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Papers authored by Teresa Mattina

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2013 De Souza, Mauren Abreu de Souza, Catherine McAllister, Michael Suttie, Concetta Perrotta, Teresa Mattina

ORCID

, Francesca Faravelli, Francesca Forzano, Anthony Holland, Peter Hammond

Growth hormone, gender and face shape in Prader-Willi syndrome.

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O. Palumbo, T. Mattina

ORCID

, P. Palumbo, Massimo Carella, C. S. Perrotta

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome

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2012 Inge Heulens, Michael Suttie, Andreï Postnov, Nora De Clerck, Cs Perrotta, Teresa Mattina

ORCID

, Francesca Faravelli, Francesca Forzano, Rf Kooy, R. Frank Kooy, Frank Kooy, Peter Hammond

Craniofacial characteristics of fragile X syndrome in mouse and man.

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Teresa Mattina

ORCID

, Orazio Palumbo, Raffaella Stallone, Rita Maria Pulvirenti, Laura Di Dio, Piero Pavone

ORCID

, Massimo Carella, Lorenzo Pavone

Interstitial 16p13.3 microduplication: Case report and critical review of genotype-phenotype correlation

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Lucia Spicuzza, Concetta Sciuto, Lucia Di Dio, Teresa Mattina

ORCID

, Salvatore Leonardi, Michele Miraglia del Giudice

ORCID

, Mario La Rosa

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

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2011 Matteo della Monica, Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Loviglio Mn, Maria N. Loviglio, Silengo Mc, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V. D'Addetta, Elga Belligni, D'Addetta Ev and 33 other authors

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2010 Teresa Mattina

ORCID

[Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion].

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Vincenza Barresi, Angela Ragusa, Marco Fichera, Nicolò Musso, Lucia Castiglia, Giancarlo Rappazzo, Salvatore Travali, Teresa Mattina

ORCID

, Corrado Romano

ORCID

, Guido Cocchi, Daniele F. Condorelli

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

G. M. Palano, F. Licata, C. Carpinato, F. Sottile, R. Sciuto, T. Mattina

ORCID

, G. Distefano

Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion,Coartazione aortica con ipoplasia dell'arco in una neonata con trisomia parziale 11q associata a delezione interstiziale 4q

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L. Pavone, A. le Pira, M. Caruso, P. Pavone, O. Palumbo, M. Carella, T. Mattina

ORCID

A new cause of ambiguous genitalia: Multiple malformation syndrome related to an unbalanced translocation [46,XY t(7;16)]

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L. Pavone, M. Caruso, A. le Pira, P. Pavone, O. Palumbo, M. Carella, T. Mattina

ORCID

A new cause of ambiguous genitalia: Multiple malformation Syndrome related to an unbalanced translocation

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2009 Maoqing Ye, Chris Coldren, Xingqun Liang, Teresa Mattina

ORCID

, Elizabeth Goldmuntz, D. Woodrow Benson, D. Woodrow Benson, Dunbar Ivy, M. B. Perryman, Lee Ann Garrett-Sinha, Paul Grossfeld

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

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Teresa Mattina

ORCID

, Concetta Simona Perrotta, Paul Grossfeld

Jacobsen syndrome

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I. Lombardo, A. Le Pira, S. Salafia, P. Pavone, T. Mattina

ORCID

Multiple malformations in a patient with unbalanced translocation 46,XY T(7;16) and ambiguous genitalia

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2008 C. D. Coldren, Z. Lai, P. Shragg, E. Rossi, S. C. Glidewell, O. Zuffardi, T. Mattina

ORCID

, D. D. Ivy, L. M. Curfs, S. N. Mattson

ORCID

, E. P. Riley, M. Treier, P. D. Grossfeld

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

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T. Mattina

ORCID

, L. Conti, G. Milone, S. Marino, G. Sorge

Inv(8)(p23q22) and recombinant derivative in a Sicilian family

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T. Mattina

ORCID

, G. Milana, A. D'Agata, L. Conti, F. Sciacca

Unstable translocations: a new case?

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2007 E. Rossi, J. Messa, M. Riegel, S. Gimelli, R. Ciccone, P. Maraschio, P. Riva

ORCID

, M. Stroppi, T. Mattina

ORCID

, C. S. Perrotta, L. Memo, A. Baumer, V. Kucinskas, C. Castellan, A. Schinzel and 1 other authors

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

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Mm M. Hagleitner, A. Lankester, P. Maraschio, M. Hulten, A. Hultén, Jp P. Fryns, C. Schuetz, G. Gimelli, Eg G. Davies, A. Gennery, Bh H. Belohradsky, Gr De, R. de Groot, Ronald De Groot, Ej J. A. Gerritsen and 15 other authors

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

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Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Bonaglia Mc, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, Paola Maraschio, M. C. Bonaglia, C. Anichini, Ferrero Gb, G. B. Ferrero and 33 other authors

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

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