A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Osborne, Lucy R., Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa +3 more·2001·Nature Genetics
DOI 10.1038/ng753
Cited by (345)
Items 101–200 of 345
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- Language Abilities of Individuals with Williams SyndromeCarolyn Β. Mervis, Byron F. Robinson, Melissa L. Rowe, Angela M. Becerra, Bonnie Klein-Tasman · 2003 · International review of research in mental retardation
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- The Genomic Basis of Disease, Mechanisms and Assays for Genomic DisordersPaweł Stankiewicz, James R. Lupski · 2006 · KARGER eBooks
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- Williams-Beuren Syndrome: A Model of Recurrent Genomic MutationPérez Jurado, Luis Alberto · 2003 · Hormone Research in Paediatrics
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- Copy number variation at the breakpoint region of isochromosome 17qClaudia M.B. Carvalho, James R. Lupski · 2008 · Genome Research
- Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11Nicholas Simon Thomas, Miranda Durkie, Gemma Potts, Richard Sandford, Berendine van Zyl, Sheila A. Youings, Nicholas Robert Dennis, Patricia A. Jacobs · 2006 · European Journal of Human Genetics
- Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathersLaia Vergés, Òscar Molina, Esther Geán, Francesca Vidal, Joan Blanco · 2014 · Molecular Cytogenetics
- Copy number variations and human genetic diseaseFady M. Mikhail · 2014 · Current Opinion in Pediatrics
- Elicited production of relative clauses in children with Williams syndromeAndrea Zukowski · 2008 · Language and Cognitive Processes
- A 25-year odyssey of genomic technology advances and structural variant discoveryDavid Porubskỳ, Evan E. Eichler · 2024 · Cell
- Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” eraHeather C. Mefford · 2009 · Genetics in Medicine
- Comparison of TFII‐I gene family members deleted in Williams‐Beuren syndromeTimothy A. Hinsley, Pamela Cunliffe, Hannah Tipney, Andy Brass, May Tassabehji · 2004 · Protein Science
- Cognitive abilities in Williams syndromeDaniel Miezah, Melanie A. Porter, Jennifer Batchelor, Kelsie Boulton, Gabrielle Campos Veloso · 2020 · Research in Developmental Disabilities
- Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locusClaudia Torniero, Bernardo Dalla Bernardina, Francesca Novara, Annalisa Vetro, Ivana Ricca, Francesca Darra, Tiziano Pramparo, Renzo Guerrini, Orsetta Zuffardi · 2006 · European Journal of Human Genetics
- TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotypeSonye Karen Danoff, Harry E. Taylor, Seth Blackshaw, Stephen V. Desiderio · 2004 · Neuroscience
- Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the GenomeGhausia Begum, Ammar Albanna, Asma Bankapur, Nasna Nassir, Richa Tambi, Bakhrom K. Berdiev, Hosneara Akter, Noushad S. Karuvantevida, Barbara Kellam, Deena Alhashmi et al. · 2021 · International Journal of Molecular Sciences
- Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren SyndromeCharlotte N. Hor, Gábor Csárdi, Marie-Thérèse Zabot, Carmela Fusco, Sven Bergmann, Giuseppe Merla, Alexandre Reymond · 2011 · PLoS Computational Biology
- A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren SyndromeMelanie A. Porter, Carol Dobson‐Stone, John B. Kwok, Peter R. Schofield, William Beckett, May Tassabehji · 2012 · PLoS ONE
- Palindromes and genomic stress fractures: Bracing and repairing the damageSusanna M. Lewis, Atina G. Coté · 2006 · DNA repair
- Inversion variants in human and primate genomesClaudia Rita Catacchio, Flavia Angela Maria Maggiolini, Pietro D’Addabbo, Miriana Bitonto, Oronzo Capozzi, Martina Lepore Signorile, Mattia Miroballo, Nicoletta Archidiacono, Evan E. Eichler, Mario Ventura et al. · 2018 · Genome Research
- Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of RecurrenceCristina Aguado, Magdalena Gayà‐Vidal, Sergi Villatoro, Meritxell Oliva, David Izquierdo, Carla Giner-Delgado, Víctor Edwin Oré Montalvo, Judit García‐González, Alexander Martinez‐Fundichely, Laia Capilla et al. · 2014 · PLoS Genetics
- Identification of Copy Number Variants Defining Genomic Differences among Major Human GroupsLluı́s Armengol, Sergi Villatoro, Juan R. González, Lorena Pantano, Manel García‐Aragonés, Raquel Rabionet, Mario Cáceres, Xavier Estivill · 2009 · PLoS ONE
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- Assaying chromosomal inversions by single-molecule haplotypingDann Turner, Jay Shendure, Greg Porreca, George McDonald Church, Peter Green, Chris Tyler‐Smith, Matthew E. Hurles · 2006 · Nature Methods
- Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genesMichael D. Wilson, Joseph Cheung, Duane W. Martindale, Stephen W. Scherer, Ben F. Koop · 2006 · Physiological Genomics
- Williams Syndrome: 15 Years of Psychological ResearchCarolyn Β. Mervis · 2003 · Developmental Neuropsychology
- Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the MAPT H2 HaplotypeP. Nagesh Rao, W. Li, Lisenka E.L.M. Vissers, Joris Andre Veltman, Roel A. Ophoff · 2010 · Cytogenetic and Genome Research
- Inversion polymorphism in a complete human genome assemblyDavid Porubskỳ, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Benedict Paten, Ashley D. Sanders, Tobias Marschall et al. · 2023 · Genome biology
- Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysisMohana Ray, Steve Goldstein, Shiguo Zhou, Konstantinos D. Potamousis, Deepayan Sarkar, Michael A. Newton, Elizabeth J. Esterberg, Christina M. Kendziorski, Oliver Bögler, David C. Schwartz · 2013 · BMC Genomics
- Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disordersJanani S. Iyer, Santhosh Girirajan · 2015 · Briefings in Functional Genomics
- Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.Eric Kin Cheong Yau, Ivan F. M. Lo, S T S Lam · 2004 · PubMed
- The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndromeDuba, Hans-Christoph, Doll, Andreas, Neyer, Michael, Erdel, Martin, Mann, Christian, Hammerer, Ignaz, Utermann, Gerd, Grzeschik, Karl-Heinz · 2002 · European Journal of Human Genetics
- Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markersRoberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim · 2011 · Clinics
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M. McDonald‐McGinn, Matthew S. Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan et al. · 2018 · Human Molecular Genetics
- Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement eventsNina Bosch, Mario Cáceres, Maria Francesca Cardone, Anna Carreras, Ester Ballana, Mariano Rocchi, Lluı́s Armengol, Xavier Estivill · 2007 · Human Molecular Genetics
- Williams Syndrome: Daily Challenges and Positive Impact on the FamilySusan Scallan, Joyce Senior, Colin Joseph Reilly · 2010 · Journal of Applied Research in Intellectual Disabilities
- The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptomsElaine Tam, Edwin J. Young, Colleen A. Morris, Christian R. Marshall, Wayne Loo, Stephen W. Scherer, Carolyn Β. Mervis, Lucy R. Osborne · 2008 · American Journal of Medical Genetics Part A
- Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion PolymorphismNina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluı́s Armengol, Xavier Estivill · 2009 · PLoS ONE
- Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndromeNozomu Matsumoto, Rei Kitani, Federico Kalinec · 2011 · Communicative & Integrative Biology
- Detecting Copy Number Changes in Genomic DNA: MAPH and MLPAStefan J. White, Martijn H. Breuning, Johan T. den Dunnen · 2004 · Methods in cell biology
- No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndromeGabriel Stefan Gebhardt, Koenraad Devriendt, Reinhilde Thoelen, Ann Swillen, Elly Pijkels, Marc H. M. L. Gewillig, Jean‐Pierre Fryns, Joris Robert Vermeesch · 2003 · European Journal of Human Genetics
- Chromosomal phenotypes and submicroscopic abnormalitiesKoenraad Devriendt, Joris Robert Vermeesch · 2004 · Human Genomics
- Bridging the gene–behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromesDaniel Paul Eisenberg, Mbemba Jabbi, Karen Faith Berman · 2010 · NeuroImage
- Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architectureRoberto Ciccone, Teresa Mattina, Roberto Giorda, María Clara Bonaglia, M Rocchi, T Pramparo, Orsetta Zuffardi · 2006 · Journal of Medical Genetics
- Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCRCornelia Schubert, Franco A. Laccone · 2006 · International Journal of Molecular Medicine
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locusFlavia Angela Maria Maggiolini, Stuart Cantsilieris, Pietro D’Addabbo, Michele Manganelli, Bradley P. Coe, Beth L. Dumont, Ashley D. Sanders, Andy Wing Chun Pang, Mitchell Robert Vollger, Orazio Palumbo et al. · 2019 · PLoS Genetics
- Genomic structural variation: A complex but important driver of human evolutionDaniela C. Soto, José M. Uribe‐Salazar, Colin J. Shew, Aarthi Sekar, Sean P. McGinty, Megan Y. Dennis · 2023 · American Journal of Biological Anthropology
- Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangementsSilvana Beri, María Clara Bonaglia, Roberto Giorda · 2012 · European Journal of Human Genetics
- Williams Syndrome As a Model for Elucidation of the Pathway Genes - the Brain - Cognitive Functions: Genetics and EpigeneticsEkaterina Alexandrovna Nikitina, А. В. Медведева, Gennadii A. Zakharov, Elena V. Savvateeva-Popova · 2014 · Acta Naturae
- An alignment-free method to find and visualise rearrangements between pairs of DNA sequencesDiogo Pratas, Raquel Monteiro Silva, Armando J. Pinho, Paulo J. S. G. Ferreira · 2015 · Scientific Reports
- Variability and standardized test profiles in typically developing children and children with Williams SyndromeJo Van Herwegen, Gabriella Rundblad, Eddy J. Davelaar, Dagmara Annaz · 2011 · British Journal of Developmental Psychology
- Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardationThomy J.L. de Ravel, J P Fryns, Jozef Van Driessche, Joris Robert Vermeesch · 2003 · American Journal of Medical Genetics Part A
- Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann, Lan Kluwe, D.N. Cooper, Hilde Brems, Thomas De Raedt, Eric Legius, Viktor-Felix Mautner, Hildegard Kehrer‐Sawatzki · 2008 · European Journal of Human Genetics
- Discovery of large genomic inversions using long range informationMarzieh Eslami Rasekh, Giorgia Chiatante, Mattia Miroballo, Joyce Tang, Mario Ventura, Chris T. Amemiya, Evan E. Eichler, Francesca Antonacci, Can Alkan · 2017 · BMC Genomics
- Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPARachel Sayuri Honjo, Roberta Lelis Dutra, Érika Arai Furusawa, Évelin Aline Zanardo, Larissa Sampaio de Athayde, Leslie Domenici Kulikowski, Débora Romeo Bertola, Chong Ae Kim · 2015 · BioMed Research International
- Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletionAlessandra Baumer, Mariluce Riegel, A Schinzel · 2004 · Journal of Medical Genetics
- Somatic recombination reduxJay A. Tischfield, Changshun Shao · 2002 · Nature Genetics
- Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray AnalysisLin Li, Linhuan Huang, Yanmin Luo, Xuan Huang, Shaobin Lin, Qun Fang · 2015 · Molecular Syndromology
- Characterization of genome-wide segmental duplications reveals a common genomic feature of association with immunity among domestic animalsXiaotian Feng, Jicai Jiang, Abinash Padhi, Chao Ning, Jinluan Fu, Aiguo Wang, Raphael Mrode, Jianfeng Liu · 2017 · BMC Genomics
- An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndromeLaia Vergés, Francesca Vidal, Esther Geán, Alexandra Alemany‐Schmidt, M. Oliver‐Bonet, Joan Blanco · 2017 · Scientific Reports
- Severe hypoplasia of the abdominal aorta and its branches in a patient and his daughterA. Dejardin, Pierre P. Goffette, P Moulin, Robert Verhelst, G. Cornu, J. F. De Plaen, Alexandre Persu · 2003 · Journal of Internal Medicine
- Structural Chromosome RearrangementsKathleen A. Kaiser‐Rogers, Kathleen Rao · 2005 · Humana Press eBooks
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolutionFlavia Angela Maria Maggiolini, Ashley D. Sanders, Colin J. Shew, Arvis Sulovari, Yafei Mao, Marta Puig, Claudia Rita Catacchio, Maria Dellino, Donato Palmisano, Ludovica Mercuri et al. · 2020 · Genome Research
- CNVs and genetic medicine (excitement and consequences of a rediscovery)Jacques Samuel Beckmann, Andrew J. Sharp, Stylianos E. Antonarakis · 2008 · Cytogenetic and Genome Research
- Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzeesJustyna M. Szamalek, D.N. Cooper, W. Schempp, Peter Minich, Matthias Kohn, Josef J. Hoegel, Violaine Goidts, Horst Hameister, Hildegard Kehrer‐Sawatzki · 2005 · Human Genetics
- F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic DiagnosisMuhammad Ahmer Jamil, Amit Sharma, Nicole Nüsgen, Behnaz Pezeshkpoor, André Heimbach, Anne Pavlova, Johannes Oldenburg, Osman El‐Maarri · 2019 · Frontiers in Genetics
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variationYulia Mostovoy, Feyza Yilmaz, Stephen K. Chow, Catherine Chu, Chin Jia Lin, Elizabeth A. Geiger, Naomi J. L. Meeks, Kathryn C. Chatfield, Curtis R. Coughlin, Urvashi Surti et al. · 2021 · Genetics
- Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from CameroonCedrik Tekendo‐Ngongang, Sophie P. Dahoun, Séraphin Nguefack, Stefania Gimelli, Frederique Sloan Bena, Ambroise Wonkam · 2014 · Molecular Syndromology
- Vive la difference!Charles Lee · 2005 · Nature Genetics
- Human chromosome 7 circa 2004: a model for structural and functional studies of the human genomeStephen W. Scherer · 2004 · Human Molecular Genetics
- Williams Syndrome: A Neurogenetic Model of Human BehaviorJulie R. Korenberg, Ursula Bellugi, Lora S. Salandanan, Debra L. Mills, Allan L. Reiss · 2006 · Encyclopedia of Life Sciences
- Genetic Predisposition in Degenerative Lumbar Scoliosis due to the Copy Number VariationJae Hyuk Shin, Kee-Yong Ha, Seung‐Hyun Jung, Yeun‐Jun Chung · 2011 · Spine
- Word Reading and Reading-Related Skills in Hebrew- Speaking Adolescents with Williams SyndromeYonata Levy, Vered Antebi · 2004 · Neurocase
- Medical overview and genetics of Williams-Beuren syndromeLeslie B. Smoot, Hui Zhang, Cheryl Klaiman, Robert T. Schultz, Barbara R. Pober · 2005 · Progress in Pediatric Cardiology
- Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysisHan Kang, Yifei Chen, Lingxi Wang, Chonglan Gao, Xingyu Li, Yu Hu · 2023 · Journal of Perinatal Medicine
- Cardiovascular findings in Williams–Beuren Syndrome : Experience of a single center with 127 casesRachel Sayuri Honjo, Vanessa Figueiredo Monteleone, Vera Demarchi Aiello, Jaqueline Wagenführ, Victor Sarli Issa, Pablo Maria Alberto Pomerantzeff, Érika Arai Furusawa, Évelin Aline Zanardo, Leslie Domenici Kulikowski, Débora Romeo Bertola et al. · 2021 · American Journal of Medical Genetics Part A
- The Effect of Genomic Inversions on Estimation of Population Genetic Parameters from SNP DataNafisa-Katrin Seich al Basatena, Clive J. Hoggart, Lachlan Coin, Paul F. O’Reilly · 2012 · Genetics
- Comparing Two Diagnostic Laboratory Tests for Williams Syndrome: Fluorescent In Situ Hybridization versus Multiplex Ligation-Dependent Probe AmplificationJohanna M. van Hagen, H. J. Eussen, Ron van Schooten, Jos N. van der Geest, Gerardina C. Lagers-van Haselen, Cokkie H. Wouters, Chris I. De Zeeuw, Johan J.P. Gille · 2007 · Genetic Testing
- Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary DataPaolo Alfieri, Francesco Scibelli, Laura Casula, Simone Piga, Eleonora Napoli, Giovanni Valeri, Stefano Vicari · 2021 · Brain Sciences
- New insights into the biological basis of genomic disordersSimon Robert Myers, Steven A. McCarroll · 2006 · Nature Genetics
- Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, Daniela Orteschi, Giuseppe Marangi, Angelo Selicorni, Alina Teresa Midro, Giovanni Sorge, Giuseppe Zampino, Luigi Memo et al. · 2007 · Human Genetics
- Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams SyndromeAriel M. Pani, Holly H. Hobart, Colleen A. Morris, Carolyn Β. Mervis, Patricia Bray‐Ward, Kendra W. Kimberley, Cecilia M. Rios, Robin C. Clark, Maricela D. Gulbronson, Gordon C. Gowans et al. · 2010 · PLoS ONE
- Genome-wide detection of autosomal copy number variants in several sheep breeds using Illumina OvineSNP50 BeadChipsJuncong Yan, Hugh Thomas Blair, Mingjun Liu, Wenrong Li, Sangang He, Lei Chen, Keren E. Dittmer, Dorian J. Garrick, Patrick J. Biggs, V.S.R. Dukkipati · 2017 · Small Ruminant Research