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1

Seizure and EEG Patterns in Angelman's Syndrome

Viani, F., Romeo, A., Viri, M., Mastrangelo, M., Lalatta, F., Selicorni, A., Gobbi, G., Lanzi, G., Bettio, D., Briscioli, V., Di Segni, M., Parini, R., Terzoli, G.

Journal:

Journal of Child Neurology

Year:

1995

Language:

english

File:

PDF, 555 KB

english, 1995

2

Malignant melanoma and Charcot-Marie-Tooth disease: A further case

Manoukian, Siranoush, Briscioli, Vincenza, Lalatta, Faustina

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 43 KB

english, 1997

3

Thomas syndrome: Clinical variability and autosomal recessive inheritance

Briscioli, Vincenza, Lalatta, Faustina, Rizzuti, Tommaso, Fesslová, Vlasta

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 267 KB

english, 1997

4

Spherophakia associated with molybdenum cofactor deficiency

Parini, Rossella, Briscioli, Vincenza, Caruso, Ubaldo, Dorche, Claude, Fortuna, Renato, Minniti, Giuseppe, Selicorni, Angelo, Vismara, Elisabetta, Mancini, Grazia

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 119 KB

english, 1997

5

X-linked mental retardation with marfanoid habitus: First report of four Italian patients

F. Lalatta, E. Livini, A. Selicorni, V. Briscioli, A. Vita, F. Lugo, M. Zollino, F. Gurrieri, G. Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 1.71 MB

english, 1991

6

Variability of the Brachmann-de Lange Syndrome

A. Selicorni, F. Lalatta, E. Livini, V. Briscioli, T. Piguzzi, D. Clerici Bagozzi, P. Mastroiacovo, G. Zampino, G. Gaeta, A. Pugliese, P. Cerutti-Mainaroli, A. Guala, L. Zelante, M. Stabile, S. Belli,

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 561 KB

english, 1993

7

FISH analysis in Prader-Willi and Angelman syndrome patients

Dr. D. Bettio, N. Rizzi, D. Giardino, G. Grugni, V. Briscioli, A. Selicorni, F. Carnevale, L. Larizza

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 495 KB

english, 1995

8

Kaufman oculocerebrofacial syndrome in a girl of 15 years

V. Briscioli, S. Manoukian, A. Selicorni, E. Livini, F. Lalatta

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 346 KB

english, 1995

9

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation

S. Russo, V. Briscioli, F. Cogliati, M. Macchi, F. Lalatta, L. Larizza

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 744 KB

english, 1998

10

A new non-radioactive method for the screening and prenatal diagnosis of myotonic dystrophy patients

Raffaella Brugnoni, Lucia Morandi, Bruno Brambati, Vincenza Briscioli, Ferdinando Cornelio, R. Mantegazza

Journal:

Journal of Neurology

Year:

1998

Language:

english

File:

PDF, 233 KB

english, 1998

11

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

Giardino, Daniela, Finelli, Palma, Gottardi, Giulietta, Clerici, Donata, Mosca, Fabio, Briscioli, Vincenza, Larizza, Lidia

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 336 KB

english, 2001

12

A de novo 6q11—q15 duplication investigated by chromosome painting

D. Giardino, N. Rizzi, V. Briscioli, D. Bettio

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 320 KB

english, 1994

13

L'odontochondrodysplasie

P Maroteaux, V Briscioli, F Lalatta, J Bonaventure

Journal:

Archives de Pédiatrie

Year:

1996

Language:

english

File:

PDF, 549 KB

english, 1996

14

Trisomy 10qter confirmed by in situ hybridisation.

Briscioli, V, Floridia, G, Rossi, E, Selicorni, A, Lalatta, F, Zuffardi, O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 816 KB

english, 1993