Maria Cristina Digilio: search on Z-Library

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1

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

Giuseppe Limongelli, Silvia Russo, Maria Cristina Digilio, Maura Masciadri, Giuseppe Pacileo, Fiorella Fratta, Francesca Martone, Valeria Maddaloni, Raffaella D'Alessandro, Paolo Calabro, Maria Giovan

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

2

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefa

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1007 KB

english, 2014

3

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins

Digilio, Maria Cristina, Marino, Bruno, Giannico, Salvatore, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

Year:

1999

Language:

english

File:

PDF, 87 KB

english, 1999

4

Impact of genetic studies on comprehension and treatment of congenital heart disease

Alicandro, Tatiana, Putotto, Carolina, Calcagni, Giulio, Unolt, Marta, Mastromoro, Gioia, Digilio, Maria Cristina, Versacci, Paolo, Marino, Bruno

Journal:

Progress in Pediatric Cardiology

Year:

2018

Language:

english

File:

PDF, 617 KB

english, 2018

5

Nonrandom association of atrioventricular canal and del (8p) syndrome

M.D. Bruno Marino, Antonino Reale, Aldo Giannotti, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 322 KB

english, 1992

6

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D’Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi, Adriano Angioni

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 3.06 MB

english, 2011

7

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

D'Asdia, Maria Cecilia, Torrente, Isabella, Consoli, Federica, Ferese, Rosangela, Magliozzi, Monia, Bernardini, Laura, Guida, Valentina, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, De

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 166 KB

english, 2013

8

KBG syndrome in a cohort of Italian patients

Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, Anna Sarkozy, Massimo Biondi, Davide De Brasi, Rita Mingarelli, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 211 KB

english, 2004

9

Leopard syndrome

Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 1.36 MB

english, 2008

10

Acro-cardio-facial syndrome

Maria Cristina Digilio, Bruno Dallapiccola

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 521 KB

english, 2010

11

Noonan syndrome and aortic coarctation

Digilio, Maria Cristina, Marino, Bruno, Picchio, Fernando, Prandstraller, Daniela, Toscano, Alessandra, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

12

Tricuspid atresia and 22q11 deletion

Marino, Bruno, Digilio, Maria Cristina, Novelli, Giuseppe, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

13

Do interactions between plant roots and the rhizosphere affect parasitoid behaviour?

Emilio Guerrieri, Guido Lingua, Maria Cristina Digilio, Nadia Massa, Graziella Berta

Journal:

Ecological Entomology

Year:

2004

Language:

english

File:

PDF, 109 KB

english, 2004

14

Atrioventricular canal defect without Down syndrome: A heterogeneous malformation

Digilio, Maria Cristina, Marino, Bruno, Toscano, Alessandra, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 89 KB

english, 1999

15

Defining language disorders in children and adolescents with Noonan Syndrome

Lazzaro, Giulia, Caciolo, Cristina, Menghini, Deny, Cumbo, Francesca, Digilio, Maria C., Capolino, Rossella, Zampino, Giuseppe, Tartaglia, Marco, Vicari, Stefano, Alfieri, Paolo

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 601 KB

2020

16

Atrioventricular Canal Defect and Postaxial Polydactyly Indicating Phenotypic Overlap of Ellis-van Creveld and Kaufman-McKusick Syndromes

Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Bruno Dallapiccola

Journal:

Pediatric Cardiology

Year:

1997

Language:

english

File:

PDF, 16 KB

english, 1997

17

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

18

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

Calcagni, Giulio, Digilio, Maria Cristina, Marino, Bruno, Tartaglia, Marco

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 528 KB

english, 2019

19

Development and nutrition of the braconid wasp, Aphidius ervi in aposymbiotic host aphids

Francesco Pennacchio, Paolo Fanti, Patrizia Falabella, Maria Cristina Digilio, Faustino Bisaccia, Ermenegildo Tremblay

Journal:

Archives of Insect Biochemistry and Physiology

Year:

1999

Language:

english

File:

PDF, 343 KB

english, 1999

20

Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

Maria Cristina Digilio, Rossella Capolino, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

21

Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman

Giuseppe Limongelli, Giuseppe Pacileo, Daniela Melis, Paolo Calabro', Maria Cristina Digilio, Anna Sarkozy, Valeria Maddaloni, Giovanni Capozzi, Gianfranco Sebastio, Generoso Andria, Raffaele Calabro'

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

22

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

23

Transposition of the great arteries associated with deletion of chromosome 22q11

Salvatore Melchionda, Maria Cristina Digilio, Rita Mingarelli, Giuseppe Novelli, Peter Scambler, Bruno Marino, Bruno Dallapiccola

Journal:

The American Journal of Cardiology

Year:

1995

Language:

english

File:

PDF, 1.99 MB

english, 1995

24

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

25

Transcriptome and Metabolome Reprogramming in Tomato Plants by Trichoderma harzianum strain T22 Primes and Enhances Defense Responses Against Aphids

Coppola, Mariangela, Diretto, Gianfranco, Digilio, Maria Cristina, Woo, Sheridan Lois, Giuliano, Giovanni, Molisso, Donata, Pennacchio, Francesco, Lorito, Matteo, Rao, Rosa

Journal:

Frontiers in Physiology

Year:

2019

Language:

english

File:

PDF, 2.58 MB

english, 2019

26

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

Adriano Carotti, Maria Cristina Digilio, Gerardo Piacentini, Claudia Saffirio, Roberto M. Di Donato, Bruno Marino

Journal:

Development Diabilities Research Reviews

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

27

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 218 KB

english, 2009

28

Thyroid Morphology and Subclinical Hypothyroidism in Children and Adolescents with Williams Syndrome

Paola Cambiaso, Cinzia Orazi, Maria Cristina Digilio, Sandro Loche, Rossella Capolino, Alberto Tozzi, Antonella Faedda, Marco Cappa

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

29

The heart and shell. Anatomical and genetic similarities

Paolo Versacci, Maria Cristina Digilio, Marco Oliverio, Bruno Dallapiccola, Bruno Marino

Journal:

American Heart Journal

Year:

2011

Language:

english

File:

PDF, 316 KB

english, 2011

30

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

Francesca Amati, Aldo Mari, Rita Mingarelli, Massimo Gennarelli, Maria Cristina Digilio, Aldo Giannotti, Bruno Marino, Giuseppe Novelli, Dr. Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 436 KB

english, 1995

31

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

32

Familial recurrence of transposition of the great arteries

Maria Cristina Digilio, Bruno Marino, Elena Banaudi, Maurizio Marasini, Bruno Dallapiccola

Journal:

Year:

1998

Language:

english

File:

PDF, 46 KB

english, 1998

33

Long-term follow-up in Stuve–Wiedemann syndrome

Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Cambiaso, Paola, Rana, Ippolita, Digilio, Maria Cristina, Bartuli, Andrea

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 188 KB

english, 2014

34

The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes

Digilio, Maria Cristina, Marino, Bruno, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

35

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

36

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management

Giuseppe Limongelli, Giuseppe Pacileo, Maria Cristina Digilio, Paolo Calabro', Giovanni Di Salvo, Alessandra Rea, Tiziana Miele, Alessandro Frigiola, Anna Sarkozy, Bruno Dallapiccola, Bruno Marino, Ra

Journal:

International Journal of Cardiology

Year:

2008

Language:

english

File:

PDF, 1.23 MB

english, 2008

37

Tomato Below Ground–Above Ground Interactions: Trichoderma longibrachiatum Affects the Performance of Macrosiphum euphorbiae and Its Natural Antagonists

Battaglia, Donatella, Bossi, Simone, Cascone, Pasquale, Digilio, Maria Cristina, Prieto, Juliana Duran, Fanti, Paolo, Guerrieri, Emilio, Iodice, Luigi, Lingua, Guido, Lorito, Matteo, Maffei, Massimo E

Journal:

Molecular Plant-Microbe Interactions

Year:

2013

Language:

english

File:

PDF, 509 KB

english, 2013

38

Host regulation and nutritional exploitation by parasitic wasps

Pennacchio, Francesco, Caccia, Silvia, Digilio, Maria Cristina

Journal:

Current Opinion in Insect Science

Year:

2014

Language:

english

File:

PDF, 647 KB

english, 2014

39

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

Massimo Gennarelli, Giuseppe Novelli, Maria Cristina Digilio, Aldo Giannotti, Bruno Marino, Bruno Dallapiccola

Journal:

Year:

1994

Language:

english

File:

PDF, 166 KB

english, 1994

40

Interactions between Bt -expressing tomato and non-target insects: the aphid Macrosiphum euphorbiae and its natural enemies

Digilio, Maria Cristina, Sasso, Raffaele, Di Leo, Maria Grazia, Iodice, Luigi, Monti, Maurilia Maria, Santeramo, Raffaella, Arpaia, Salvatore, Guerrieri, Emilio

Journal:

Journal of Plant Interactions

Year:

2012

Language:

english

File:

PDF, 375 KB

english, 2012

41

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

Di Cesare, Silvia, Puliafito, Pamela, Ariganello, Paola, Marcovecchio, Genni Enza, Mandolesi, Martina, Capolino, Rossella, Digilio, Maria Cristina, Aiuti, Alessandro, Rossi, Paolo, Cancrini, Caterina

Journal:

Pediatric Allergy and Immunology

Year:

2015

Language:

english

File:

PDF, 163 KB

english, 2015

42

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

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

Familial recurrence of transposition of the great arteries and intact ventricular septum

Digilio, Maria Cristina, Marino, Bruno, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 20 KB

english, 1997

45

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

46

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: Postulated involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Bruno Dallapiccola, John M. Opitz

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

47

Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

Giuseppe Limongelli, Giuseppe Pacileo, Bruno Marino, Maria Cristina Digilio, Anna Sarkozy, Perry Elliott, Paolo Versacci, Paolo Calabro, Andrea De Zorzi, Giovanni Di Salvo, Petros Syrris, Michael Patt

Journal:

The American Journal of Cardiology

Year:

2007

Language:

english

File:

PDF, 385 KB

english, 2007

48

Deletion 22q11 in patients with interrupted aortic arch

Bruno Marino, Maria Cristina Digilio, Monica Persiani, Roberto Di Donato, Alessandra Toscano, Aldo Giannotti, Bruno Dallapiccola

Journal:

The American Journal of Cardiology

Year:

1999

Language:

english

File:

PDF, 65 KB

english, 1999

49

Larval anatomy and structure of absorbing epithelia in the aphid parasitoid Aphidius ervi Haliday (Hymenoptera, Braconidae)

Magda de Eguileor, Annalisa Grimaldi, Gianluca Tettamanti, Roberto Valvassori, Maria Giovanna Leonardi, Barbara Giordana, Ermenegildo Tremblay, Maria Cristina Digilio, Francesco Pennacchio

Journal:

Arthropod Structure & Development

Year:

2001

Language:

english

File:

PDF, 1.67 MB

english, 2001

50

JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

Digilio, Maria Cristina, Luca, Alessandro De, Lepri, Francesca, Guida, Valentina, Ferese, Rosangela, Dentici, Maria Lisa, Angioni, Adriano, Marino, Bruno, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 123 KB

english, 2013

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