CpG-binding domain proteins , 2003 .
[95] J. T. Lumeij,et al. Avian Clinical Biochemistry , 1997 .
[96] S. Inhorn,et al. Multiple congenital anomaly caused by an extra autosome. , 1960, Lancet.
[97] J. Dumanski,et al. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. , 1994, American journal of human genetics.
[98] Sander B Nabuurs,et al. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. , 2006, American journal of human genetics.
[99] J. Veltman,et al. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. , 2003, American journal of human genetics.
[100] B. D. de Vries,et al. Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? , 2001, Journal of medical genetics.
[101] T. Nagase,et al. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. , 2000, DNA research : an international journal for rapid publication of reports on genes and genomes.
[102] Ash A. Alizadeh,et al. Genome-wide analysis of DNA copy-number changes using cDNA microarrays , 1999, Nature Genetics.
[103] P. Decouflé,et al. Reported biomedical causes and associated medical conditions for mental retardation among 10‐year‐old children, metropolitan Atlanta, 1985 to 1987 , 1997, Developmental medicine and child neurology.
[104] D. Pinkel,et al. Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors , 2022 .
[105] 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.
[106] N. Niikawa,et al. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation , 2004, Journal of Medical Genetics.
[107] Ben A. Oostra,et al. Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey , 1997 .
[108] R. Ekong,et al. Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld‐Rieger syndrome patients defined on a purpose‐built genomic microarray , 2004, Human mutation.
[109] L. Shaffer,et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. , 2006, The Journal of pediatrics.
[110] Andrew J Sharp,et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.
[111] Rong Mao,et al. The use of genomic microarrays to study chromosomal abnormalities in mental retardation. , 2005, Mental retardation and developmental disabilities research reviews.
[112] J. Sebat,et al. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. , 2003, Genome research.
[113] E. Lindsay. Chromosomal microdeletions: dissecting del22q11 syndrome , 2001, Nature reviews genetics.
[114] N. Nomura,et al. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. , 1997, DNA research : an international journal for rapid publication of reports on genes and genomes.
[115] Nel Roeleveld,et al. The prevalence of mental retardation: a critical review of recent literature , 1997, Developmental medicine and child neurology.
[116] Robert Henke,et al. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. , 2005, American journal of human genetics.
[117] Pardis C Sabeti,et al. Common deletion polymorphisms in the human genome , 2006, Nature Genetics.
[118] 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.
[119] Bart De Moor,et al. Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis , 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.
[120] D Pinkel,et al. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. , 2001, Human molecular genetics.
[121] H. Döhner,et al. Matrix‐based comparative genomic hybridization: Biochips to screen for genomic imbalances , 1997, Genes, chromosomes & cancer.
[122] P. Tarpey,et al. The genetics of mental retardation. , 2006, Human molecular genetics.
[123] R. Pfundt,et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.
[124] C. E. Ford,et al. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). , 1959, Lancet.
[125] A. Cameron,et al. A new trisomic syndrome. , 1960, Lancet.
[126] R. Hennekam,et al. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. , 2006, American journal of human genetics.
[127] W. Sloos,et al. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations , 2006, Cytogenetic and Genome Research.
[128] Naomichi Matsumoto,et al. Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. , 2005, American journal of human genetics.