M. L. Giovannucci Uzielli : rechercher sur Z-Library

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1

Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity

Chiurazzi, P., Genuardi, M., Kozak, L., Giovannucci-Uzielli, M. L., Bussani, C., Dagna-Bricarelli, F., Grasso, M., Perroni, L., Sebastio, G., Sperandeo, M. P., Oostra, B. A., Neri, G.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 789 KB

english, 1996

2

Premature ovarian failure (POF) and fragile X premutation females: From POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data

Uzielli, M.L. Giovannucci, Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., Vieri, F., Scarnato, P., Gori, F., Sereni, A.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 69 KB

english, 1999

3

Increased mutagen-induced chromosome damage in patients with transformed laryngeal pre-cancerosis

Oreste Gallo, Roberto Santoro, Silvia Lenzi, Vieri Boddi, Mary Luisa Giovannucci-Uzielli

Journal:

International Journal of Cancer

Année:

1996

Langue:

english

Fichier:

PDF, 490 KB

english, 1996

4

Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system

Ugo Ricci, Ilaria Sani, Silvia Guarducci, Cristina Biondi, Sara Pelagatti, Valentina Lazzerini, Alessandra Brusaferri, Manuela Lapini, Elena Andreucci, Laura Giunti, Maria Luisa Giovannucci Uzielli

Journal:

ELECTROPHORESIS

Année:

2000

Langue:

english

Fichier:

PDF, 271 KB

english, 2000

5

Meiotic origin of two ring chromosomes 18 in a girl with developmental delay

A. Baumer, M.L. Giovannucci Uzielli, S. Guarducci, E. Lapi, B. Röthlisberger, A. Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 90 KB

english, 2002

6

DHPLC analysis of the MECP2 gene in Italian Rett patients

Piero Nicolao, Massimo Carella, Bruno Giometto, Bruno Tavolato, Riccardo Cattin, Maria Luisa Giovannucci-Uzielli, Marcella Vacca, Floriana Della Regione, Stefania Piva, Stefania Bortoluzzi, Paolo Gasp

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 237 KB

english, 2001

7

Pericentric inversion of chromosome 2 and echogenic vasculature in the basal ganglia: A new finding?

Marco Pezzati, Maria Luisa Uzielli Giovannucci, Luca Filippi, Carlo Dani, Firmino F. Rubaltelli

Journal:

Journal of Clinical Ultrasound

Année:

2005

Langue:

english

Fichier:

PDF, 131 KB

english, 2005

8

Analysis of 13 tetrameric short tandem repeat loci in a population of Tuscany (Central Italy) performed by means of an automated infrared sequencer

Ugo Ricci, Ilaria Sani, Laura Giunti, Silvia Guarducci, Silvia Coviello, Maria Luisa Giovannucci Uzielli

Journal:

Forensic Science International

Année:

2002

Langue:

english

Fichier:

PDF, 50 KB

english, 2002

9

Genetic variation at the STR loci D12S391 and CSF1PO in four populations from Austria, Italy, Egypt and Yemen

Michael Klintschar, Ugo Ricci, Nabil Al Hammadi, Barbara Reichenpfader, Alexander Ebner, Maria Luisa Giovannucci Uzielli

Journal:

Forensic Science International

Année:

1998

Langue:

english

Fichier:

PDF, 54 KB

english, 1998

10

Isochromosome not translocation in trisomy 21q21q

M. Grasso, M. L. Giovannucci Uzielli, M. Pierluigi, F. Tavellini, L. Perroni, F. Dagna Bricarelli

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 391 KB

english, 1989

11

Study on the STR TPOX in an Italian and an Austrian population using two different primer pairs and three different electrophoretic methods

U. Ricci, M. Klintschar, F. Neuhuber, M. L. Giovannucci Uzielli

Journal:

International Journal of Legal Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 56 KB

english, 1998

12

Modified primers for D12S391 and a modified silver staining technique

U. Ricci, M. L. Giovannucci Uzielli, M. Klintschar

Journal:

International Journal of Legal Medicine

Année:

1999

Langue:

english

Fichier:

PDF, 106 KB

english, 1999

13

Y-chromosomal STR haplotype in Toscany (central Italy)

U. Ricci, I. Sani, M.L. Giovannucci Uzielli

Journal:

Forensic Science International

Année:

2001

Langue:

english

Fichier:

PDF, 41 KB

english, 2001

14

Analysis of KIT, SCF, and Initial Screening of SLUG in Patients with Piebaldism

Murakami, Tomoko, Hosomi, Naoko, Oiso, Naoki, Giovannucci-Uzielli, Maria Luisa, Aquaron, Robert, Mizoguchi, Masako, Kato, Atsushi, Ishii, Masamitsu, Bitner-Glindzicz, Maria, Barnicoat, Angela, Wilson,

Journal:

The Journal of Investigative Dermatology

Année:

2005

Langue:

english

Fichier:

PDF, 61 KB

english, 2005

15

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

Hermanns, Pia, Giovannucci-Uzielli, Maria L, Galluzzi, Fiorella, Scott, Daryl, Lee, Brendan, Renieri, Alessandra, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea, Mari, Francesca

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 286 KB

english, 2009

16

Identification of mutations in CUL7 in 3-M syndrome

Huber, Céline, Dias-Santagata, Dora, Glaser, Anna, O'Sullivan, James, Brauner, Raja, Wu, Kenneth, Xu, Xinsong, Pearce, Kerra, Wang, Rong, Uzielli, Maria Luisa Giovannucci

Journal:

Nature Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 334 KB

english, 2005

17

Chromosome Mapping of Miller-Diecker, Smith-Magenis and RARA Loci in Non-Human Primates: Implications in the Evolution of Human Chromosome 17

Luca Sineo, Daniela Romagno, Silvia Guarducci, Manuela Lapini, Maria Luisa Giovannucci-Uzielli, Brunetto Chiarelli

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 180 KB

english, 2002

18

Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations

Pamela Magini, Matteo Della Monica, Maria Luisa Giovannucci Uzielli, Patrizia Mongelli, Gloria Scarselli, Eleonora Gambineri, Gioacchino Scarano, Marco Seri

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 202 KB

english, 2012

19

Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities

Audrey Basinko, Maria Luisa Giovannucci Uzielli, Gloria Scarselli, Manuela Priolo, Giuseppina Timpani, Marc De Braekeleer

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 328 KB

english, 2012

20

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints

Cristina Gervasini, Paola Castronovo, Angela Bentivegna, Federica Mottadelli, Francesca Faravelli, Maria Luisa Giovannucci-Uzielli, Alice Pessagno, Emanuela Lucci-Cordisco, Anna Maria Pinto, Leonardo

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 439 KB

english, 2007

21

De novo mutations at D3S1358, D8S1179 and D18S51 loci emerged during paternity testing: confirmation of biological paternal lineage by using a panel of Y-chromosome STRs

U Ricci, N Cerri, I Sani, M Franchi, S Mascadri, F De Ferrari, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2003

Langue:

english

Fichier:

PDF, 61 KB

english, 2003

22

A new duplex PCR system for YCAII and DXYS156Y microsatellites analysis

I Sani, U Ricci, L Giunti, S Guarducci, M Lapini, A Brusaferri, A Lasagni, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2003

Langue:

english

Fichier:

PDF, 66 KB

english, 2003

23

DNA STR typing for forensic use. Two methods and two instruments in comparison: IR-based sequencer and UV-based sequencer

U Ricci, M Klintschar, I Sani, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2003

Langue:

english

Fichier:

PDF, 52 KB

english, 2003

24

Analysis of mitochondrial DNA with an infrared automated DNA sequencer in a Tuscan population (Central Italy)

L Giunti, U Ricci, I Sani, S Guarducci, A Brusaferri, A Lasagni, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2003

Langue:

english

Fichier:

PDF, 144 KB

english, 2003

25

Twin zygosity studies with the formula from DNA-View's Kinship Module after molecular analyses by polymorphic markers

U Ricci, E Lapi, S Guarducci, E Andreucci, C Bacci, B Toschi, C Brenner, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2004

Langue:

english

Fichier:

PDF, 54 KB

english, 2004

26

Validation of STR system FXIIIB for forensic investigation in a population of Central Italy

I Sani, U Ricci, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2004

Langue:

english

Fichier:

PDF, 61 KB

english, 2004

27

The development of two new STR multiplex systems

U Ricci, L Giunti, M.L Giovannucci Uzielli

Journal:

International Congress Series

Année:

2004

Langue:

english

Fichier:

PDF, 90 KB

english, 2004

28

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Carina Wallgren-Pettersson, Kati Donner, Caroline Sewry, Emilia Bijlsma, Martin Lammens, Kate Bushby, Maria Luisa Giovannucci Uzielli, Elisabetta Lapi, Sylvie Odent, Zuhal Akcoren, Haluk Topaloğlu, Ka

Journal:

Neuromuscular Disorders

Année:

2002

Langue:

english

Fichier:

PDF, 227 KB

english, 2002

29

Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families

Frances Goodman, Maria-Luisa Giovannucci-Uzielli, Christine Hall, William Reardon, Robin Winter, Peter Scambler

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 760 KB

english, 1998

30

Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract

F. R. Goodman, S. Mundlos, Y. Muragaki, D. Donnai, M. L. Giovannucci-Uzielli, E. Lapi, F. Majewski, J. McGaughran, C. McKeown, W. Reardon, J. Upton, R. M. Winter, B. R. Olsen and P. J. Scambler

Journal:

Proceedings of the National Academy of Sciences

Année:

1997

Langue:

english

Fichier:

PDF, 1.39 MB

english, 1997

31

The Anterior Segment Anomalies in the Warburg Syndrome: A Study of New Cases

Alfieri, G., Campana, G., Valentini, G., Giovannucci-Uzielli, M. L., Lapi, E.

Journal:

Ophthalmic Genetics

Année:

1985

Langue:

english

Fichier:

PDF, 728 KB

english, 1985

32

Rare oculo-rhino-auditive variants of the branchial arch syndrome Report of three cases with two necropsy records

Klein, D., Giovannucci-Uzielli, M. L., Di Lollo, S., Engel, W., Rehder, H.

Journal:

Ophthalmic Genetics

Année:

1985

Langue:

english

Fichier:

PDF, 1.49 MB

english, 1985

33

Congenital Hypothyroidism in Young-Simpson Syndrome

Stagi, S., Bindi, G., Lapi, E., Giovannucci-Uzielli, M.L., Salti, R., Chiarelli, F.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 926 KB

english, 2008

34

Recurrent ocular defects associated with multiple malformations within the same sibship: A study of three families

Alfieri, G., Campana, G., Valentini, G., Giovannucci-Uzielli, M. L., Lapi, E.

Journal:

Ophthalmic Genetics

Année:

1983

Langue:

english

Fichier:

PDF, 881 KB

english, 1983

35

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes

Ouweland, Ans M.W. van den, Deelen, Wout H., Kunst, Catherine B., Uzielli, Maria-Luisa Giovannucci, Nelson, David L., Warren, Stephen T., Oostra, Ben A., Halley, Dicky J.J.

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 2.43 MB

english, 1994

36

Congenital Microgastria and Primary Ciliary Dyskinesia in a Newborn with DiGeorge Syndrome and 22q11.2 Deletion

Filippi, L., Serafini, L., Fiorini, P., Agostini, E., Giovannucci Uzielli, M.

Journal:

European Journal of Pediatric Surgery

Année:

2008

Langue:

english

Fichier:

PDF, 108 KB

english, 2008

37

Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome

Stagi, Stefano, Bindi, Giuseppe, Silvia Neri, Anna, Giovannucci-Uzielli, Maria Luisa, Lapi, Elisabetta, Galluzzi, Fiorella, Salti, Roberto

Journal:

Clinical Dysmorphology

Année:

2003

Langue:

english

Fichier:

PDF, 128 KB

english, 2003

38

Contribution of Computerized Tomography to the Study of Severe Congenital Ocular Dysplasias

Frosini, R., Papini, M., Campana, G., Uzielli, Giovannucci

Journal:

Ophthalmologica

Année:

1981

Langue:

english

Fichier:

PDF, 856 KB

english, 1981

39

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R. M., Olsen, B. R., Scambler, P

Journal:

Proceedings of the National Academy of Sciences

Année:

1997

Fichier:

PDF, 327 KB

1997

40

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R. M., Olsen, B. R., Scambler, P

Journal:

Proceedings of the National Academy of Sciences

Année:

1997

Langue:

english

Fichier:

PDF, 327 KB

english, 1997

41

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia EhlersâDanlos syndrome

Ayoub, Sandy, Ghali, Neeti, Angwin, Chloe, Baker, Duncan, Baffini, Stella, Brady, Angela F., Giovannucci Uzielli, Maria Luisa, Giunta, Cecilia, Johnson, Diana S., Kosho, Tomoki, Neas, Katherine, Pope,

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Langue:

english

Fichier:

PDF, 2.53 MB

english, 2020