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1

Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

Torrente, Isabella, Mangino, Massimo, Gennarelli, Massimo, Novelli, Giuseppe, Giannotti, Aldo, Vadalà, Pasquale, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 59 KB

english, 1997

2

Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba

M.Cristina Digilio, Rossella Capolino, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 99 KB

english, 2008

3

Can modern biology interpret the mystery of the birth of Christ?

Benagiano, Giuseppe, Dallapiccola, Bruno

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2015

Language:

english

File:

PDF, 184 KB

english, 2015

4

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

Modoni, Anna, DʼAmico, Adele, Dallapiccola, Bruno, Mereu, Maria Lucia, Merlini, Luciano, Pagliarani, Serena, Pisaneschi, Elisa, Silvestri, Gabriella, Torrente, Isabella, Valente, Enza Maria, Lo Monaco

Journal:

Journal of Clinical Neurophysiology

Year:

2011

Language:

english

File:

PDF, 244 KB

english, 2011

5

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

6

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

7

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

8

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

9

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

Francesca Capon, Chiarina Levato, Sabrina Semprini, Antonio Pizzuti, Luciano Merlini, Giuseppe Novelli, Bruno Dallapiccola

Journal:

Year:

1996

Language:

english

File:

PDF, 249 KB

english, 1996

10

Red blood cell adenine nucleotides abnormalities in down syndrome

Vilberto Stocchi, Mauro Magnani, Luigi Cucchiarini, Giuseppe Novelli, Dr. Bruno Dallapiccola, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 294 KB

english, 1985

11

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

12

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

13

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

Gerardo Piacentini, M. Cristina Digilio, Rossella Capolino, Andrea De Zorzi, Alessandra Toscano, Anna Sarkozy, Rita D'Agostino, Maurizio Marasini, M. Giovanna Russo, Bruno Dallapiccola, Bruno Marino

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

14

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

15

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Wilson, Heather L, Crolla, John A, Walker, Dena, Artifoni, Lina, Dallapiccola, Bruno, Takano, Takako, Vasudevan, Pradeep, Huang, Shuwen, Maloney, Vivienne, Yobb, Twila

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 354 KB

english, 2008

16

Guidelines for the appropriate use of genetic tests in infertile couples

Foresta, Carlo, Ferlin, Alberto, Gianaroli, Luca, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 177 KB

english, 2002

17

Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

Digilio, M. Cristina, Dallapiccola, Bruno, Marino, Bruno

Journal:

Pediatric Cardiology

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012

18

Orphanet Journal of Rare Diseases: Launch Editorial

Ségolène Aymé, Bruno Dallapiccola, Dian Donnai

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

19

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

20

KBG syndrome

Francesco Brancati, Anna Sarkozy, Bruno Dallapiccola

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 1.01 MB

english, 2006

21

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

22

Joubert Syndrome and related disorders

Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 1.61 MB

english, 2010

23

The policy of public health genomics in Italy

Simone, Benedetto, Mazzucco, Walter, Gualano, Maria Rosaria, Agodi, Antonella, Coviello, Domenico, Dagna Bricarelli, Francesca, Dallapiccola, Bruno, Di Maria, Emilio, Federici, Antonio, Genuardi, Maur

Journal:

Year:

2013

Language:

english

File:

PDF, 206 KB

english, 2013

24

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

25

The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood

Putignani, Lorenza, Del Chierico, Federica, Petrucca, Andrea, Vernocchi, Pamela, Dallapiccola, Bruno

Journal:

Pediatric Research

Year:

2014

Language:

english

File:

PDF, 481 KB

english, 2014

26

Erythrocytes-Mediated Delivery of Dexamethasone in Steroid-Dependent IBD Patients-A Pilot Uncontrolled Study

Annese, Vito, Latiano, Anna, Rossi, Luigina, Lombardi, Giovanni, Dallapiccola, Bruno, Serafini, Sonia, Damonte, Giancarlo, Andriulli, Angelo, Magnani, Mauro

Journal:

American Journal of Gastroenterology

Year:

2005

Language:

english

File:

PDF, 98 KB

english, 2005

27

Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation

Fortugno, Paola, Josselin, Emmanuelle, Tsiakas, Konstantinos, Agolini, Emanuele, Cestra, Gianluca, Teson, Massimo, Santer, René, Castiglia, Daniele, Novelli, Giuseppe, Dallapiccola, Bruno, Kurth, Ingo

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 10.03 MB

english, 2014

28

Mediterranean Diet and Health: Food Effects on Gut Microbiota and Disease Control

Del Chierico, Federica, Vernocchi, Pamela, Dallapiccola, Bruno, Putignani, Lorenza

Journal:

International Journal of Molecular Sciences

Year:

2014

Language:

english

File:

PDF, 4.73 MB

english, 2014

29

Foodomics as part of the host-microbiota-exposome interplay

Putignani, Lorenza, Dallapiccola, Bruno

Journal:

Journal of Proteomics

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

30

Gut Microbiota Profiling and Gut–Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections

Quagliariello, Andrea, Del Chierico, Federica, Russo, Alessandra, Reddel, Sofia, Conte, Giulia, Lopetuso, Loris R., Ianiro, Gianluca, Dallapiccola, Bruno, Cardona, Francesco, Gasbarrini, Antonio, Puti

Journal:

Frontiers in Microbiology

Year:

2018

Language:

english

File:

PDF, 3.64 MB

english, 2018

31

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

Baban, Anwar, Olivini, Nicole, Lepri, Francesca Romana, Calì, Federica, Mucciolo, Mafalda, Digilio, Maria C., Calcagni, Giulio, di Mambro, Corrado, Dallapiccola, Bruno, Adorisio, Rachele, Novelli, Ant

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1000 KB

english, 2019

32

Potential of multiomics technology in precision medicine

Putignani, Lorenza, Gasbarrini, Antonio, Dallapiccola, Bruno

Journal:

Current Opinion in Gastroenterology

Year:

2019

Language:

english

File:

PDF, 735 KB

english, 2019

33

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

Morbidoni, Valeria, Agolini, Emanuele, Slep, Kevin C, Pannone, Luca, Zuccarello, Daniela, Cassina, Matteo, Grosso, Enrico, Gai, Giorgia, Salviati, Leonardo, Dallapiccola, Bruno, Novelli, Antonio, Mart

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 1.86 MB

2020

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

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

36

Familial deletions of chromosome 22q11

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

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 12 KB

english, 1997

37

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

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

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 232 KB

english, 1997

38

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome

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

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 153 KB

english, 1997

39

Deletion 8p syndrome

Digilio, Maria Cristina, Marino, Bruno, Guccione, Paolo, Giannotti, Aldo, Mingarelli, Rita, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

40

Congenital heart defect in sibs with discordant karyotypes

Digilio, Maria Cristina, Marino, Bruno, Canepa, Salvatore A., Borzaga, Umberto, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 53 KB

english, 1998

41

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

42

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

Digilio, Maria Cristina, Marino, Bruno, Bevilacqua, Maurizio, Musolino, Anna Maria, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 33 KB

english, 1999

43

Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal

Digilio, M. Cristina, Marino, Bruno, Musolino, Anna Maria, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

Year:

2000

Language:

english

File:

PDF, 79 KB

english, 2000

44

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Francesca Capon, Chiarina Levato, Elena Bussaglia, Stefania Lo Cicero, Eduardo F. Tizzano, Monserrat Baiget, Vincenzo Silani, Antonio Pizzuti, Giuseppe Novelli, Bruno Dallapiccola

Journal:

Year:

1996

Language:

english

File:

PDF, 463 KB

english, 1996

45

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Patrizia Maceratesi, Federica Sangiuolo, Giuseppe Novelli, Paolino Ninfali, Mauro Magnani, Juergen K.V. Reichardt, Bruno Dallapiccola

Journal:

Year:

1996

Language:

english

File:

PDF, 364 KB

english, 1996

46

Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity

Massimo Gennarelli, Marco Lucarelli, Paola Amicucci, Silvia Soddu, Giuseppe Novelli, Bruno Dallapiccola

Journal:

Cell Biochemistry and Function

Year:

1998

Language:

english

File:

PDF, 182 KB

english, 1998

47

Heterotaxy with left atrial isomerism in a patient with deletion 18p

Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Roberto Di Donato, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 76 KB

english, 2000

48

Analysis of apoB, HLADQ alpha, and D1S80 polymorphisms in the Italian population using the polymerase chain reaction

Giuseppe Novelli, Aldo Spinella, Massimo Gennarelli, Rita Mingarelli, Bruno Dallapiccola

Journal:

American Journal of Human Biology

Year:

1992

Language:

english

File:

PDF, 440 KB

english, 1992

49

Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene

Carlo Foresta, Andrea Bettella, Alberto Ferlin, Andrea Garolla, Enrico Moro, Fulvia Baldinotti, Paolo Simi, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

50

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

Anna Sarkozy, Rita Mingarelli, Francesco Brancati, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 89 KB

english, 2002