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ArticlesPeer ReviewedFull Text
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Author / Creator:Zollino, Marcella ; Orteschi, Daniela ; Murdolo, Marina ; Lattante, Serena ; Battaglia, Domenica ; Stefanini, Chiara ; Mercuri, Eugenio ; Chiurazzi, Pietro ; Neri, Giovanni ; Marangi, Giuseppe
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.636-638
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ArticlesPeer ReviewedFull Text
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Author / Creator:Cafiero, Concetta ; Marangi, Giuseppe ; Orteschi, Daniela ; Ali, Marwan ; Asaro, Alessia ; Ponzi, Emanuela ; Moncada, Alice ; Ricciardi, Stefania ; Murdolo, Marina ; Mancano, Giorgia ; Contaldo, Ilaria ; Leuzzi, Vincenzo ; Battaglia, Domenica ; Mercuri, Eugenio ; Slavotinek, Anne M ; Zollino, Marcella
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1499-1504
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ArticlesPeer ReviewedFull Text
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
Author / Creator:Zollino, Marcella ; Marangi, Giuseppe ; Ponzi, Emanuela ; Orteschi, Daniela ; Ricciardi, Stefania ; Lattante, Serena ; Murdolo, Marina ; Battaglia, Domenica ; Contaldo, Ilaria ; Mercuri, Eugenio ; Stefanini, Maria Chiara ; Caumes, Roseline ; Edery, Patrick ; Rossi, Massimiliano ; Piccione, Maria ; Corsello, Giovanni ; Della Monica, Matteo ; Scarano, Francesca ; Priolo, Manuela ; Gentile, Mattia ; Zampino, Giuseppe ; Vijzelaar, Raymon ; Abdulrahman, Omar ; Rauch, Anita ; Oneda, Beatrice ; Deardorff, Matthew A ; Saitta, Sulagna C ; Falk, Marni J ; Dubbs, Holly ; Zackai, Elaine
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-12, Vol.52 (12), p.804-814
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ArticlesPeer ReviewedFull Text
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1
Author / Creator:Midro, Alina T. ; Zollino, Marcella ; Wiland, Ewa ; Panasiuk, Barbara ; Iwanowski, Piotr S. ; Murdolo, Marina ; Śmigiel, Robert ; Sąsiadek, Maria ; Pilch, Jacek ; Kurpisz, Maciej
Publisher:New York: Springer US
Journal title:Journal of assisted reproduction and genetics, 2016-02, Vol.33 (2), p.189-197
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ArticlesPeer ReviewedFull Text
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
Author / Creator: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
Publisher:Germany: Springer
Journal title:Human genetics, 2007-12, Vol.122 (5), p.423-430
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ArticlesPeer ReviewedFull Text
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12
Author / Creator:Lecce, Rosetta ; Murdolo, Marina ; Gelli, Gianfranco ; Steindl, Katharina ; Coppola, Livia ; Romano, Anna ; Cupelli, Elisa ; Neri, Giovanni ; Zollino, Marcella
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2006-02, Vol.118 (6), p.760-766
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ArticlesPeer ReviewedFull Text
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome
Author / Creator:Zollino, Marcella ; Lecce, Rosetta ; Selicorni, Angelo ; Murdolo, Marina ; Mancuso, Irene ; Marangi, Giuseppe ; Zampino, Giuseppe ; Garavelli, Livia ; Ferrarini, Alessandra ; Rocchi, Mariano ; Opitz, John M ; Neri, Giovanni
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.797-804
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ArticlesPeer ReviewedFull Text
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2008-04, Vol.123 (3), p.319-319
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ArticlesPeer ReviewedFull Text
Trisomy 12p and Monosomy 4p: Phenotype–Genotype Correlation
Author / Creator:Benussi, Daniela Gambel ; Costa, Paola ; Zollino, Marcella ; Murdolo, Marina ; Petix, Vincenzo ; Carrozzi, Marco ; Pecile, Vanna
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing and molecular biomarkers, 2009-04, Vol.13 (2), p.199-204
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ArticlesPeer ReviewedFull Text
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6
Author / Creator: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
Publisher:Berlin: Springer
Journal title:Human genetics, 2007, Vol.122 (5), p.423-430
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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

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Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1

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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

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The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12

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A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

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Trisomy 12p and Monosomy 4p: Phenotype–Genotype Correlation

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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6

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