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Akrami SM, Rowland JS, Taylor GR, Armour JA „Diagnosis of gene dosage alterations at the PMP22 gene using MAPH“ J Med Genet 2003 40: 123-127

Albertson DG, Ylstra B, Segraves R, Collins C, Dairkee SH, Kowbel D, Kuo WL, Gray JW, Pinkel D „Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene“ Nat Genet 2000 25: 144-146

Albertson DG, Pinkel D „Genomic microarrays in human genetic disease and cancer“ Hum Mol Genet 2003 12: R145-R152

Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA „PAK3 mutation in nonsyndromic X-linked mental retardation“ Nat Genet 1998 20: 25-30

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY „Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2“

Nat Genet 1999 23: 185-188

Anderlid BM, Schoumans J, Annerén G, Sahlén S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjöld M „Subtelomeric rearrangements detected in patients with idiopathic mental retardation“ Am J Med Genet 2002 107: 275-284

Armour JAL, Sismani C, Patsalis PC, Cross G „Measurement of locus copy number by hybridisation with amplifiable probes“ Nucleic Acids Res 2000 28: 605-609

Baralle D „Chromosomal aberrations, subtelomeric defects and mental retardation“ Lancet 2001 358: 7-8

Bardoni B, Mandel JL, Fisch GS „FMR1 gene and fragile X syndrome“ Am J Med Genet 2000 97: 153-163

Barnes AP, Milgram SL „Signals from the X: signal transduction and X-linked mental retardation“ Int J Dev Neurosci 2002 20: 397-406

Battaglia A, Bianchini E, Carey JC „Diagnostic yield of the comprehensive assesment of developmental delay/mental retardation in an institute of child neuropsychiatry“ Am J Med Genet 1999 82: 60-66

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J „ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation“ Hum Mol Genet 2002 11:

981-991

Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR, Futreal PA, Weber B, Shapero MH, Wooster R „High-resolution analysis of DNA copy number using oligonucleotide microarrays“ Genome Res 2004 14: 287-295

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J „Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation“ Nature 1998 392: 923-926

Bliss TV, Collingridge GL „A synaptic model of memory: long-term potentiation in the hippocampus“ Nature 1993 361: 31-39

Branchi I, Bichler Z, Berger-Sweeney J, Ricceri L „Animal models of mental retardation:

from gene to cognitive function“ Neurosci Biobehav Rev 2003 27: 141-53

Bruder CEG, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlen S, Blennow E, Albertson DG, Pinkel D, Dumanski JP „High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH“ Hum Mol Genet 2001 10: 271-282

Buckley PG, Mantripragada KK, Benetkiewicz M, Tapia-Paez I, Diaz De Stahl T, Rosenquist M, Ali H, Jarbo C, De Bustos C, Hirvela C, Sinder Wilen B, Fransson I, Thyr C, Johnsson BI, Bruder CE, Menzel U, Hergersberg M, Mandahl N, Blennow E, Wedell A, Beare DM, Collins JE, Dunham I, Albertson D, Pinkel D, Bastian BC, Faruqi AF, Lasken RS, Ichimura K, Collins VP, Dumanski JP „A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications“

Hum Mol Genet 2002 11: 3221-3229

Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J „A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation“ Nat Genet 1999 23: 25-31

Carter NP, Ferguson-Smith MA, Perryman MT, Telenius H, Pelmear AH, Leversha MA, Glancy MT, Wood SL, Cook K, Dyson HM, et al. „Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics“ J Med Genet 1992 29: 299-307

Caspersson T, Zech L, Johansson C „Differential binding of alkylating fluorochromes in human chromosomes“ Exp Cell Res 1970 60: 315-19

Chelly J „Breakthroughs in molecular and cellular mechanism underlying X-linked mental retardation“ Hum Mol Genet 1999 8: 1833-1838

Chelly J, Mandel JL „Monogenic causes of X-linked mental retardation” Nat Rev Genet 2001 2: 669-680

Cheung VG, Morley M, Aguilar F, Massimi A, Kucherlapati R, Childs G „Making and reading microarrays“ Nat Genet 1999 21: 15-19

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andres C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B „MECP2 is highly mutated in X-linked mental retardation“ Hum Mol Genet 2001 10: 941-946

D`Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D

„Mutations in GDI1 are responsible for X-linked non-specific mental retardation“ Nat Genet 1998 19: 134-139

Daigo Y, Chin SF, Gorringe KL, Bobrow LG, Ponder BA, Pharoah PD, Caldas C

„Degenerate oligonucleotide primed-polymerase chain reaction-based array comparative genomic hybridization for extensive amplicon profiling of breast cancers“ Am J Pathol 2001 158: 1623-1631

Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J, Driscoll M, Song W, Kingsmore SF, Egholm M, Lasken RS „Comprehensive human genome amplification using multiple displacement amplification“ Proc Natl Acad Sci 2002 99: 5261-5266

Diehl F, Beckmann B, Kellner N, Hauser NC, Diehl S, Hoheisel JD „Manufacturing DNA microarrays from unpurified PCR products“ Nucleic Acids Res 2002 30: e79

Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al „The DNA sequence of human chromosome 22“ Nature 1999 402: 489-495

Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH „A new trisomic syndrome“

Lancet 1960 i: 787-790

Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP „DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones“ Genes Chromosomes Cancer 2003a 36: 361-374

Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S, Crolla JA, Dennis NR, Jacobs P, Carter NP „Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays“ J Med Genet. 2003b 40: 664-670 Florijn RJ, Bonden LA, Vrolijk H, Wiegant J, Vaandrager JW, Baas F, den Dunnen JT, Tanke

HJ, van Ommen GJ, Raap AK „High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes“ Hum Mol Genet 1995 5: 831-836 Ford CE, Jones KW, Polani PE, de Almeida JC Briggs JH „A sex-chromosome anomaly in a

case of gonadal dysgenesis (Turner's syndrome)“ Lancet 1959 1: 711-713

Freude K, Hoffmann K, Jensen LR, Delatycki MB, Des Portes V, Moser B, Hamel B, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH „Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine-Binding Protein Cause Nonsyndromic X-Linked Mental Retardation“ Am J Hum Genet 2004 75: 305-309

Frints SGM, Froyen G, Marynen P, Fryns JP „X-linked mental retardation: vanishing boundaries between nonspcific (MRX) and syndromic (MRXS) forms“ Clin Genet 2002 62: 423-432

Fritz B, Schubert F, Wrobel G, Schwaenen C, Wessendorf S, Nessling M, Korz C, Rieker RJ, Montgomery K, Kucherlapati R, Mechtersheimer G, Eils R, Joos S, Lichter P

„Microarray-based copy number and expression profiling in dedifferentiated and pleomorphic liposarcoma“ Cancer Res 2002 62: 2993-2998

Gabus C, Mazroui R, Tremblay S, Khandjian EW, Darlix JL „The fragile X mental retardation protein has nucleic acid chaperone properties“ Nucleic Acids Res 2004 32:

2129-2137

Gecz J, Gedeon AK, Sutherland GR, Mulley JC „Identification of the gene FMR2, associated with FRAXE mental retardation“ Nat Genet 1996 13: 105-108

Gecz J, Mulley J „Genes for cognitive function: Developments on the X“ Genome Research 2000 10: 157-163

Gibbons RJ, Picketts DJ, Villard L, Higgs DR „Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)“ Cell 1995 80: 837-845

Gribble SM, Fiegler H, Burford DC, Prigmore E, Yang F, Carr P, Ng BL, Sun T, Kamberov ES, Makarov VL, Langmore JP, Carter NP „Applications of combined DNA microarray and chromosome sorting technologies“ Chromosome Res 2004 12: 35-43 Gu Y, Shen Y, Gibbs RA, Nelson DL „Identification of FMR2, a novel gene associated with

the FRAXE CCG repeat and CpG island“ Nat Genet 1996 13: 109-113

Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ „Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q“ Am J Med Genet 2003 120A: 127-135

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE „X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28“ Am J Hum Genet 2002 70:

1349-1356

Hardiman G „Microarray technologies - an overview. The University of California San Diego Extension, Bioscience, Microarray Technologies - an overview, March 13-15, 2002“

Pharmacogenomics 2002 3: 293-297

Hegde P, Qi R, Abernathy K, Gay C, Dharap S, Gaspard R, Earle-Hughes J, Snesrud E, Lee N, Quackenbush J „A concise guide to cDNA microarray analysis” Biotechniques 2000 29: 548-562

Heiskanen MA, Bittner ML, Chen Y, Khan J, Adler KE, Trent JM, Meltzer PS „Detection of gene amplification by genomic hybridization to cDNA microarrays“ Cancer Res 2000 60: 799-802

Herbst DS, Miller JR „Nonspecific X-linked mental retardation II: the frequency in British Columbia“ Am J Med Genet 1980 7: 461-469

Hollox EJ, Akrami SM, Armour JA „DNA copy number analysis by MAPH: molecular diagnostic applications“ Expert Rev Mol Diagn 2002 2: 370-378

Hyman E, Kauraniemi P, Hautaniemi S, Wolf M, Mousses S, Rozenblum E, Ringner M, Sauter G, Monni O, Elkahloun A, Kallioniemi OP, Kallioniemi „A Impact of DNA amplification on gene expression patterns in breast cancer“ Cancer Res 2002 62:

6240-6245

Jacobs PA, Strong JA „A case of human intersexuality having a possible XXY sex-determining mechanism“ Nature 1959 183: 302-303

Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T; Paris Autism Research International Sibpair Study „Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism“ Nat Genet 2003 34: 27-29

Johnston M „Array of hope for understanding gene regulation“ Curr Biol 1998 8: R171-174 Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D

„Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors“ Science 1992 258: 818-821

Kalousek DK „Pathogenesis of chromosomal mosaicism and its effect on early human development“ Am J Med Genet 2000 91: 39-45

Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gecz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH „Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation“ Nat Genet 2003 35: 313-315

Kauraniemi P, Barlund M, Monni O, Kallioniemi A „New amplified and highly expressed genes discovered in the ERBB2 amplicon in breast cancer by cDNA microarrays“

Cancer Res 2001 61: 8235-8240

Kennedy GC, Matsuzaki H, Dong S, Liu WM, Huang J, Liu G, Su X, Cao M, Chen W, Zhang J, Liu W, Yang G, Di X, Ryder T, He Z, Surti U, Phillips MS, Boyce-Jacino MT, Fodor SP, Jones KW „Large-scale genotyping of complex DNA“ Nat Biotechnol 2003 21: 1233-1237

Kleefstra T, Yntema HG, Oudakker AR, Banning MJG, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LBA, Hamel B, CJ, van Bokhoven H „Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation“ J Med Genet 2004 41: 394-399

Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J “Subtle chromosomal rearrangements in children with unexplained mental retardation” Lancet 1999 354: 1676-1681

Knudsen S „A Biologist`s guide to analysis of DNA microarray data“ First Edition, A John Wiley & Sons Inc. Publication, New York, USA 2002 pp.18-19

Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH „Genomic imbalances in mental retardation“ J Med Genet 2004 41: 249-255

Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A

„Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation“ Nat Genet 2000 26: 247-250 Lage JM, Leamon JH, Pejovic T, Hamann S, Lacey M, Dillon D, Segraves R, Vossbrinck B,

Gonzalez A, Pinkel D, Albertson DG, Costa J, Lizardi PM „Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array-CGH“ Genome Res 2003 13: 294-307

Langer-Safer PR, Levine M, Ward DC „Immunological method for mapping genes on Drosophila polytene chromosomes“ Proc Natl Acad Sci 1982 79: 4381-4385

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthelemy C, Moraine C, Briault S „X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family“ Am J Hum Genet 2004 74: 552-557

Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE „Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene“

Clin Genet 2002 61: 139-145

Lejeune J, Gautier M, Turpin R „Etude des chromosomes somatiques de neuf enfants mongoliens“ Comptes Rendus 1959 248: 1721-1722

Locke DP, Segraves R, Carbone L, Archidiacono N, Albertson DG, Pinkel D, Eichler EE

„Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization“ Genome Res 2003 13: 347-357

Lucito R, Nakimura M, West JA, Han Y, Chin K, Jensen K, McCombie R, Gray JW, Wigler M „Genetic analysis using genomic representations“ Proc Natl Acad Sci 1998 95:

4487-4492

Lucito R, West J, Reiner A, Alexander J, Esposito D, Mishra B, Powers S, Norton L, Wigler M „Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations“ Genome Res 2000 10: 1726-1736

Lucito R, Healy J, Alexander J, Reiner A, Esposito D, Chi M, Rodgers L, Brady A, Sebat J, Troge J, West JA, Rostan S, Nguyen KC, Powers S, Ye KQ, Olshen A, Venkatraman E, Norton L, Wigler M „Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation“ Genome Res 2003 13:

2291-2305

Mantripragada KK, Buckley PG, Jarbo C, Menzel U, Dumanski JP „Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection“

J Mol Med 2003 81: 443-451

Mantripragada KK, Buckley PG, de Stahl TD, Dumanski JP „Genomic microarrays in the spotlight“ Trends Genet 2004 20: 87-94

Mefford HC, Trask BJ „The complex structure and dynamic evolution of human subtelomeres“ Nat Rev Genet 2002 3: 91-102

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A „A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males“ Am J Hum Genet 2000 67: 982-985

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A „FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation“ Nat Genet 2002 30: 436-440

Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A „A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation“ Nat Genet 1999 22: 13-14

Monni O „Changes in DNA sequence copy number in diffuse large B-cell and mantle cell lymphoma“ Academic Dissertation. Department of Medical Genetics Haartman Institute, Department of Oncology, University of Helsinki, Finland 1998

Monni O, Bärlund M, Mousses S, Kononen J, Sauter G, Heiskanen M, Paavola P, Avela K, Chen Y, Bittner ML, Kallioniemi A „Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer“ Proc Natl Acad Sci 2001 98: 5711-5706

Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V „MECP2 mutation in male patients with non-specific X-linked mental retardation“ FEBS Lett 2000 481: 285-288

Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP „Multiple congenital anomaly caused by an extra autosome“ Lancet 1960 1: 790-793

Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW „High resolution analysis of DNA copy number variations using comparative genomic hybridization to microarrays“ Nat Genet 1998 20: 207-211

Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO „Genome-wide analysis of DNA copy-number changes using cDNA microarrays“ Nat Genet 1999 23: 41-46

Pollack JR, Sorlie T, Perou CM, Rees CA, Jeffrey SS, Lonning PE, Tibshirani R, Botstein D, Borresen-Dale AL, Brown PO „Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors“

Proc Natl Acad Sci 2002 99: 12963-12968

Ramakers GJA „Rho proteins and the cellular mechanisms of mental retardation“ Am J Med Genet 2000 94: 367-371

Reeves RH, Baxter LL, Richtsmeier JT „Too much of a good thing: mechanisms of gene action in Down syndrome“ Trends Genet 2001 17: 83-88

Robertson KD, Wolffe AP „DNA methylation in health and disease“ Nat Rev Genet 2000 1:

11-19

Rohrbough J, Grotewiel MS, Davis RL, Broadie K „Integrin-mediated regulation of synaptic morphology, transmission, and plasticity“ J Neurosci 2000 20: 6868-6878

Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partington M, Gecz J, Moraine C “Nonsyndromic X-linked mental retardation: where are the missing mutations?” Trends Genet 2003 19: 316-320

Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS „High prevalence of SLC6A8 deficiency in X-linked mental retardation“ Am J Hum Genet 2004 75: 97-105 Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C

„X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome“ Am J Hum Genet 2001 68: 1497-1500

Sassone-Corsi P, Mizzen CA, Cheung P, Crosio C, Monaco L, Jacquot S, Hanauer A, Allis CD „Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3“ Science 1999 285: 886-891

Schena M, Shalon D, Davis RW, Brown PO „Quantitative monitoring of gene expression patterns with a complementary DNA microarray“ Science 1995 270: 467-470

Schena M, Heller RA, Theriault TP, Konrad K, Lachenmeier E, Davis RW „Microarrays:

biotechnology`s discovery platform for functional genomics“ Trends Biotech 1998 16:

301-306

Schmickel RD „Contiguous gene syndromes: a component of recognizable syndromes“J Pediatr 1986 109: 231-241

Schoumans J, Anderlid BM, Blennow E, Teh BT, Nordenskjold M „The performance of CGH array for the detection of cryptic constitutional chromosome imbalances“ J Med Genet 2004 41: 198-202

Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T „Multicolor spectral karyotyping of human chromosomes“ Science 1996 273: 494-497

Schuchhardt J, Beule D, Malik A, Wolski E, Eickhoff H, Lehrach H, Herzel H

„Normalization strategies for cDNA microarrays“ Nucleic Acids Res 2000: 28 e47 i-v Seabright M „A rapid banding technique for human chromosomes“ Lancet 1971 2: 971-972 Sellner LN, Taylor GR „MLPA and MAPH: new techniques for detection of gene deletions“

Hum Mutat 2004 23: 413-419

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM „Mutations in the ZNF41 gene are associated with cognitive deficits:

identification of a new candidate for X-linked mental retardation“ Am J Hum Genet 2003 73: 1341-1354

Sismani C, Armour JA, Flint J, Girgalli C, Regan R, Patsalis PC „Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay“ Eur J Hum Genet 2001 9: 527-532

Smeets DFCM „Historical prospective of human cytogenetics: from microscope to microarray“ Clin Biochem 2004 37: 439-446

Smirnov DA, Burdick JT, Morley M, Cheung VG „Method for manufacturing whole-genome microarrays by rolling circle amplification“ Genes Chromosomes Cancer 2004 40: 72-77

Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG „Assembly of microarrays for genome-wide measurement of DNA copy number“ Nat Genet 2001 29: 263-264

Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P „Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances“ Genes Chromosomes Cancer 1997 20: 399-407

Speicher MR, Gwyn Ballard S, Ward DC „Karyotyping human chromosomes by combinatorial multi-color FISH“ Nat Genet 1996 12: 368-375

Stankiewicz P, Lupski JR „Genome architecture, rearrangements and genomic disorders“

Trends Genet 2002 18: 74-82

Stevenson RE „Splitting and Lumping in the Nosology of XLMR“ Am J Med Genet 2000 97:

174-182

Stillman BA, Tonkinson JL „Expression microarray hybridization kinetics depend on length of the immobilized DNA but are independent of immobilization substrate“ Anal Biochem 2001 295: 149-157

Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J „Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy“ Nat Genet 2002 30: 441-445

Sudbrak R, Wieczorek G, Nuber UA, Mann W, Kirchner R, Erdogan F, Brown CJ, Wohrle D, Sterk P, Kalscheuer VM, Berger W, Lehrach H, Ropers HH „X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications“ Hum Mol Genet 2001 10: 77-83

Sutherland GR “Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium“ Science 1977 197: 265-266

Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J „A new gene involved in X-linked mental

Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J „A new gene involved in X-linked mental