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1

Meldonium improves Huntington’s disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expression

Di Cristo, Francesca, Finicelli, Mauro, Digilio, Filomena Anna, Paladino, Simona, Valentino, Anna, Scialò, Filippo, D’Apolito, Maria, Saturnino, Carmela, Galderisi, Umberto, Giordano, Antonio, Melone,

Journal:

Journal of Cellular Physiology

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

2

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with ocular involvement and autistic traits

Pascolini, Giulia, Agolini, Emanuele, Majore, Silvia, Novelli, Antonio, Grammatico, Paola, Digilio, Maria Cristina

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 1017 KB

english, 2018

3

Effective cryopreservation approach for andean potato shoot tip in vitro culture

Digilio, Ariana, Molina-García, Antonio D., Deladino, Lorena, Teixeira, Aline Schneider

Journal:

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

4

Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

Digilio, Maria Cristina, Marino, Bruno, Ammirati, Antonio, Borzaga, Umberto, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 77 KB

english, 1999

5

Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene

Anna Sarkozy, Giorgia Esposito, Antonio Pizzuti, Bruno Dallapiccola, Emanuela Conti, Rita Mingarelli, Bruno Marino, Maria Cristina Digilio, Vincenzo Paoletti

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 39 KB

english, 2003

6

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

Anna Sarkozy, Emanuela Conti, Rita D'Agostino, Maria Cristina Digilio, Roberto Formigari, Fernando Picchio, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 51 KB

english, 2005

7

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

Anna Sarkozy, Giorgia Esposito, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Raffaele Calabrò, Antonio Pizzuti, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

8

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

Anna Sarkozy, Francesca Lepri, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

9

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes

Anna Sarkozy, Annalisa Schirinzi, Francesca Lepri, Irene Bottillo, Alessandro De Luca, Antonio Pizzuti, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 75 KB

english, 2007

10

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

Maria Cristina Digilio, Laura Bernardini, Rita Mingarelli, Rossella Capolino, Anna Capalbo, Maria Grazia Giuffrida, Paolo Versacci, Antonio Novelli, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 202 KB

english, 2009

11

Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature

Nicola Specchio, Antonio Carotenuto, Marina Trivisano, Simona Cappelletti, Cristina Digilio, Rossella Capolino, Matteo Di Capua, Lucia Fusco, Federico Vigevano

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 674 KB

english, 2011

12

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, Maria Grazia Giuffrida, Valentina Guida, Anwar Baban, Paolo Versacci, Rossella Capolino, Barbara Torres, Alessandro De Luca, Antonio Novelli,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 13.76 MB

english, 2011

13

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

M. Cristina Digilio, Giuseppe Pacileo, Anna Sarkozy, Giuseppe Limongelli, Emanuela Conti, Fabiana Cerrato, Bruno Marino, Antonio Pizzuti, Raffaele Calabrò, Bruno Dallapiccola

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2004

Language:

english

File:

PDF, 301 KB

english, 2004

14

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Antonio Pizzuti, Anna Sarkozy, Anthea L. Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino, Merlin Crossley, Bruno Dallapic

Journal:

Year:

2003

Language:

english

File:

PDF, 177 KB

english, 2003

15

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Antonio Pizzuti, Anna Sarkozy, Anthea L. Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino, Merlin Crossley, Bruno Dallapic

Journal:

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

16

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Ertel, Adam, Fortina, Paolo, Bernardini, Laura, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Bottillo, Irene, Battaglia, Agatino, Digilio, Maria Cristina, Zampino, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 709 KB

english, 2009

17

16p subtelomeric duplication: a clinically recognizable syndrome

Digilio, Maria Cristina, Bernardini, Laura, Capalbo, Anna, Capolino, Rossella, Gagliardi, Maria Giulia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 235 KB

english, 2009

18

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

Amati, Francesca, Conti, Emanuela, Novelli, Antonio, Bengala, Mario, Digilio, Maria Cristina, Marino, Bruno, Giannotti, Aldo, Gabrielli, Orazio, Novelli, Giuseppe, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 416 KB

english, 1999

19

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

Conti, Emanuela, Grifone, Nicoletta, Sarkozy, Anna, Tandoi, Caterina, Marino, Bruno, Digilio, Maria Cristina, Mingarelli, Rita, Pizzuti, Antonio, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 80 KB

english, 2003

20

The Chitinase A from the baculovirus AcMNPV enhances resistance to both fungi and herbivorous pests in tobacco

Giandomenico Corrado, Stefania Arciello, Paolo Fanti, Luisa Fiandra, Antonio Garonna, Maria Cristina Digilio, Matteo Lorito, Barbara Giordana, Francesco Pennacchio, Rosa Rao

Journal:

Transgenic Research

Year:

2008

Language:

english

File:

PDF, 501 KB

english, 2008

21

Tosca:ADrosophilaGene Encoding a Nuclease Specifically Expressed in the Female Germline

Filomena A. Digilio, Antonio Pannuti, John C. Lucchesi, Maria Furia, Lino C. Polito

Journal:

Developmental Biology

Year:

1996

Language:

english

File:

PDF, 713 KB

english, 1996

22

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 289 KB

english, 2002

23

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sarkozy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bru

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 895 KB

english, 2006

24

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

Digilio, M. Cristina, Bernardini, Laura, Consoli, Federica, Lepri, Francesca R., Giuffrida, M. Grazia, Baban, Anwar, Surace, Cecilia, Ferese, Rosangela, Angioni, Adriano, Novelli, Antonio, Marino, Bru

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 507 KB

english, 2013

25

Hypopigmented skin patches in 17q21.31 microdeletion syndrome

Digilio, Maria C., Bernardini, Laura, Capolino, Rossella, Digilio, Marina, Dentici, Maria L., Novelli, Antonio, Dallapiccola, Bruno

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 236 KB

english, 2014

26

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

Digilio, M. Cristina, Versacci, Paolo, Bernardini, Laura, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 239 KB

english, 2015

27

A Dictionary of Colorby A. Maerz; M. A. Paul

Review by: Rolf Singer and Antonio P. Digilio

Journal:

Year:

1952

Language:

english

File:

PDF, 371 KB

english, 1952

28

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Kamien, Benjamin, Digilio, M. Cristina, Novelli, Antonio, O'Donnell, Sheridan, Bain, Nicole, Meldrum, Cliff, Dudding-Byth, Tracy, Scott, Rodney J., Goel, Himanshu

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 558 KB

english, 2015

29

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

Radio, Francesca Clementina, Digilio, Maria Cristina, Capolino, Rossella, Dentici, Maria Lisa, Unolt, Marta, Alesi, Viola, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 135 KB

english, 2016

30

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome

Alesi, Viola, Dentici, Maria L., Restaldi, Fabrizia, Orlando, Valeria, Liambo, Maria T., Calacci, Chiara, Capolino, Rossella, Digilio, Maria C., Hachem, May El., Novelli, Antonio, Diociaiuti, Andrea,

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1001 KB

english, 2017

31

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

Calcagni, Giulio, Unolt, Marta, Digilio, Maria Cristina, Baban, Anwar, Versacci, Paolo, Tartaglia, Marco, Baldini, Antonio, Marino, Bruno

Journal:

Expert Review of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 974 KB

english, 2017

32

Congenital heart defects in molecularly proven Kabuki syndrome patients

Digilio, Maria Cristina, Gnazzo, Maria, Lepri, Francesca, Dentici, Maria Lisa, Pisaneschi, Elisa, Baban, Anwar, Passarelli, Chiara, Capolino, Rossella, Angioni, Adriano, Novelli, Antonio, Marino, Brun

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 386 KB

english, 2017

33

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

Schirwani, Schaida, Novelli, Antonio, Digilio, Maria Cristina, Bourn, David, Wilson, Valerie, Roberts, Catherine, Dallapiccola, Bruno, Hobson, Emma

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 354 KB

english, 2018

34

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

de Billy, Emmanuel, Strocchio, Luisa, Cacchione, Antonella, Agolini, Emanuele, Gnazzo, Maria, Novelli, Antonio, De Vito, Rita, Capolino, Rossella, Digilio, Maria Cristina, Caruso, Roberta, Mastronuzzi

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 824 KB

english, 2018

35

Effective cryopreservation approach for andean potato shoot tip in vitro culture

Digilio, Ariana, Molina-García, Antonio D., Deladino, Lorena, Teixeira, Aline Schneider

Journal:

Year:

2018

File:

PDF, 55 KB

2018

36

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

Digilio, M. Cristina, Magliozzi, Monia, Di Pede, Alessandra, Valfrè, Laura, Dentici, Maria Lisa, Auriti, Cinzia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 809 KB

english, 2019

37

Novel clinical features associated with Clouston syndrome

Cammarata-Scalisi, Francisco, Rinelli, Martina, Pisaneschi, Elisa, Diociauti, Andrea, Willoughby, Colin E., Avendaño, Andrea, Digilio, Maria C., Novelli, Antonio, Callea, Michele

Journal:

International Journal of Dermatology

Year:

2019

Language:

english

File:

PDF, 627 KB

english, 2019

38

Reviews

Cummins, George B., Kavanagh, F., Singer, Rolf, Digilio, Antonio P., Gilman, Joseph C.

Journal:

Year:

1952

Language:

english

File:

PDF, 2.10 MB

english, 1952

39

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers

Giannantonio, Sara, Agolini, Emanuele, Scorpecci, Alessandro, Anzivino, Roberta, Bellacchio, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Digilio, Maria Cristina, Marsella, Pasquale

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2019

Language:

english

File:

PDF, 1.41 MB

english, 2019

40

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome

Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio

Journal:

Year:

2020

Language:

english

File:

PDF, 554 KB

english, 2020

41

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola,

Journal:

Year:

2020

Language:

english

File:

PDF, 929 KB

english, 2020

42

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

Trivisano, Marina, Rivera, Manuel, Terracciano, Alessandra, Ciolfi, Andrea, Napolitano, Antonio, Pepi, Chiara, Calabrese, Costanza, Digilio, Maria Cristina, Tartaglia, Marco, Curatolo, Paolo, Vigevano

Journal:

Epilepsy & Behavior

Year:

2020

File:

PDF, 1.55 MB

2020

43

22q11.2 deletion (DiGeorge) syndrome: a motherâs open letter

Baldini, Antonio, Digilio, Maria Cristina, Marino, Bruno

Journal:

Year:

2011

File:

PDF, 240 KB

2011

44

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2âyearâold girl

RossiâEspagnet, Maria C., Dentici, Maria L., Pasquini, Luca, Carducci, Chiara, Lucignani, Martina, Longo, Daniela, Agolini, Emanuele, Novelli, Antonio, Gonfiantini, Michaela V., Digilio, Maria C., N

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 3.20 MB

2020