Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype
Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo
Published in Italian journal of pediatrics (27.04.2009)
Published in Italian journal of pediatrics (27.04.2009)
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MECP2 duplication in a patient with congenital central hypoventilation
Belligni, Elga F., Palmer, Rodger W., Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
Maini, Ilenia, Ivanovski, Ivan, Iodice, Alessandro, Rosato, Simonetta, Pollazzon, Marzia, Mussini, Manuela, Belligni, Elga F., Coutton, Charles, Marinelli, Maria, Barbieri, Veronica, Napoli, Manuela, Pascarella, Rosario, Sartori, Chiara, Madia, Francesca, Fusco, Carlo, Franchi, Fabrizia, Street, Maria E., Garavelli, Livia
Published in Molecular syndromology (01.11.2016)
Published in Molecular syndromology (01.11.2016)
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Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems
Belligni, Elga F, Hennekam, Raoul C.M
Published in European journal of medical genetics (01.07.2010)
Published in European journal of medical genetics (01.07.2010)
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Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
Belligni, Elga F, Dokal, Inderjeet, Hennekam, Raoul C.M
Published in European journal of medical genetics (01.05.2011)
Published in European journal of medical genetics (01.05.2011)
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