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1

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Renzo Guerrini, Paolo Bonanni, Nardo Nardocci, Lucio Parmeggiani, Massimo Piccirilli, Maurizio De Fusco, Paolo Aridon, Andrea Ballabio, Romeo Carrozzo, Giorgio Casari

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 245 KB

english, 1999

2

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

Carrozzo, Romeo, Arrigo, Giulia, Rossi, Elena, Bardoni, Barbara, Cammarata, Marina, Gandullia, Paolo, Gatti, Rosanna, Zuffardi, Orsetta

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 277 KB

english, 1997

3

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

Renzo Guerrini, Jennifer L. Shanahan, Romeo Carrozzo, Paolo Bonanni, Douglas R. Higgs, Richard J. Gibbons

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 7.36 MB

english, 2000

4

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

Maria Clara Bonaglia, Roberto Giorda, Romeo Carrozzo, Maria Elena Roncoroni, Rita Grasso, Renato Borgatti, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

5

Megalocornea and mental retardation syndrome: Two new cases

Dr. Ennio Del Giudice, Renata Sartorio, Alfonso Romano, Romeo Carrozzo, Generoso Andria, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 217 KB

english, 1987

6

De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization

Elizabeth A. Lindsay, Lisa G. Shaffer, Romeo Carrozzo, Frank Greenberg, Antonio Baldini

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 446 KB

english, 1995

7

Epilepsy and genetic malformations of the cerebral cortex

Renzo Guerrini, Romeo Carrozzo

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 354 KB

english, 2001

8

The genetics of epilepsy

Fiorella Gurrieri, Romeo Carrozzo

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 48 KB

english, 2001

9

Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism

Daniela Bettio, Erin L. Baldwin, Romeo Carrozzo, Aglaia Vignoli, Lorraine May, Anna Venci, David H. Ledbetter

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

10

Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations

Renzo Guerrini, Francesca Moro, Eva Andermann, Elaine Hughes, Daniela D'Agostino, Romeo Carrozzo, Andrea Bernasconi, Frances Flinter, Lucio Parmeggiani, Anna Volzone, Elena Parrini, Davide Mei, Jozef

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 146 KB

english, 2003

11

Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II)

Romeo Carrozzo, Rossana Tonlorenzi, Fabio Corsolini, Rosanna Gatti

Journal:

Year:

1996

Language:

english

File:

PDF, 192 KB

english, 1996

12

Human piebaldism: six novel mutations of the proto-oncogene KIT

Petros Syrris, Kirsten Heathcote, Romeo Carrozzo, Koen Devriendt, Nursel Elçioglu, Christine Garrett, Meriel McEntagart, Nicholas D. Carter

Journal:

Year:

2002

Language:

english

File:

PDF, 127 KB

english, 2002

13

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

Marco F Manzoni, Tiziano Pramparo, Antonella Stroppolo, Flavio Chiaino, Emanuele Bosi, Orsetta Zuffardi, Romeo Carrozzo

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 102 KB

english, 2000

14

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient

Stefano Regis, Romeo Carrozzo, Mirella Filocamo, Gigliola Serra, Camillo Mastropaolo, Rosanna Gatti

Journal:

Year:

1995

Language:

english

File:

PDF, 561 KB

english, 1995

15

Reciprocal translocations: a trap for cytogenetists?

Roberto Ciccone, Roberto Giorda, Giuliana Gregato, Renzo Guerrini, Sabrina Giglio, Romeo Carrozzo, Maria Clara Bonaglia, Emanuela Priolo, Carmelo Laganà, Romano Tenconi, Mariano Rocchi, Tiziano Prampa

Journal:

Year:

2005

Language:

english

File:

PDF, 629 KB

english, 2005

16

Chromosome 20 Ring: A Chromosomal Disorder Associated with a Particular Electroclinical Pattern

Maria Paola Canevini, Vincenzo Sgro, Orsetta Zuffardi, Raffaele Canger, Romeo Carrozzo, Elena Rossi, David Ledbetter, Fabio Minicucci, Aglaia Vignoli, Ada Piazzini, Loredana Guidolin, Amalia Saltarell

Journal:

Year:

1998

Language:

english

File:

PDF, 1.36 MB

english, 1998

17

Psychoneuroimmunology in Oral Biology and Medicine : The Model of Oral Lichen Planus

PAOLO PROLO, FRANCESCO CHIAPPELLI, ELAINA CAJULIS, JANET BAUER, SUSAN SPACKMAN, HORACIO ROMEO, MARCO CARROZZO, SERGIO GANDOLFO, RUSSELL CHRISTENSEN

Journal:

Annals of the New York Academy of Sciences

Year:

2002

Language:

english

File:

PDF, 141 KB

english, 2002

18

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Franco, Brunella, Guioli, Silvana, Pragliola, Antonella, Incerti, Barbara, Bardoni, Barbara, Tonlorenzi, Rossana, Carrozzo, Romeo, Maestrini, Elena, Pieretti, Maura, Taillon-Miller, Patricia

Journal:

Year:

1991

File:

PDF, 1006 KB

1991

19

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

Reiner, Orly, Carrozzo, Romeo, Shen, Ying, Wehnert, Manfred, Faustinella, Fabrizia, Dobyns, William B., Caskey, C. Thomas, Ledbetter, David H.

Journal:

Year:

1993

File:

PDF, 793 KB

1993

20

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

Giglio, Sabrina, Pirola, Barbara, Arrigo, Giulia, Dagrada, Paolo, Bardoni, Barbara, Bernardi, Franca, Russo, Giovanni, Argentiero, Luisa, Forabosco, Antonino, Carrozzo, Romeo

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 401 KB

english, 2000

21

A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers

Renata Sartorio, Luigi Greco, Romeo Carrozzo, Cristiana Budillon, Generoso Andria

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 332 KB

english, 1988

22

Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq

A. Ballabio, R. Carrozzo, A. Gil, B. Gillard, N. Affara, M. A. Fferguson-Smith, N. Fraser, I. Craig, M. Rocchi, G. Romeo, G. Andria

Journal:

Annals of Human Genetics

Year:

1989

Language:

english

File:

PDF, 639 KB

english, 1989

23

LIS2,Gene and Pseudogene, Homologous toLIS1(Lissencephaly 1), Located on the Short and Long Arms of Chromosome 2

Orly Reiner, Irit Bar-Am, Tamar Sapir, Orit Shmueli, Romeo Carrozzo, Elizabeth A. Lindsay, Antonio Baldini, David H. Ledbetter, Aviv Cahana

Journal:

Year:

1995

Language:

english

File:

PDF, 253 KB

english, 1995

24

The β and γ Subunits of the Human Platelet-Activating Factor Acetyl Hydrolase Isoform Ib (PAFAH1B2 and PAFAH1B3) Map to Chromosome 11q23 and 19q13.1, Respectively

Francesca Moro, Giulia Arrigo, Antonella Fogli, Loris Bernard, Romeo Carrozzo

Journal:

Year:

1998

Language:

english

File:

PDF, 196 KB

english, 1998

25

Early signs of vascular disease in homocystinuria: A noninvasive study by ultrasound methods in eight families with cystathionine-β-synthase deficiency

Paolo Rubba, Fulvio Faccenda, Paolo Pauciullo, Luciano Carbone, Mario Mancini, Pietro Strisciuglio, Romeo Carrozzo, Renata Sartorio, Ennio del Guidice, Generoso Andria

Journal:

Year:

1990

Language:

english

File:

PDF, 631 KB

english, 1990

26

Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance

Renzo Guerrini, Anna Belmonte, Romeo Carrozzo

Journal:

Brain and Development

Year:

1998

Language:

english

File:

PDF, 148 KB

english, 1998

27

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

Renzo Guerrini, Romeo Carrozzo

Journal:

Year:

2001

Language:

english

File:

PDF, 543 KB

english, 2001

28

Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome

Romeo Carrozzo, Elena Rossi, Susan L. Christian, Kirk Kittikamron, Chiara Livieri, Andrea Corrias, Lucia Pucci, Alberto Fois, Laura Bosio, Paolo Simi, Luciano Beccaria, Orsetta Zuffardi, David H. Ledb

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 143 KB

english, 1997

29

Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene

Carrozzo, Romeo, Ellison, Jay, Yen, Pauline, Taillon-Miller, Patricia, Brownstein, Bernard H., Persico, Graziella, Ballabio, Andrea, Shapiro, Larry

Journal:

Year:

1992

Language:

english

File:

PDF, 1.04 MB

english, 1992

30

Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints

Bernatowicz, Lynne F., Li, Xiao-Miao, Carrozzo, Romeo, Ballabio, Andrea, Mohandas, Thuluvancheri, Yen, Pauline H., Shapiro, Larry J.

Journal:

Year:

1992

Language:

english

File:

PDF, 275 KB

english, 1992

31

Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis

A. Ballabio, G. Parenti, R. Carrozzo, G. Sebastio, G. Andria, V. Buckle, N. Fraser, I. Craig, M. Rocchi, G. Romeo, A. C. Jobsis and M. G. Persico

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 887 KB

english, 1987

32

Angelman Syndrome

Professor Renzo Guerrini,Romeo Carrozzo,Roberta Rinaldi,Paolo Bonanni

Journal:

Paediatric Drugs

Year:

2003

File:

PDF, 619 KB

2003

33

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)

Carrozzo, Romeo, Ledbetter, David H.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 93 KB

english, 1993

34

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

Ballabio, A., Parenti, G., Carrozzo, R., Sebastio, G., Andria, G., Buckle, V., Fraser, N., Craig, I., Rocchi, M., Romeo, G.

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 1.10 MB

english, 1987

35

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

Guerrini, Renzo, Shanahan, Jennifer L., Carrozzo, Romeo, Bonanni, Paolo, Higgs, Douglas R., Gibbons, Richard J.

Journal:

Annals of Neurology

Year:

2000

File:

PDF, 77 KB

2000

36

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

Guerrini, Renzo, Shanahan, Jennifer L., Carrozzo, Romeo, Bonanni, Paolo, Higgs, Douglas R., Gibbons, Richard J.

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 77 KB

english, 2000

37

Encyclopedia of Life Sciences || Development: Disorders

Carrozzo, Romeo

Year:

2001

Language:

english

File:

PDF, 70 KB

english, 2001