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Trisomy first, translocation second, uniparental disomy and partial trisomy third: A new mechanism for complex chromosomal aneuploidy 三体第一，易位第二，单亲二体和部分三体第三: 复杂染色体非整倍体的新机制 Schinzel, A; Kotzot, D; Brecevic, L; Robinson, WP; Dutly, F; Dauwerse, H; Binkert, F; Baumer, A; Ausserer, B 分享 收藏
Small supernumerary marker chromosomes: A legacy of trisomy rescue? Kurtas, Nehir Edibe; Xumerle, Luciano; Leonardelli, Lorena; Delledonne, Massimo; Brusco, Alfredo; Chrzanowska, Krystyna; Schinzel, Albert; Larizza, Daniela; Guerneri, Silvana; Natacci, Federica; Bonaglia, Maria Clara; Reho, Paolo; Manolakos, Emmanouil; Mattina, Teresa; Soli, Fiorenza; Provenzano, Aldesia; Al-Rikabi, Ahmed H.; Errichiello, Edoardo; Nazaryan-Petersen, Lusine; Giglio, Sabrina; Tommerup, Niels; Liehr, Thomas; Zuffardi, Orsetta 分享 收藏
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling Asadollahi, Reza; Strauss, Justin E.; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M.; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B.; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T.; Rauch, Anita 分享 收藏
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A.; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B.; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A.; Kayserili, Hulya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G.; Mihci, Ercan; Moreira, Lilia M. A.; Ferreira, Viviane Borges; Horovitz, Dafne D. G.; da Rocha, Katia M.; Jezela-Stanek, Aleksandra; Brooks, Alice S.; Reutter, Heiko; Cohen, Julie S.; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A.; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Lourenco, Charles Marques; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A.; De Vries, Bert B. A.; Schinzel, Albert; Fisher, Simon E.; Hoischen, Alexander; van Bon, Bregje W. 分享 收藏
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease Guo, Dong-chuan; Duan, Xue-Yan; Regalado, Ellen S.; Mellor-Crummey, Lauren; Kwartler, Callie S.; Kim, Dong; Lieberman, Kenneth; de Vries, Bert B. A.; Pfundt, Rolph; Schinzel, Albert; Kotzot, Dieter; Shen, Xuetong; Yang, Min-Lee; Bamshad, Michael J.; Nickerson, Deborah A.; Gornik, Heather L.; Ganesh, Santhi K.; Braverman, Alan C.; Grange, Dorothy K.; Milewicz, Dianna M. 分享 收藏
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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valerie; Beales, Philip L.; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Ferechte; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attie-Bitach, Tania 分享 收藏
An ancient founder mutation in PROKR2 impairs human reproduction Stefanija, Magdalena Avbelj; Jeanpierre, Marc; Sykiotis, Gerasimos P.; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G.; Balasubramanian, Ravikumar; Dwyer, Andrew A.; Florez, Jose C.; Cheetham, Timothy; Pearce, Simon H.; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E.; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F.; Dode, Catherine; Crowley, William F., Jr.; Pitteloud, Nelly 分享 收藏
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 父母中18号染色体的周向反转导致表型正常的孩子具有节段性单亲二体18 Kariminejad, Ariana; Kariminejad, Roxana; Moshtagh, Azadeh; Zanganeh, Maryam; Kariminejad, Mohammad Hassan; Neuenschwander, Stefan; Okoniewski, Michal; Wey, Eva; Schinzel, Albert; Baumer, Alessandra 分享 收藏
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 Sharp, Andrew J.; Migliavacca, Eugenia; Dupre, Yann; Stathaki, Elisavet; Sailani, Mohammad Reza; Baumer, Alessandra; Schinzel, Albert; Mackay, Deborah J.; Robinson, David O.; Cobellis, Gilda; Cobellis, Luigi; Brunner, Han G.; Steiner, Bernhard; Antonarakis, Stylianos E. 分享 收藏
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects OFCD和Lenz小眼症综合征，智力低下伴眼部异常和心脏偏侧性缺陷患者的BCOR分析 Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, Francois-Guillaume; Dastot-Le-Moal, Florence; Gerard, Marion; Martin, Josiane; Bitoun, Pierre; Goossens, Michel; Verloes, Alain; Schinzel, Albert; Bartholdi, Deborah; Bardakjian, Tanya; Hay, Beverly; Jenny, Kim; Johnston, Kathreen; Lyons, Michael; Belmont, John W.; Biesecker, Leslie G.; Giurgea, Irina; Black, Graeme 分享 收藏
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frederique; Gagos, Sarantis; Gehrig, Corinne; Lopez, Gipsy; Schinzel, Albert; Lespinasse, James; Bottani, Armand; Dahoun, Sophie; Taine, Laurence; Doco-Fenzy, Martine; Cornillet-Lefebvre, Pascale; Pelet, Anna; Lyonnet, Stanislas; Toutain, Annick; Colleaux, Laurence; Horst, Juergen; Kennerknecht, Ingo; Wakamatsu, Nobuaki; Descartes, Maria; Franklin, Judy C.; Florentin-Arar, Lina; Kitsiou, Sophia; Yahya-Graison, Emilie Ait; Costantine, Maher; Sinet, Pierre-Marie; Delabar, Jean M.; Antonarakis, Stylianos E. 分享 收藏
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes Bartholdi, D.; Krajewska-Walasek, M.; Ounap, K.; Gaspar, H.; Chrzanowska, K. H.; Ilyana, H.; Kayserili, H.; Lurie, I. W.; Schinzel, A.; Baumer, A. 分享 收藏
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches Koolen, David A.; Sistermans, Erik A.; Nilessen, Willy; Knight, Samantha J. L.; Regan, Regina; Liu, Yan T.; Kooy, R. Frank; Rooms, Liesbeth; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; van Kessel, Ad Geurts; Nordenskjold, Magnus; de Vries, Bert B. A. 分享 收藏
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations Witsch-Baumgartner, M.; Schwentner, I.; Gruber, M.; Benlian, P.; Bertranpetit, J.; Bieth, E.; Chevy, F.; Clusellas, N.; Estivill, X.; Gasparini, G.; Giros, M.; Kelley, R. I.; Krajewska-Walasek, M.; Menzel, J.; Miettinen, T.; Ogorelkova, M.; Rossi, M.; Scala, I.; Schinzel, A.; Schmidt, K.; Schoenitzer, D.; Seemanova, E.; Sperling, K.; Syrrou, M.; Talmud, P. J.; Wollnik, B.; Krawczak, M.; Labuda, D.; Utermann, G. 分享 收藏
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation Rossi, E.; Riegel, M.; Messa, J.; Gimelli, S.; Maraschio, P.; Ciccone, R.; Stroppi, M.; Riva, P.; Perrotta, C. S.; Mattina, T.; Memo, L.; Baumer, A.; Kucinskas, V.; Castellan, C.; Schinzel, A.; Zuffardi, O. 分享 收藏
Cryptic deletions are a common finding in balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients De Gregori, M.; Ciccone, R.; Magini, P.; Pramparo, T.; Gimelli, S.; Messa, J.; Novara, F.; Vetro, A.; Rossi, E.; Maraschio, P.; Bonaglia, M. C.; Anichini, C.; Ferrero, G. B.; Silengo, M.; Fazzi, E.; Zatterale, A.; Fischetto, R.; Previdere, C.; Belli, S.; Turci, A.; Calabrese, G.; Bernardi, F.; Meneghelli, E.; Riegel, M.; Rocchi, M.; Guerneri, S.; Lalatta, F.; Zelante, L.; Romano, C.; Fichera, Ma; Mattina, T.; Arrigo, G.; Zollino, M.; Giglio, S.; Lonardo, F.; Bonfante, A.; Ferlini, A.; Cifuentes, F.; Van Esch, H.; Backx, L.; Schinzel, A.; Vermeesch, J. R.; Zuffardi, O. 分享 收藏
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