Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Cited by (468)

Items 201–300 of 468

1. Further characterization of microdeletion syndrome involving 2p15‐p16.1
   Têmis Maria Félix, Aline Lourenço Petrin, Maria Teresa Vieira Sanseverino, Jeffrey C. Murray · 2010 · American Journal of Medical Genetics Part A
2. Diagnosis and clinical management of duplications and deletions
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3. Molecular karyotyping in human constitutional cytogenetics
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4. Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
   Karen Buysse, Björn Menten, Ann Oostra, Sylvie Tavernier, Geert R. Mortier, Frank Speleman · 2008 · American Journal of Medical Genetics Part A
5. A variant Cri du Chat phenotype and autism spectrum disorder in a subject withde novocryptic microdeletions involving 5p15.2 and 3p24.3‐25 detected using whole genomic array CGH
   Chansonette Harvard, Patrick Malenfant, M Koochek, Susan Creighton, Elizabeth C. R. Mickelson, JJA Holden, M. E. Suzanne Lewis, Evica Rajcan‐Separovic · 2005 · Clinical Genetics
6. Contribution of Rare Copy Number Variants to Isolated Human Malformations
   Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis Alberto Pérez Jurado · 2012 · PLoS ONE
7. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
   Lisenka E.L.M. Vissers, Paweł Stankiewicz, Svetlana A. Yatsenko, Emily Crawford, Heather A. Creswick, Virginia K. Proud, Bert B A De Vries, Rolph Pfundt, Carlo Marcelis, Joleen L. Zackowski et al. · 2007 · Human Genetics
8. Novel candidate tumour suppressor gene loci on chromosomes 11q23–24 and 22q13 involved in human insulinoma tumourigenesis
   Yvonne M.H. Versleijen‐Jonkers, Sandra M.H. Claessen, Thijs Feuth, Ad Geurts van Kessel, Frans C. S. Ramaekers, Joris Andre Veltman, Ernst‐Jan M. Speel · 2006 · The Journal of Pathology
9. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing
   Andrew Wong, Christa Lese Martin, Konstantina Heretis, Teresa M. Ruffalo, Kim Wilber, Walter King, David H. Ledbetter · 2005 · Genetics in Medicine
10. Heterozygous deletion at 14q22.1–q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly
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11. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
    Roxana Kariminejad, Allan Lind-Thomsen, Zeynep Tümer, Fikret Erdogan, Hans‐Hilger Ropers, Niels Tommerup, Reinhard Ullmann, Rikke Steensbjerre Møller · 2011 · Human Mutation
12. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
    Jacqueline Schoumans, Ann Nordgren, Claudia A. L. Ruivenkamp, Karen Brøndum‐Nielsen, Bin Tean Teh, Göran Annerén, Eva Holmberg, Magnus Nordenskjöld, Britt‐Marie Anderlid · 2004 · European Journal of Human Genetics
13. Progress in Methods for Copy Number Variation Profiling
    Veronika D. Gordeeva, Elena Ivanovna Sharova, Georgij P. Arapidi · 2022 · International Journal of Molecular Sciences
14. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
    Brian Hon‐Yin Chung, James Stavropoulos, Christian R. Marshall, Rosanna Weksberg, Stephen W. Scherer, Grace Yoon · 2011 · American Journal of Medical Genetics Part A
15. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation
    Yuan Wei, Fang Xu, Peining Li · 2012 · Journal of genetics and genomics/Journal of Genetics and Genomics
16. Detecting Copy Number Changes in Genomic DNA: MAPH and MLPA
    Stefan J. White, Martijn H. Breuning, Johan T. den Dunnen · 2004 · Methods in cell biology
17. Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH
    Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning, Károly Szuhai · 2007 · American Journal of Medical Genetics Part A
18. Genome‐wide array‐based copy number profiling in human placentas from unexplained stillbirths
    Ronald Alan Harris, Francesca Ferrari, Shay Ben‐Shachar, Xiaoling Wang, George Robert Saade, Ignatia B. Van den Veyver, Fabio Facchinetti, Kjersti M Aagaard-Tillery · 2011 · Prenatal Diagnosis
19. Molecular parameters associated with insulinoma progression: chromosomal instability versus p53 and CK19 status
    Yvonne M.H. Versleijen‐Jonkers, Sandra M.H. Claessen, Joris Andre Veltman, Ad Geurts van Kessel, Winand N.M. Dinjens, Britt M. Skogseid, Frans C. S. Ramaekers, Ernst‐Jan M. Speel · 2006 · Cytogenetic and Genome Research
20. Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis
    William G. Newman, Sara Jane Hamilton, J G Ayres, Narinder Sanghera, A Smith, Lorraine Gaunt, Linda Mary Davies, Jill Clayton‐Smith · 2007 · Clinical Genetics
21. Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene
    Anita Bonné, Lilian Vreede, Roland P. Kuiper, Daniëlle Bodmer, Corine Jansen, Marc J. Eleveld, Femke van Erp, Ger J. A. Arkesteijn, Nicoline Hoogerbrugge, Conny M.A. van Ravenswaaij‐Arts et al. · 2007 · Cancer Genetics and Cytogenetics
22. A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome
    Katrina Prescott, Kathryn Woodfine, Paula Stubbs, Maurice Super, Bronwyn A. Kerr, Rodger W. Palmer, Nigel P. Carter, Peter James Scambler · 2004 · Human Genetics
23. A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development
    Sascha Vermeer, David A. Koolen, Gepke Visser, Hein Brackel, Ineke van der Burgt, Nicole de Leeuw, Michèl A.A.P. Willemsen, Erik A. Sistermans, Rolph Pfundt, Bert B A De Vries · 2007 · Developmental Medicine & Child Neurology
24. The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases
    Hui Wang, Li‐San Wang, Gerard D. Schellenberg, Wan‐Ping Lee · 2023 · Frontiers in Aging Neuroscience
25. Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies
    Brandon M. Shearer, Erik C. Thorland, Patrick R. Gonzales, Rhett P. Ketterling · 2007 · American Journal of Medical Genetics Part A
26. DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications
    Kathleen Rooney, Bekim Sadiković · 2022 · International Journal of Molecular Sciences
27. Application of metaphase HR‐CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
    Beata Nowakowska, Paweł Stankiewicz, Ewa Obersztyn, Zhishuo Ou, Jessica Shu Nan Li, A. Craig Chinault, Marta Smyk, Katarzyna Borg, Tadeusz Mazurczak, Sau Wai Cheung et al. · 2008 · American Journal of Medical Genetics Part A
28. Structural Genome Variations Related to Craniosynostosis
    Martin Poot · 2018 · Molecular Syndromology
29. Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)
    Santhosh Girirajan, Roberto Mendoza‐Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell, Sarah H. Elsea · 2007 · American Journal of Medical Genetics Part A
30. Interstitial 6q deletion: clinical and array CGH characterisation of a new patient
    Cédric Le Caignec, Ann Swillen, Elvire Van Assche, Jean‐Pierre Fryns, Joris Robert Vermeesch · 2005 · European Journal of Medical Genetics
31. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
    Tjitske Kleefstra, David A. Koolen, Willy M. Nillesen, Nicole de Leeuw, Ben C.J. Hamel, Joris Andre Veltman, Erik A. Sistermans, Hans van Bokhoven, Conny van Ravenswaay, Bert B A De Vries · 2006 · American Journal of Medical Genetics Part A
32. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
    Grace J. Noh, John M. Graham · 2011 · European Journal of Medical Genetics
33. Phenotype profiling of patients with intellectual disability and copy number variations
    Mónica Rosello, Francisco Martı́nez, Sandra Monfort, Sonia Mayo, Silvestre Oltra, Carmen Orellana · 2014 · European Journal of Paediatric Neurology
34. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements
    Alexander P.A. Stegmann, L.M.H. Jonker, John J.M. Engelen · 2007 · European Journal of Medical Genetics
35. A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization
    David A. Koolen, LELM Vissers, Willy M. Nillesen, Dominique Smeets, Conny M.A. van Ravenswaaij‐Arts, Erik A. Sistermans, Joris Andre Veltman, Bert B A De Vries · 2004 · Clinical Genetics
36. De novo monosomy 9p24.3‐pter and trisomy 17q24.3‐qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency
    Sophie Brisset, Serdar Kasakyan, Aurore Coulomb L’Herminé, V. Mairovitz, Evelyne Gautier, M. C. Aubry, Moncef Benkhalifa, Gérard Tachdjian · 2006 · Prenatal Diagnosis
37. High-resolution genomic microarrays for X-linked mental retardation
    Dorien Lugtenberg, Joris Andre Veltman, Hans van Bokhoven · 2007 · Genetics in Medicine
38. Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature
    Mitsuo Motobayashi, Akira Nishimura‐Tadaki, Yuji Inaba, Tomoki Kosho, Satoko Miyatake, Taemi Niimi, Takafumi Nishimura, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto et al. · 2012 · American Journal of Medical Genetics Part A
39. Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes
    Heike Fiegler, Richard Redon, Nigel P. Carter · 2007 · Nature Protocols
40. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
    Martin Poot, Ron Hochstenbach · 2010 · Genetics in Medicine
41. Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
    Björn Menten, Karen Buysse, Jo Vandesompele, Els De Smet, Anne De Paepe, Frank Speleman, Geert R. Mortier · 2005 · European Journal of Medical Genetics
42. Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses
    Silvia Caroselli, M Figliuzzi, Ludovica Picchetta, Francesco Cogo, Paola Zambon, Ilaria Pergher, Laura de Carvalho Girardi, Cristina Patassini, Maurizio Poli, Daniela N. Bakalova et al. · 2023 · Human Reproduction
43. Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
    Shin Hayashi, Issei Imoto, Yoshinori Aizu, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Nana Okamoto, Shozo Honda, Satoshi Araki, Shuki Mizutani et al. · 2010 · Journal of Human Genetics
44. Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review
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45. Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma
    Marija Mihelec, Luke St Heaps, Maree P. Flaherty, Frank A. Billson, Christina Rudduck, Patrick Tam, John Grigg, Greg B. Peters, Robyn V. Jamieson · 2008 · Twin Research and Human Genetics
46. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
    Dorien Lugtenberg, Arjan P.M. de Brouwer, Astrid R. Oudakker, Rolph Pfundt, Ben C.J. Hamel, Hans van Bokhoven, Ernie M.H.F. Bongers · 2009 · American Journal of Medical Genetics Part A
47. Defining Ploidy-Specific Thresholds in Array Comparative Genomic Hybridization to Improve the Sensitivity of Detection of Single Copy Alterations in Cell Lines
    Grace Ng, Jingxiang Huang, Ian Roberts, Nicholas Coleman · 2006 · Journal of Molecular Diagnostics
48. Advancements in copy number variation screening in herbivorous livestock genomes and their association with phenotypic traits
    Xiaotong Liu, Wenting Chen, Bingjian Huang, Xinrui Wang, Yongdong Peng, Xinhao Zhang, Wenqiong Chai, Muhammad Zahoor Khan, Changfa Wang · 2024 · Frontiers in Veterinary Science
49. Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
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50. Chromosome analysis: what and when to request
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51. Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis
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52. Oral Cavity and Oropharyngeal Squamous Cell Carcinoma Genomics
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53. Idiopathic learning disability and genome imbalance
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54. Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation and Zygosity Status
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55. Oligonucleotide microarrays in constitutional genetic diagnosis
    Boris Keren, Cédric Le Caignec · 2011 · Expert Review of Molecular Diagnostics
56. Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples
    Jin Yeong Choe, Jaeku Kang, Chang-Jun Bae, Dong-Suk Lee, Doyeong Hwang, Kichul Kim, Park Woong‐Yang, Jong-Ho Lee, Jeong‐Sun Seo · 2007 · Journal of Human Genetics
57. Characterisation of hairy cell leukaemia by tiling resolution array‐based comparative Genome hybridisation: a series of 13 cases and review of the literature
    Ann Nordgren, Martin Corcoran, Annika M. Sääf, Anna Bremer, Hanneke C. Kluin‐Nelemans, Jacqueline Schoumans, Dan Grandér · 2009 · European Journal Of Haematology
58. Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability
    Eric R. Londin, Jeffrey Adijanto, Nancy J. Philp, Antonio Novelli, Emilia Vitale, Chiara Perrìa, Gigliola Serra, Viola Alesi, Saul Surrey, Paolo M. Fortina · 2014 · American Journal of Medical Genetics Part A
59. Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields
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60. Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.
    Ashutosh Halder, Manish Jain, Isha Chaudhary, Neerja Gupta, Madhulika Kabra · 2013 · Europe PMC (PubMed Central)
61. Chromosome 22q11 deletion and pachygyria characterized by array‐based comparative genomic hybridization
    David A. Koolen, Joris Andre Veltman, W.O. Renier, Richard P. Droog, Ad Geurts van Kessel, Bert B A De Vries · 2004 · American Journal of Medical Genetics Part A
62. Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches
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63. Array‐based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions
    Sophia K. Krutzke, Hartmut Engels, Andrea Hofmann, Madita M. Schumann, Kirsten Cremer, Alexander M. Zink, Alina Christine Hilger, Michael Z. Ludwig, Ulrich Gembruch, Heiko Martin Reutter et al. · 2015 · Birth Defects Research Part A Clinical and Molecular Teratology
64. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype
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65. Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome
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66. WaveDec: A Wavelet Approach to Identify Both Shared and Individual Patterns of Copy-Number Variations
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67. Narrowing the deleted region associated with the 15q21 syndrome
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68. Constitutional DNA copy number changes in ICSI children
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69. The Use of Subtelomeric Probes to Study Mental Retardation
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70. An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
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71. Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country
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72. A duplication including GATA4 does not co‐segregate with congenital heart defects
    Irene C. Joziasse, Jasper J. van der Smagt, Martin Poot, Ron Hochstenbach, Marcel R. Nelen, Marielle E van Gijn, Dennis Dooijes, Barbara J.M. Mulder, Pieter A. Doevendans · 2009 · American Journal of Medical Genetics Part A
73. Array-based comparative genomic hybridization–guided identification of reference genes for normalization of real-time quantitative polymerase chain reaction assay data for lymphomas, histiocytic sarcomas, and osteosarcomas of dogs
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74. Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome
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75. Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23
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76. 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
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77. Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development
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78. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
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79. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
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80. Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development
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81. Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q
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82. A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation
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83. Prenatal Diagnosis Using Array CGH
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84. Molecular alterations during insulinoma tumorigenesis
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85. Molecular karyotyping of single sperm with nuclear vacuoles identifies more chromosomal abnormalities in patients with testiculopathy than fertile controls: implications for ICSI
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86. Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil
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87. Stillbirth: Genome-wide copy number variation profiling in archived placental umbilical cord samples with pathologic and clinical correlation
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88. Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation
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89. Structural Genomic Variation in Intellectual Disability
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90. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
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91. Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
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92. A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome
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93. The use of genomic microarrays to study chromosomal abnormalities in mental retardation
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94. Complex chromosomal rearrangement in a girl with psychomotor‐retardation and a de novo inversion: inv(2)(p15;q24.2)
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95. Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses
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96. Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects
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97. RETIRED: Genomics: New Technology for Obstetrics and Gynaecology
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98. Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
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99. A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
    Bente A. Talseth‐Palmer, Nikola A. Bowden, Cliff J. Meldrum, J. Nicholl, Elizabeth M. Thompson, Kathryn L. Friend, Jan E. Liebelt, Drago Bratkovic, E Haan, S. Yu et al. · 2009 · Cytogenetic and Genome Research
100. Molekulare Karyotypisierung in der Diagnostik neurokognitiver Entwicklungsstörungen
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