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1

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Linds

Journal:

Biological Psychiatry

Year:

2018

Language:

english

File:

PDF, 5.36 MB

english, 2018

2

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fat

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 820 KB

english, 2018

3

SKIN-PICKING: THE BEST CUTANEOUS FEATURE IN THE RECOGNIZATION OF PRADER-WILLI SYNDROME

CARMELO SCHEPIS, PINELLA FAILLA, MADDALENA SIRAGUSA, CORRADO ROMANO

Journal:

International Journal of Dermatology

Year:

1994

Language:

english

File:

PDF, 2.33 MB

english, 1994

4

EuroSCORE II Versus Additive and Logistic EuroSCORE in Patients Undergoing Percutaneous Coronary Intervention

Capodanno, Davide, Dipasqua, Fabio, Marcantoni, Carmelita, Ministeri, Margherita, Zanoli, Luca, Rastelli, Stefania, Romano, Gaetano, Sanfilippo, Maria, Tamburino, Corrado

Journal:

The American Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 598 KB

english, 2013

5

One-pot conversion of 6-hydroxy-.DELTA.7-iridoid glucosides into cis-2-oxabicyclo[3.3.0]oct-7-enes and transformation into Corey's lactone analog

Bonini, Carlo, Iavarone, Carlo, Trogolo, Corrado, Di Fabio, Romano

Journal:

Journal of Organic Chemistry

Year:

1985

Language:

english

File:

PDF, 502 KB

english, 1985

6

Assessment of thermal evolution of Paleozoic successions of the Holy Cross Mountains (Poland)

Schito, A., Corrado, S., Trolese, M., Aldega, L., Caricchi, C., Cirilli, S., Grigo, D., Guedes, A., Romano, C., Spina, A., Valentim, B.

Journal:

Marine and Petroleum Geology

Year:

2017

Language:

english

File:

PDF, 3.83 MB

english, 2017

7

Decision Analytic Markov Model Weighting Expected Benefits and Current Limitations of First-Generation Bioresorbable Vascular Scaffolds

Capodanno, Davide, Buccheri, Sergio, Romano, Sara, Capranzano, Piera, Francaviglia, Bruno, Tamburino, Corrado

Journal:

Circulation Cardiovascular Interventions

Year:

2018

Language:

english

File:

PDF, 1.78 MB

english, 2018

8

Downregulation of glutamic acid decarboxylase in Drosophila TDP-43-null brains provokes paralysis by affecting the organization of the neuromuscular synapses

Romano, Giulia, Holodkov, Nikola, Klima, Raffaella, Grilli, Federica, Guarnaccia, Corrado, Nizzardo, Monica, Rizzo, Federica, Garcia, Rodolfo, Feiguin, Fabian

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 4.21 MB

english, 2018

9

Comparing optical and Raman spectroscopic investigations of phytoclasts and sporomorphs for thermal maturity assessment: The case study of Hettangian continental facies in the Holy cross Mts. (central Poland)

Schito, A., Spina, A., Corrado, S., Cirilli, S., Romano, C.

Journal:

Marine and Petroleum Geology

Year:

2019

Language:

english

File:

PDF, 59.16 MB

english, 2019

10

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin, Patricia H. Birch, Bruce R. Korf, Romano Tenconi, Michihito Niimura, Minna Poyhonen, Kim Armfield Uhas, Mauro Sigorini, Raffaele Virdis, Corrado Romano, Eugenio Bonioli, Pierre Wolkenst

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 110 KB

english, 2000

11

Ichthyosis and neutral lipid storage disease

Prof. Salvatore Musumeci, Alfonsina D'Agata, Corrado Romano, Rosario Patané, Domenico Cutrona, Giovanni Neri, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 415 KB

english, 1988

12

Seizures in patients with trisomy 21

Corrado Romano, Alessandra Tiné, Grazia Fazio, Renata Rizzo, Rosa Maria Colognola, Giovanni Sorge, Paolo Bergonzi, Lorenzo Pavone

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 268 KB

english, 1990

13

RFLP analysis in 5 Sicilian families with the fragile X syndrome

Valentino Romano, Gaetano Mascali, Valeria Chiaveta, Rosa Maria Ragusa, Cosimo Barletta, Corrado Romano, Florindo Mollica, Teresa Mattina, Anne Gross, W. Ted Brown, Carl S. Dobkin, Charles Ferrando

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 145 KB

english, 1991

14

Phenotypic and phoniatric findings in mosaic cri du chat syndrome

Corrado Romano, Rosa Maria Ragusa, Franco Scillato, Donatella Greco, Giuseppe Amato, Cosimo Barletta

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 548 KB

english, 1991

15

Growth hormone subnormality in down syndrome

Letizia Ragusa, Corrado Romano, Pinella Failla, Caterina Proto, Fabio Colabucci

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 127 KB

english, 1992

16

Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

Paolo Bosco, Rosa-Maria Guéant-Rodriguez, Guido Anello, Concetta Barone, Farès Namour, Filippo Caraci, Antonino Romano, Corrado Romano, Jean-Louis Guéant

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 72 KB

english, 2003

17

12q12 deletion: A new patient contributing to genotype–phenotype correlation

Pinella Failla, Corrado Romano, Santina Reitano, Daniela Di Benedetto, Lucia Grillo, Marco Fichera, Lucia Castiglia

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 121 KB

english, 2008

18

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Serena Lattante, Marina Murdolo, Bruno Dallapiccola, Chiara Biscione, Rosetta Lecce, Pietro Chiurazzi, Corrado Romano, Donatella Greco, Rosa Pet

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 806 KB

english, 2011

19

Safety and effectiveness of drug eluting stent in patients with ST elevation myocardial infarction undergoing primary angioplasty

Michele Romano, Francesca Buffoli, Luca Tomasi, Lettieri Corrado, Maria Rosa Ferrari, Roberto Zanini

Journal:

Catheterization and Cardiovascular Interventions

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

20

ChemInform Abstract: Novel Imidazobenzazepine Derivatives as Dual H1/5-HT2A Antagonists for the Treatment of Sleep Disorders.

Massimo Gianotti, Corrado Corti, Sonia Delle Fratte, Romano Di Fabio, Colin P. Leslie, Francesca Pavone, Laura Piccoli, Luigi Stasi, Mark J. Wigglesworth

Journal:

Year:

2011

File:

PDF, 24 KB

2011

21

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

Luciana Musante, Stella-Amrei Kunde, Tina O. Sulistio, Ute Fischer, Astrid Grimme, Suzanna G.M. Frints, Charles E. Schwartz, Francisco Martínez, Corrado Romano, Hans-Hilger Ropers, Vera M. Kalscheuer

Journal:

Year:

2010

Language:

english

File:

PDF, 373 KB

english, 2010

22

Prevalence and clinical significance of circulating cryoglobulins in HIV-positive patients with and without Co-infection with hepatitis C virus

Paolo Fabris, Giulia Tositti, Maria Teresa Giordani, Luisa Romanò, Corrado Betterle, Elena Pignattari, Cinzia Tagliaferri, Paolo Muratori, Vinicio Manfrin, Fausto de Lalla

Journal:

Journal of Medical Virology

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

23

Corticospinal excitability during motor imagery of a simple tonic finger movement in patients with writer's cramp

Angelo Quartarone, Sergio Bagnato, Vincenzo Rizzo, Francesca Morgante, Antonino Sant'Angelo, Domenica Crupi, Marcello Romano, Corrado Messina, Alfredo Berardelli, Paolo Girlanda

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 152 KB

english, 2005

24

Improved instrument for mercury determination by atomic fluorescence spectrometry with a high-frequency electrodeless discharge lamp

Romano Ferrara, Alfredo Seritti, Corrado Barghigiani, Antonio Petrosino

Journal:

Analytica Chimica Acta

Year:

1980

Language:

english

File:

PDF, 407 KB

english, 1980

25

Mercury levels in the dissolved and particulate fractions of the Tyrrhenian sea

Romano Ferrara, Alfredo Seritti, Corrado Barghigiani, Antonio Petrosino

Journal:

Marine Chemistry

Year:

1986

Language:

english

File:

PDF, 354 KB

english, 1986

26

The bodies of two missing children in an enclosed underground environment

Francesco Introna, Antonio De Donno, Valeria Santoro, Simona Corrado, Vito Romano, Francesco Porcelli, Carlo P. Campobasso

Journal:

Forensic Science International

Year:

2011

Language:

english

File:

PDF, 642 KB

english, 2011

27

Novel imidazobenzazepine derivatives as dual H1/5-HT2A antagonists for the treatment of sleep disorders

Massimo Gianotti, Corrado Corti, Sonia Delle Fratte, Romano Di Fabio, Colin P. Leslie, Francesca Pavone, Laura Piccoli, Luigi Stasi, Mark J. Wigglesworth

Journal:

Bioorganic & Medicinal Chemistry Letters

Year:

2010

Language:

english

File:

PDF, 515 KB

english, 2010

28

Cardiofaciocutaneous (CFC) syndrome

Carmelo Schepis, Donatella Greco, Corrado Romano

Journal:

Australasian Journal of Dermatology

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

29

Rubinstein–Taybi Syndrome with Epidermal Nevus: A Case Report

Carmelo Schepis, Donatella Greco, Maddalena Siragusa, Dario Batolo, Corrado Romano

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 815 KB

english, 2001

30

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

Vincenza Barresi, Angela Ragusa, Marco Fichera, Nicolò Musso, Lucia Castiglia, Giancarlo Rappazzo, Salvatore Travali, Teresa Mattina, Corrado Romano, Guido Cocchi, Daniele F Condorelli

Journal:

BMC Medical Genomics

Year:

2010

Language:

english

File:

PDF, 701 KB

english, 2010

31

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

Marco Fichera, Margherita Silengo, Angela Spalletta, Mariangela Lo Giudice, Corrado Romano, Angela Ragusa

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

32

Nanoscale amorphization, bending and recrystallization in silicon nanowires

Emanuele F. Pecora, Alessia Irrera, Simona Boninelli, Lucia Romano, Corrado Spinella, Francesco Priolo

Journal:

Applied Physics A: Materials Science & Processing

Year:

2011

Language:

english

File:

PDF, 710 KB

english, 2011

33

Evidence for non-homologous end joining and non-allelic homologous recombination in atypicalNF1microdeletions

Marco Venturin, Cristina Gervasini, Francesca Orzan, Angela Bentivegna, Lucia Corrado, Patrizia Colapietro, Alessandra Friso, Romano Tenconi, Meena Upadhyaya, Lidia Larizza, Paola Riva

Journal:

Year:

2004

Language:

english

File:

PDF, 894 KB

english, 2004

34

Results, Outcome Predictors, and Complications after Stapled Transanal Rectal Resection for Obstructed Defecation

Giuseppe Gagliardi, Mario Pescatori, Donato F. Altomare, Gian Andrea Binda, Corrado Bottini, Giuseppe Dodi, Vincenzino Filingeri, Giovanni Milito, Marcella Rinaldi, Giovanni Romano, Liana Spazzafumo,

Journal:

Diseases of the Colon & Rectum

Year:

2008

Language:

english

File:

PDF, 184 KB

english, 2008

35

SPANX-BandSPANX-C(Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes

Michele Salemi, Corrado Romano, Concetta Barone, Francesco Calí, Filippo Caraci, Carmelo Romano, Cataldo Scavuzzo, Francesco Scillato, Maria Grazia Salluzzo, Maria Piccione, Manuela Martines, Giovanni

Journal:

Journal of Genetics

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

36

Copper complexing capacity of phytoplanktonic cell exudates

Alfredo Seritti, David Pellegrini, Elisabetta Morelli, Corrado Barghigiani, Romano Ferrara

Journal:

Marine Chemistry

Year:

1986

Language:

english

File:

PDF, 334 KB

english, 1986

37

Synthesis and pharmacological characterisation of 2,4-Dicarboxy-pyrroles as selective non-Competitive mGluR1 antagonists

Fabrizio Micheli, Romano Di Fabio, Paolo Cavanni, Joseph M Rimland, Anna Maria Capelli, Cristiano Chiamulera, Mauro Corsi, Corrado Corti, Daniele Donati, Aldo Feriani, Francesco Ferraguti, Micaela Maf

Journal:

Bioorganic & Medicinal Chemistry

Year:

2003

Language:

english

File:

PDF, 394 KB

english, 2003

38

CUTANEOUS FINDINGS IN THE MENTALLY RETARDED

CARMELO SCHEPIS, CORRADO ROMANO

Journal:

International Journal of Dermatology

Year:

1996

Language:

english

File:

PDF, 8.09 MB

english, 1996

39

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Carmelo Schepis, Donatella Greco, Maddalena Siragusa, Corrado Romano

Journal:

International Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

40

Hypomelanosis of Ito: A syndrome requiring a multisystem approach

Pinella Failla, Corrado Romano, Carmelo Schepis

Journal:

Australasian Journal of Dermatology

Year:

1997

Language:

english

File:

PDF, 3.56 MB

english, 1997

41

Failure of fluoxetine to modify the skin-picking behaviour of Prader-Willi syndrome

Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Rosaria Palazzo, Corrado Romano

Journal:

Australasian Journal of Dermatology

Year:

1998

Language:

english

File:

PDF, 145 KB

english, 1998

42

LOCALIZED ELASTOSIS PERFORANS SERPIGINOSA IN A BOY WITH DOWN SYNDROME

MADDALENA SIRAGUSA, CORRADO ROMANO, VITTORIO CAVALLARI, CARMELO SCHEPIS

Journal:

Pediatric Dermatology

Year:

1997

Language:

english

File:

PDF, 336 KB

english, 1997

43

An Intriguing Case of LEOPARD Syndrome

Carmelo Schepis, Donatella Greco, Maddalena Siragusa, Dario Batolo, Corrado Romano

Journal:

Pediatric Dermatology

Year:

1998

Language:

english

File:

PDF, 667 KB

english, 1998

44

6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

Maurizio Elia, Pasquale Striano, Marco Fichera, Roberto Gaggero, Lucia Castiglia, Ornella Galesi, Michela Malacarne, Mauro Pierluigi, Carmelo Amato, Sebastiano A. Musumeci, Corrado Romano, Silvia Majo

Journal:

Year:

2006

Language:

english

File:

PDF, 467 KB

english, 2006

45

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

46

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

Raynaud, Martine, Dessay, Sabine, Ronce, Nathalie, Opitz, John, Pembrey, Marcus, Romano, Corrado, Moraine, Claude, Briault, Sylvain

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

47

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

Romano, Corrado, Knight, Samantha J L, Martin, Christa Lese, de Vries, Bert B A

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

48

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

Koolen, David A, Sistermans, Erik A, Nilessen, Willy, Knight, Samantha J L, Regan, Regina, Liu, Yan T, Kooy, R Frank, Rooms, Liesbeth, Romano, Corrado, Fichera, Marco

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

49

Hexarelin protects H9c2 cardiomyocytes from doxorubicin-induced cell death

Nicoletta Filigheddu, Alberto Fubini, Gianluca Baldanzi, Santina Cutrupi, Corrado Ghè, Filomena Catapano, Fabio Broglio, Amalia Bosia, Mauro Papotti, Giampiero Muccioli, Ezio Ghigo, Romano Deghenghi,

Journal:

Endocrine (Springer)

Year:

2001

Language:

english

File:

PDF, 131 KB

english, 2001

50

Prognostic implications of early and long-term bleeding events in patients on one-year dual antiplatelet therapy following drug-eluting stent implantation

Giuseppe Musumeci, Roberta Rossini, Corrado Lettieri, Davide Capodanno, Michele Romano, Renato Rosiello, Giulio Guagliumi, Orazio Valsecchi, Antonello Gavazzi, Dominick J. Angiolillo

Journal:

Catheterization and Cardiovascular Interventions

Year:

2012

Language:

english

File:

PDF, 401 KB

english, 2012

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