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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Bibliographic reference Callier, P ; Aral, B ; Hanna, N ; Lambert, S ; Dindy, H ; et. al. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. In: Clinical Genetics : an international journal of genetics and molecular medicine, Vol. 84, no.6, p. 507-521 (2013)
Permanent URL http://hdl.handle.net/2078.1/156865
  1. De Paepe Anne, Devereux Richard B., Dietz Harry C., Hennekam Raoul C. M., Pyeritz Reed E., Revised diagnostic criteria for the Marfan syndrome, 10.1002/(sici)1096-8628(19960424)62:4<417::aid-ajmg15>3.0.co;2-r
  2. Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G, The new Ghent criteria for Marfan syndrome: what do they change?, 10.1111/j.1399-0004.2011.01703.x
  3. Loeys B. L., Dietz H. C., Braverman A. C., Callewaert B. L., De Backer J., Devereux R. B., Hilhorst-Hofstee Y., Jondeau G., Faivre L., Milewicz D. M., Pyeritz R. E., Sponseller P. D., Wordsworth P., De Paepe A. M., The revised Ghent nosology for the Marfan syndrome, 10.1136/jmg.2009.072785
  4. Faivre L., Collod-Beroud G., Loeys B.L., Child A., Binquet C., Gautier E., Callewaert B., Arbustini E., Mayer K., Arslan-Kirchner M., Kiotsekoglou A., Comeglio P., Marziliano N., Dietz H.C., Halliday D., Beroud C., Bonithon-Kopp C., Claustres M., Muti C., Plauchu H., Robinson P.N., Adès L.C., Biggin A., Benetts B., Brett M., Holman K.J., De Backer J., Coucke P., Francke U., De Paepe A., Jondeau G., Boileau C., Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study, 10.1086/520125
  5. Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys B L, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson P N, Ades L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G, Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands, 10.1136/jmg.2007.056382
  6. Faivre L., Collod-Beroud G., Callewaert B., Child A., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M., Kiotsekoglou A., Comeglio P., Grasso M., Beroud C., Bonithon-Kopp C., Claustres M., Stheneur C., Bouchot O., Wolf J.E., Robinson P.N., Adès L., De Backer J., Coucke P., Francke U., De Paepe A., Boileau C., Jondeau G., Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion, 10.1002/ajmg.a.32809
  7. Faivre L., Masurel-Paulet A., Collod-Beroud G., Callewaert B. L., Child A. H., Stheneur C., Binquet C., Gautier E., Chevallier B., Huet F., Loeys B. L., Arbustini E., Mayer K., Arslan-Kirchner M., Kiotsekoglou A., Comeglio P., Grasso M., Halliday D. J., Beroud C., Bonithon-Kopp C., Claustres M., Robinson P. N., Ades L., De Backer J., Coucke P., Francke U., De Paepe A., Boileau C., Jondeau G., Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations, 10.1542/peds.2008-0703
  8. Stheneur Chantal, Collod-Béroud Gwenaëlle, Faivre Laurence, Gouya Laurent, Sultan Gilles, Le Parc Jean-Marie, Moura Bertrand, Attias David, Muti Christine, Sznajder Marc, Claustres Mireille, Junien Claudine, Baumann Clarisse, Cormier-Daire Valérie, Rio Marlène, Lyonnet Stanislas, Plauchu Henri, Lacombe Didier, Chevallier Bertrand, Jondeau Guillaume, Boileau Catherine, Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders, 10.1002/humu.20871
  9. Heikura Ulla, Taanila Anja, Olsen Päivi, Hartikainen Anna-Liisa, von Wendt Lennart, Järvelin Marjo-Riitta, Temporal Changes in Incidence and Prevalence of Intellectual Disability Between Two Birth Cohorts in Northern Finland*, 10.1352/0895-8017(2003)108<0019:tciiap>2.0.co;2
  10. Fryns Jean-Pierre, Buttiens Marc, Opitz John M., Reynolds James F., X-linked mental retardation with marfanoid habitus, 10.1002/ajmg.1320280202
  11. Lujan J. Enrique, Carlin Mary Esther, Lubs Herbert A., Opitz John M., A form of X-linked mental retardation with marfanoid habitus, 10.1002/ajmg.1320170124
  12. Fryns, Genet Couns, 2, 241 (1991)
  13. Van Buggenhout Griet, Fryns Jean-Pierre, 10.1186/1750-1172-1-26
  14. Fryns J. P., X-linked mental retardation with Marfanoid habitus, 10.1002/ajmg.1320380212
  15. Gurrieri Fiorella, Neri Giovanni, A girl with the Lujan-Fryns Syndrome, 10.1002/ajmg.1320380225
  16. Lerma-Carrillo Ivan, Molina Juan D., Cuevas-Duran Teresa, Julve-Correcher Carmen, Espejo-Saavedra Juan M., Andrade-Rosa Cristina, Lopez-Muñoz Francisco, Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review, 10.1002/ajmg.a.31503
  17. Wittine Lara M., Josephson Kevin D., Williams Marc S., Aortic root dilation in apparent Lujan-Fryns syndrome, 10.1002/(sici)1096-8628(19991029)86:5<405::aid-ajmg2>3.0.co;2-1
  18. Raymond F. Lucy, Tarpey Patrick S., Edkins Sarah, Tofts Calli, O’Meara Sarah, Teague Jon, Butler Adam, Stevens Claire, Barthorpe Syd, Buck Gemma, Cole Jennifer, Dicks Ed, Gray Kristian, Halliday Kelly, Hills Katy, Hinton Jonathon, Jones David, Menzies Andrew, Perry Janet, Raine Keiran, Shepherd Rebecca, Small Alexandra, Varian Jennifer, Widaa Sara, Mallya Uma, Moon Jenny, Luo Ying, Shaw Marie, Boyle Jackie, Kerr Bronwyn, Turner Gillian, Quarrell Oliver, Cole Trevor, Easton Douglas F., Wooster Richard, Bobrow Martin, Schwartz Charles E., Gecz Jozef, Stratton Michael R., Futreal P. Andrew, Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus, 10.1086/513609
  19. Schwartz C. E, Tarpey P. S, Lubs H. A, Verloes A., May M. M, Risheg H., Friez M. J, Futreal P A., Edkins S., Teague J., Briault S., Skinner C., Bauer-Carlin A., Simensen R. J, Joseph S. M, Jones J. R, Gecz J., Stratton M. R, Raymond F L., Stevenson R. E, The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene, 10.1136/jmg.2006.048637
  20. Tarpey Patrick S, Lucy Raymond F, Nguyen Lam S, Rodriguez Jayson, Hackett Anna, Vandeleur Lucianne, Smith Raffaella, Shoubridge Cheryl, Edkins Sarah, Stevens Claire, O'Meara Sarah, Tofts Calli, Barthorpe Syd, Buck Gemma, Cole Jennifer, Halliday Kelly, Hills Katy, Jones David, Mironenko Tatiana, Perry Janet, Varian Jennifer, West Sofie, Widaa Sara, Teague John, Dicks Ed, Butler Adam, Menzies Andrew, Richardson David, Jenkinson Andrew, Shepherd Rebecca, Raine Keiran, Moon Jenny, Luo Yin, Parnau Josep, Bhat Shambhu S, Gardner Alison, Corbett Mark, Brooks Doug, Thomas Paul, Parkinson-Lawrence Emma, Porteous Mary E, Warner John P, Sanderson Tracy, Pearson Pauline, Simensen Richard J, Skinner Cindy, Hoganson George, Superneau Duane, Wooster Richard, Bobrow Martin, Turner Gillian, Stevenson Roger E, Schwartz Charles E, Andrew Futreal P, Srivastava Anand K, Stratton Michael R, Gécz Jozef, Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation, 10.1038/ng2100
  21. Blazek Erik, Mittler Gerhard, Meisterernst Michael, The Mediator of RNA polymerase II, 10.1007/s00412-005-0329-5
  22. Hong S.-K., Haldin C. E., Lawson N. D., Weinstein B. M., Dawid I. B., Hukriede N. A., The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney, 10.1073/pnas.0509457102
  23. Swarthout John T., Lobo Sandra, Farh Lynn, Croke Monica R., Greentree Wendy K., Deschenes Robert J., Linder Maurine E., DHHC9 and GCP16 Constitute a Human Protein Fatty Acyltransferase with Specificity for H- and N-Ras, 10.1074/jbc.m504113200
  24. Conti Elena, Izaurralde Elisa, Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species, 10.1016/j.ceb.2005.04.005
  25. Risheg Hiba, Graham John M, Clark Robin D, Rogers R Curtis, Opitz John M, Moeschler John B, Peiffer Andreas P, May Melanie, Joseph Sumy M, Jones Julie R, Stevenson Roger E, Schwartz Charles E, Friez Michael J, A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome, 10.1038/ng1992
  26. Greally Marie T., Carey John C., Milewicz Dianna M., Hudgins Louanne, Goldberg Rosalie B., Shprintzen Robert J., Cousineau Anthony J., Smith Wilbur L., Judisch G. Frank, Hanson James W., Shprintzen-Goldberg syndrome: A clinical analysis, 10.1002/(sici)1096-8628(19980319)76:3<202::aid-ajmg2>3.0.co;2-s
  27. Robinson Peter N., Neumann Luitgard M., Demuth Stephanie, Enders Herbert, Jung Ursula, König Rainer, Mitulla Beate, Müller Dietmar, Muschke Petra, Pfeiffer Lutz, Prager Bettina, Somer Mirja, Tinschert Sigrid, Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis, 10.1002/ajmg.a.30431
  28. Kosaki Kenjiro, Takahashi Daisuke, Udaka Toru, Kosaki Rika, Matsumoto Morio, Ibe Shigeharu, Isobe Takeshi, Tanaka Yoko, Takahashi Takao, Molecular pathology of Shprintzen-Goldberg syndrome, 10.1002/ajmg.a.31006
  29. Sood Sumesh, Eldadah Zayz A., Krause Wilma L., Mclntosh Iain, Dietz Harry C., Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome, 10.1038/ng0296-209
  30. van Steensel Maurice A.M., van Geel Michel, Parren Lizelotte J.M.T., Schrander-Stumpel Constance T.R.M., Marcus-Soekarman Dominique, Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2, 10.1111/j.1600-0625.2007.00648.x
  31. Loeys Bart L, Chen Junji, Neptune Enid R, Judge Daniel P, Podowski Megan, Holm Tammy, Meyers Jennifer, Leitch Carmen C, Katsanis Nicholas, Sharifi Neda, Xu F Lauren, Myers Loretha A, Spevak Philip J, Cameron Duke E, Backer Julie De, Hellemans Jan, Chen Yan, Davis Elaine C, Webb Catherine L, Kress Wolfram, Coucke Paul, Rifkin Daniel B, De Paepe Anne M, Dietz Harry C, A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2, 10.1038/ng1511
  32. Adès L.C., Sullivan K., Biggin A., Haan E.A., Brett M., Holman K.J., Dixon J., Robertson S., Holmes A.D., Rogers J., Bennetts B., FBN1,TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited, 10.1002/ajmg.a.31202
  33. Stathopulu E., Ogilvie C. Mackie, Flinter F.A., Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome, 10.1002/ajmg.a.10268
  34. Zhang Sjzhong, Tang Yongcai, Dai Fupjng, Nœbuhr Erik, 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly, 10.1111/j.1399-0004.1990.tb03493.x
  35. Sandhu Harinder K., Sarkar Mitul, Turner Beth M., Wassink Tom H., Philibert Robert A., Polymorphism analysis ofHOPA: A candidate gene for schizophrenia, 10.1002/ajmg.b.20019
  36. Stheneur C., Oberkampf B., Chevallier B., Syndrome de Marfan : critères diagnostiques et apport de la biologie moléculaire, 10.1016/s0929-693x(08)71835-9
  37. Collod-Béroud Gwenaëlle, Le Bourdelles Saga, Ades Lesley, Ala-Kokko Leena, Booms Patrick, Boxer Maureen, Child Anne, Comeglio Paolo, De Paepe Anne, Hyland James C., Holman Katerine, Kaitila Ilkka, Loeys Bart, Matyas Gabor, Nuytinck Lieve, Peltonen Leena, Rantamaki Terhi, Robinson Peter, Steinmann Beat, Junien Claudine, Béroud Christophe, Boileau Catherine, Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database, 10.1002/humu.10249
  38. Frederic Melissa Yana, Hamroun Dalil, Faivre Laurence, Boileau Catherine, Jondeau Guillaume, Claustres Mireille, Béroud Christophe, Collod-Béroud Gwenaëlle, A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2, 10.1002/humu.20602
  39. Allen, Am J Hum Genet, 51, 1229 (1992)
  40. Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L, Delineation of 15q13.3 microdeletions, 10.1111/j.1399-0004.2010.01374.x
  41. Frédéric Mélissa Yana, Lalande Marine, Boileau Catherine, Hamroun Dalil, Claustres Mireille, Béroud Christophe, Collod-Béroud Gwenaëlle, UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2, 10.1002/humu.20970
  42. Arbustini Eloisa, Grasso Maurizia, Ansaldi Silvia, Malattia Clara, Pilotto Andrea, Porcu Emanuele, Disabella Eliana, Marziliano Nicola, Pisani Angela, Lanzarini Luca, Mannarino Savina, Larizza Daniela, Mosconi Mario, Antoniazzi Elena, Zoia M. Cristina, Meloni Giulia, Magrassi Lorenzo, Brega Agnese, Bedeschi Maria Francesca, Torrente Isabella, Mari Francesca, Tavazzi Luigi, Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies, 10.1002/humu.9377
  43. Biggin Andrew, Holman Katherine, Brett Maggie, Bennetts Bruce, Adès Lesley, Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy : MUTATIONS IN BRIEF, 10.1002/humu.9207
  44. Comeglio Paolo, Evans Alison L., Brice Glen W., Child Anne H., Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome, 10.1002/humu.1181
  45. Comeglio Paolo, Johnson Philip, Arno Gavin, Brice Glen, Evans Alison, Aragon-Martin José, Silva Filipe Pereira da, Kiotsekoglou Anatoli, Child Anne, The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193FBN1 mutations, 10.1002/humu.9505
  46. Howarth Rachel, Yearwood Catharina, Harvey John F., Application of dHPLC for Mutation Detection of the Fibrillin-1 Gene for the Diagnosis of Marfan Syndrome in a National Health Service Laboratory, 10.1089/gte.2006.0514
  47. Milewicz D M, Grossfield J, Cao S N, Kielty C, Covitz W, Jewett T, A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome., 10.1172/jci117930
  48. Buoni S., Zannolli R., Macucci F., Ansaldi S., Grasso M., Arbustini E., Fois A., The FBN1 (R2726W) mutation is not fully penetrant : Missense R2726W mutation of the FBN1 gene, 10.1046/j.1529-8817.2004.00113.x
  49. Van Dijk F.S., Hamel B.C., Hilhorst-Hofstee Y., Mulder B.J.M., Timmermans J., Pals G., Cobben J.M., Compound-heterozygous Marfan syndrome, 10.1016/j.ejmg.2008.11.004
  50. Tjeldhorn Lena, Rand-Hendriksen Svend, Gervin Kristina, Brandal Kristin, Inderhaug Elin, Geiran Odd, Paus Benedicte, Rapid and EfficientFBN1Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy, 10.1089/gte.2006.258-264
  51. Desmet François-Olivier, Hamroun Dalil, Lalande Marine, Collod-Béroud Gwenaëlle, Claustres Mireille, Béroud Christophe, Human Splicing Finder: an online bioinformatics tool to predict splicing signals, 10.1093/nar/gkp215
  52. de Vries Bert B.A., Pfundt Rolph, Leisink Martijn, Koolen David A., Vissers Lisenka E.L.M., Janssen Irene M., Reijmersdal Simon van, Nillesen Willy M., Huys Erik H.L.P.G., Leeuw Nicole de, Smeets Dominique, Sistermans Erik A., Feuth Ton, van Ravenswaaij-Arts Conny M.A., van Kessel Ad Geurts, Schoenmakers Eric F.P.M., Brunner Han G., Veltman Joris A., Diagnostic Genome Profiling in Mental Retardation, 10.1086/491719
  53. Ballif Blake C, Theisen Aaron, Coppinger Justine, Gowans Gordon C, Hersh Joseph H, Madan-Khetarpal Suneeta, Schmidt Karen R, Tervo Raymond, Escobar Luis F, Friedrich Christopher A, McDonald Marie, Campbell Lindsey, Ming Jeffrey E, Zackai Elaine H, Bejjani Bassem A, Shaffer Lisa G, Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication, 10.1186/1755-8166-1-8
  54. Willatt Lionel, Cox James, Barber John, Cabanas Elisabet Dachs, Collins Amanda, Donnai Dian, FitzPatrick David R., Maher Eddy, Martin Howard, Parnau Josep, Pindar Lesley, Ramsay Jacqueline, Shaw-Smith Charles, Sistermans Erik A., Tettenborn Michael, Trump Dorothy, de Vries Bert B.A., Walker Kate, Raymond F. Lucy, 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome, 10.1086/431653
  55. Faivre Laurence, Van Kien Philippe Khau, Callier Patrick, Ruiz-Pallares Nathalie, Baudoin Corinne, Plancke Aurélie, Wolf Jean-Eric, Thauvin-Robinet Christel, Durand Edith, Minot Delphine, Dulieu Véronique, Metaizeau Jean-Damien, Leheup Bruno, Coron Fanny, Bidot Samuel, Huet Frédéric, Jondeau Guillaume, Boileau Catherine, Claustres Mireille, Mugneret Francine, De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome, 10.1016/j.ejmg.2010.05.002
  56. Jacquemont Sébastien, Reymond Alexandre, Zufferey Flore, Harewood Louise, Walters Robin G., Kutalik Zoltán, Martinet Danielle, Shen Yiping, Valsesia Armand, Beckmann Noam D., Thorleifsson Gudmar, Belfiore Marco, Bouquillon Sonia, Campion Dominique, de Leeuw Nicole, de Vries Bert B. A., Esko Tõnu, Fernandez Bridget A., Fernández-Aranda Fernando, Fernández-Real José Manuel, Gratacòs Mònica, Guilmatre Audrey, Hoyer Juliane, Jarvelin Marjo-Riitta, Frank Kooy R., Kurg Ants, Le Caignec Cédric, Männik Katrin, Platt Orah S., Sanlaville Damien, Van Haelst Mieke M., Villatoro Gomez Sergi, Walha Faida, Wu Bai-lin, Yu Yongguo, Aboura Azzedine, Addor Marie-Claude, Alembik Yves, Antonarakis Stylianos E., Arveiler Benoît, Barth Magalie, Bednarek Nathalie, Béna Frédérique, Bergmann Sven, Beri Mylène, Bernardini Laura, Blaumeiser Bettina, Bonneau Dominique, Bottani Armand, Boute Odile, Brunner Han G., Cailley Dorothée, Callier Patrick, Chiesa Jean, Chrast Jacqueline, Coin Lachlan, Coutton Charles, Cuisset Jean-Marie, Cuvellier Jean-Christophe, David Albert, de Freminville Bénédicte, Delobel Bruno, Delrue Marie-Ange, Demeer Bénédicte, Descamps Dominique, Didelot Gérard, Dieterich Klaus, Disciglio Vittoria, Doco-Fenzy Martine, Drunat Séverine, Duban-Bedu Bénédicte, Dubourg Christèle, El-Sayed Moustafa Julia S., Elliott Paul, Faas Brigitte H. W., Faivre Laurence, Faudet Anne, Fellmann Florence, Ferrarini Alessandra, Fisher Richard, Flori Elisabeth, Forer Lukas, Gaillard Dominique, Gerard Marion, Gieger Christian, Gimelli Stefania, Gimelli Giorgio, Grabe Hans J., Guichet Agnès, Guillin Olivier, Hartikainen Anna-Liisa, Heron Délphine, Hippolyte Loyse, Holder Muriel, Homuth Georg, Isidor Bertrand, Jaillard Sylvie, Jaros Zdenek, Jiménez-Murcia Susana, Joly Helas Géraldine, Jonveaux Philippe, Kaksonen Satu, Keren Boris, Kloss-Brandstätter Anita, Knoers Nine V. A. M., Koolen David A., Kroisel Peter M., Kronenberg Florian, Labalme Audrey, Landais Emilie, Lapi Elisabetta, Layet Valérie, Legallic Solenn, Leheup Bruno, Leube Barbara, Lewis Suzanne, Lucas Josette, MacDermot Kay D., Magnusson Pall, Marshall Christian, Mathieu-Dramard Michèle, McCarthy Mark I., Meitinger Thomas, Antonietta Mencarelli Maria, Merla Giuseppe, Moerman Alexandre, Mooser Vincent, Morice-Picard Fanny, Mucciolo Mafalda, Nauck Matthias, Coumba Ndiaye Ndeye, Nordgren Ann, Pasquier Laurent, Petit Florence, Pfundt Rolph, Plessis Ghislaine, Rajcan-Separovic Evica, Paolo Ramelli Gian, Rauch Anita, Ravazzolo Roberto, Reis Andre, Renieri Alessandra, Richart Cristobal, Ried Janina S., Rieubland Claudine, Roberts Wendy, Roetzer Katharina M., Rooryck Caroline, Rossi Massimiliano, Saemundsen Evald, Satre Véronique, Schurmann Claudia, Sigurdsson Engilbert, Stavropoulos Dimitri J., Stefansson Hreinn, Tengström Carola, Thorsteinsdóttir Unnur, Tinahones Francisco J., Touraine Renaud, Vallée Louis, van Binsbergen Ellen, Van der Aa Nathalie, Vincent-Delorme Catherine, Visvikis-Siest Sophie, Vollenweider Peter, Völzke Henry, Vulto-van Silfhout Anneke T., Waeber Gérard, Wallgren-Pettersson Carina, Witwicki Robert M., Zwolinksi Simon, Andrieux Joris, Estivill Xavier, Gusella James F., Gustafsson Omar, Metspalu Andres, Scherer Stephen W., Stefansson Kari, Blakemore Alexandra I. F., Beckmann Jacques S., Froguel Philippe, Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus, 10.1038/nature10406
  57. Walters R. G., Jacquemont S., Valsesia A., de Smith A. J., Martinet D., Andersson J., Falchi M., Chen F., Andrieux J., Lobbens S., Delobel B., Stutzmann F., El-Sayed Moustafa J. S., Chèvre J.-C., Lecoeur C., Vatin V., Bouquillon S., Buxton J. L., Boute O., Holder-Espinasse M., Cuisset J.-M., Lemaitre M.-P., Ambresin A.-E., Brioschi A., Gaillard M., Giusti V., Fellmann F., Ferrarini A., Hadjikhani N., Campion D., Guilmatre A., Goldenberg A., Calmels N., Mandel J.-L., Le Caignec C., David A., Isidor B., Cordier M.-P., Dupuis-Girod S., Labalme A., Sanlaville D., Béri-Dexheimer M., Jonveaux P., Leheup B., Õunap K., Bochukova E. G., Henning E., Keogh J., Ellis R. J., MacDermot K. D., van Haelst M. M., Vincent-Delorme C., Plessis G., Touraine R., Philippe A., Malan V., Mathieu-Dramard M., Chiesa J., Blaumeiser B., Kooy R. F., Caiazzo R., Pigeyre M., Balkau B., Sladek R., Bergmann S., Mooser V., Waterworth D., Reymond A., Vollenweider P., Waeber G., Kurg A., Palta P., Esko T., Metspalu A., Nelis M., Elliott P., Hartikainen A.-L., McCarthy M. I., Peltonen L., Carlsson L., Jacobson P., Sjöström L., Huang N., Hurles M. E., O’Rahilly S., Farooqi I. S., Männik K., Jarvelin M.-R., Pattou F., Meyre D., Walley A. J., Coin L. J. M., Blakemore A. I. F., Froguel P., Beckmann J. S., A new highly penetrant form of obesity due to deletions on chromosome 16p11.2, 10.1038/nature08727
  58. Kitsiou-Tzeli Sophia, Tzetis Maria, Sofocleous Christalena, Vrettou Christina, Xaidara Athena, Giannikou Krinio, Pampanos Andreas, Mavrou Ariadne, Kanavakis E., De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature, 10.1002/ajmg.a.33447
  59. Sharp Andrew J, Mefford Heather C, Li Kelly, Baker Carl, Skinner Cindy, Stevenson Roger E, Schroer Richard J, Novara Francesca, De Gregori Manuela, Ciccone Roberto, Broomer Adam, Casuga Iris, Wang Yu, Xiao Chunlin, Barbacioru Catalin, Gimelli Giorgio, Bernardina Bernardo Dalla, Torniero Claudia, Giorda Roberto, Regan Regina, Murday Victoria, Mansour Sahar, Fichera Marco, Castiglia Lucia, Failla Pinella, Ventura Mario, Jiang Zhaoshi, Cooper Gregory M, Knight Samantha J L, Romano Corrado, Zuffardi Orsetta, Chen Caifu, Schwartz Charles E, Eichler Evan E, A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures, 10.1038/ng.93
  60. Nagamani Sandesh Chakravarthy Sreenath, Erez Ayelet, Shen Joseph, Li Chumei, Roeder Elizabeth, Cox Sarah, Karaviti Lefkothea, Pearson Margret, Kang Sung-Hae L, Sahoo Trilochan, Lalani Seema R, Stankiewicz Pawel, Sutton V Reid, Cheung Sau Wai, Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12, 10.1038/ejhg.2009.174
  61. Dubourg Christèle, Sanlaville Damien, Doco-Fenzy Martine, Le Caignec Cédric, Missirian Chantal, Jaillard Sylvie, Schluth-Bolard Caroline, Landais Emilie, Boute Odile, Philip Nicole, Toutain Annick, David Albert, Edery Patrick, Moncla Anne, Martin-Coignard Dominique, Vincent-Delorme Catherine, Mortemousque Isabelle, Duban-Bedu Bénédicte, Drunat Sèverine, Beri Mylène, Mosser Jean, Odent Sylvie, David Véronique, Andrieux Joris, Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation, 10.1016/j.ejmg.2010.11.003
  62. Magri Chiara, Piovani Giovanna, Pilotta Alba, Michele Traversa, Buzi Fabio, Barlati Sergio, De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia, 10.1016/j.ejmg.2010.12.011
  63. Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Zelante Leopoldo, Carella Massimo, A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report, 10.1186/1755-8166-5-1
  64. Mosca A.L., Callier P., Masurel-Paulet A., Thauvin-Robinet C., Marle N., Nouchy M., Huet F., Dipanda D., De Paepe A., Coucke P., Mugneret F., Faivre L., Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome, 10.1002/ajmg.a.33254
  65. Megarbane, Genet Couns, 8, 195 (1997)
  66. Vermeesch J R, Mosaicism for duplication 12q (12q13->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant, 10.1136/jmg.39.11.e72
  67. Siggberg L., Olsén P., Näntö-Salonen K., Knuutila S., 19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development, 10.1159/000320920