CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report von Angelopoulou, Eleni, Theodosiou, Athina, Papaevripidou, Ioannis, Alexandrou, Angelos, Liehr, Thomas, Gyftodimou, Yolanda, Stefanou, Eunice G., Sismani, Carolina

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle von Deardorff, Matthew A., Bando, Masashige, Nakato, Ryuichiro, Watrin, Erwan, Itoh, Takehiko, Minamino, Masashi, Saitoh, Katsuya, Komata, Makiko, Katou, Yuki, Clark, Dinah, Cole, Kathryn E., De Baere, Elfride, Decroos, Christophe, Di Donato, Nataliya, Ernst, Sarah, Francey, Lauren J., Gyftodimou, Yolanda, Hirashima, Kyotaro, Hullings, Melanie, Ishikawa, Yuuichi, Jaulin, Christian, Kaur, Maninder, Kiyono, Tohru, Lombardi, Patrick M., Magnaghi-Jaulin, Laura, Mortier, Geert R., Nozaki, Naohito, Petersen, Michael B., Seimiya, Hiroyuki, Siu, Victoria M., Suzuki, Yutaka, Takagaki, Kentaro, Wilde, Jonathan J., Willems, Patrick J., Prigent, Claude, Gillessen-Kaesbach, Gabriele, Christianson, David W., Kaiser, Frank J., Jackson, Laird G., Hirota, Toru, Krantz, Ian D., Shirahige, Katsuhiko

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Prenatal diagnosis of glycogen storage disease type IV von Akman, H. Orhan, Karadimas, Charalampos, Gyftodimou, Yolanda, Grigoriadou, Maria, Kokotas, Haris, Konstantinidou, Anastasia, Anninos, Hector, Patsouris, Efstratios, Thaker, Harshwardhan M., Kaplan, Jeffrey B., Besharat, Isaam, Hatzikonstantinou, Konstantina, Fotopoulos, Spyridon, DiMauro, Salvatore, Petersen, Michael B.

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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome von Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne

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Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome von Dimitriadou, Meropi, Christoforidis, Athanasios, Sarri, Catherine, Gyftodimou, Yolanda, Athanassiou-Metaxa, Miranda

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A new COL1A1 mutation in a Greek patient with osteogenesis imperfecta: Response to a low-dose protocol of zoledronic acid and two-year follow-up von Sarantis, Michail, Kollia, Panagoula, Samara, Stavroula, Athanasopoulou, Helen, Gyftodimou, Yolanda, Lianou, Dimitra, Mpourazani, Evdoxia, Doulgeraki, Artemis

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A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2 von Siomou, Elisavet, Manolakos, Emmanouil, Petersen, Michael, Thomaidis, Loretta, Gyftodimou, Yolanda, Orru, Sandro, Papoulidis, Ioannis

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Pure de novo partial trisomy 6p in a girl with craniosynostosis von Varvagiannis, Konstantinos, Stefanidou, Amalia, Gyftodimou, Yolanda, Lord, Helen, Williams, Louise, Sarri, Catherine, Pandelia, Efi, Bazopoulou‐Kyrkanidou, Euterpe, Noakes, Charlotte, Lester, Tracy, Wilkie, Andrew O.M., Petersen, Michael B.

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35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome von Sarri, Catherine, Douzgou, Sofia, Kontos, Haris, Anagnostopoulou, Katherine, Tümer, Zeynep, Grigoriadou, Maria, Petersen, Michael B., Kokotas, Haris, Merou, Konstantina, Pandelia, Efi, Giouroukou, Elena, Papanikolaou, Katerina, Côté, Gilbert B., Gyftodimou, Yolanda

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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome von Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne

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Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes von Sarri, Catherine, Douzgou, Sofia, Gyftodimou, Yolanda, Tümer, Zeynep, Ravn, Kirstine, Pasparaki, Angela, Sarafidou, Theologia, Kontos, Harry, Kokotas, Haris, Karadima, Georgia, Grigoriadou, Maria, Pandelia, Effie, Theodorou, Virginia, Moschonas, Nicholas K., Petersen, Michael B.

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Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss von Kokotas, Haris, Grigoriadou, Maria, Yang, Li, Lodahl, Marianne, Rendtorff, Nanna Dahl, Gyftodimou, Yolanda, Korres, George S, Ferekidou, Elisabeth, Kandiloros, Dimitrios, Korres, Stavros, Tranebjærg, Lisbeth, Guan, Min-Xin, Petersen, Michael B

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Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population von Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, d'Adamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, Giannoulia-Karantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, Petersen, Michael B.

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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 von Zollino, Marcella, Lecce, Rosetta, Murdolo, Marina, Orteschi, Daniela, Marangi, Giuseppe, Selicorni, Angelo, Midro, Alina, Sorge, Giovanni, Zampino, Giuseppe, Memo, Luigi, Battaglia, Domenica, Petersen, Michael, Pandelia, Effie, Gyftodimou, Yolanda, Faravelli, Francesca, Tenconi, Romano, Garavelli, Livia, Mazzanti, Laura, Fischetto, Rita, Cavalli, Pietro, Savasta, Salvatore, Rodriguez, Laura, Neri, Giovanni

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De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features von Kolaitis, Gerasimos, Papanikolaou, Katerina, Paliokosta, Elena, Tsiantis, John, Gyftodimou, Yolanda, Sarri, Catherine, Petersen, Michael, Kokotas, Haris

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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 von Zollino, Marcella, Lecce, Rosetta, Murdolo, Marina, Orteschi, Daniela, Marangi, Giuseppe, Selicorni, Angelo, Midro, Alina, Sorge, Giovanni, Zampino, Giuseppe, Memo, Luigi, Battaglia, Domenica, Petersen, Michael, Pandelia, Effie, Gyftodimou, Yolanda, Faravelli, Francesca, Tenconi, Romano, Garavelli, Livia, Mazzanti, Laura, Fischetto, Rita, Cavalli, Pietro, Savasta, Salvatore, Rodriguez, Laura, Neri, Giovanni

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CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report von Angelopoulou, Eleni, Theodosiou, Athina, Papaevripidou, Ioannis, Alexandrou, Angelos, Liehr, Thomas, Gyftodimou, Yolanda, Stefanou, Eunice G, Sismani, Carolina

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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6 von ZOLLINO, Marcella, LECCE, Rosetta, BATTAGLIA, Domenica, PETERSEN, Michael, PANDELIA, Effie, GYFTODIMOU, Yolanda, FARAVELLI, Francesca, TENCONI, Romano, GARAVELLI, Livia, MAZZANTI, Laura, FISCHETTO, Rita, CAVALLI, Pietro, MURDOLO, Marina, SAVASTA, Salvatore, RODRIGUEZ, Laura, NERI, Giovanni, ORTESCHI, Daniela, MARANGI, Giuseppe, SELICORNI, Angelo, MIDRO, Alina, SORGE, Giovanni, ZAMPINO, Giuseppe, MEMO, Luigi

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De novo 393kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features von Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B., Gyftodimou, Yolanda, Manolakos, Emmanouil

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De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features von Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B, Gyftodimou, Yolanda, Manolakos, Emmanouil

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