Bricarelli, F. D.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families

Perroni, L., Grasso, M., Argusti, A., Nigro, C. Lo, Croci, G. F., Zelante, L., Garani, G. P., Bricarelli, F. Dagna

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 411 KB

english, 1996

2

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing

L. Perroni, F. Faravelli, R. Cusano, F. Forzano, P. De Cassan, C. Baldo, F. Dagna Bricarelli

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

3

LAK activity is inducible in blood mononuclear cells from human fetus

Andrea Cossarizza, Daniela Monti, Franca Dagna-Bricarelli, Giuliano Montagnani, Claudio Franceschi

Journal:

Immunology Letters

Year:

1990

Language:

english

File:

PDF, 299 KB

english, 1990

4

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

5

Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

Dallapiccola, B., Bricarelli, Franca Dagna, Quartino, A. Rasore, Mazzilli, Maria Cristina, Chisci, Rosanna, Gandini, E.

Journal:

Acta geneticae medicae et gemellologiae: twin research

Year:

1978

Language:

english

File:

PDF, 8.71 MB

english, 1978

6

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

Grasso, M., Perroni, L., Colella, S., Piombo, G., Argusti, A., Lituania, M., Buscaglia, M., Giussani, U., Grimoldi, M. G., Bricarelli, F. Dagna

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 344 KB

english, 1996

7

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

Year:

1996

Language:

english

File:

PDF, 789 KB

english, 1996

8

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe

Grasso, Marina, Perroni, Lucia, Dagna-Bricarelli, Franca, Rinaldi, Antoniettina, Robledo, Renato, Siniscalco, Marcello, Filippi, Giorgio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 378 KB

english, 1996

9

FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes

Giardino, D., Bettio, D., Gottardi, G., Rizzi, N., Pierluigi, M., Perfumo, C., Cal�, A., Dagna Bricarelli, F., Larizza, L.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 280 KB

english, 1999

10

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in theFMR1 gene in eight fragile X patients

Grasso, M., Faravelli, F., Nigro, C. Lo, Chiurazzi, P., Sperandeo, M.P., Argusti, A., Pomponi, M.G., Lecora, M., Sebastio, G.F., Perroni, L., Andria, G., Neri, G., Bricarelli, F. Dagna

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.18 MB

english, 1999

11

Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of down syndrome children during the acute phase of AML(M7)

Jane H. Ives, Franca Dagna-Bricarelli, Giuseppe Basso, Stylianos E. Antonarakis, Roger Jee, Finbarr Cotter, Dean Nižetić

Journal:

Genes, Chromosomes and Cancer

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

12

Crossing over and chromosome 21 nondisjunction: A study of 60 families

L. Perroni, Dr. F. Dagna Bricarelli, M. Grasso, M. Pierluigi, M. Baldi, C. Pedemonte, P. Strigini

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 730 KB

english, 1990

13

Origin of extra chromosome 21 in 343 families: Cytogenetic and molecular approaches

Dr. F. Dagna Bricarelli, M. Pierluigi, M. Grasso, P. Strigini, L. Perroni

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 425 KB

english, 1990

14

Effect of X-rays on chromosome 21 nondisjunction

Dr. P. Strigini, M. Pierluigi, G. L. Forni, R. Sansone, S. Carobbi, M. Grasso, F. Dagna Bricarelli

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 562 KB

english, 1990

15

Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations

Giorgio Filippi, Araxy Arslanian, Franca Dagna-Bricarelli, Mauro Pierluigi, Marina Grasso, Antoniettina Rinaldi, Mariano Rocchi, Marcello Siniscalco

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 800 KB

english, 1991

16

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

Francesca Faravelli, Marina Murdolo, Giuseppe Marangi, Franca Dagna Bricarelli, Maja Di Rocco, Marcella Zollino

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

17

Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

Massimiliano Cecconi, Francesca Forzano, Livia Garavelli, Chiara Pantaleoni, Marina Grasso, Franca Dagna Bricarelli, Lucia Perroni, Emilio Di Maria, Francesca Faravelli

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 188 KB

english, 2008

18

Psychomotor development in Cri du Chat Syndrome

Paola Cerruti Mainardi, Andrea Guala, Guido Pastore, Gloria Pozzo, Franca Dagna Bricarelli, Mauro Pierluigi

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 139 KB

english, 2000

19

Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q

Simona Cavani, Chiara Perfumo, Alessandra Argusti, Mauro Pierluigi, Lucia Perroni, Kjeld Schmiegelow, Michael B. Petersen, Finbarr E. Cotter, Paolo Strigini, Franca Dagna-Bricarelli, Dean NižetiĆ

Journal:

British Journal of Haematology

Year:

1998

Language:

english

File:

PDF, 1.47 MB

english, 1998

20

Familial Infantile Myoclonic Epilepsy: Clinical Features in a Large Kindred with Autosomal Recessive Inheritance

Fabrizio A. De Falco, Luigi Majello, Roberto Santangelo, Mariano Stabile, Franca Dagna Bricarelli, Federico Zara

Journal:

Year:

2001

Language:

english

File:

PDF, 353 KB

english, 2001

21

Microculture of fetal blood for prenatal cytogenetic studies from blood-stained amniotic fluid

F. Dagna Bricarelli, A. Arslanian, L. Doria Lamba Carbone, R. Chisci, M. Gessaga, P. Zucchinetti

Journal:

Prenatal Diagnosis

Year:

1982

Language:

english

File:

PDF, 258 KB

english, 1982

22

False-positive and false-negative findings on chorionic villus sampling

G. Simoni, M. Fraccaro, G. Gimelli, F. Maggi, F. Dagna Bricarelli

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 111 KB

english, 1987

23

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

S. Cavani, C. Perfumo, F. Faravelli, M. Malacarne, M. Sogliani, G. Piombo, G. Zerega, M. Zucca, F. Dagna Bricarelli, M. Pierluigi

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 116 KB

english, 2003

24

Isochromosome not translocation in trisomy 21q21q

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

Journal:

Year:

1989

Language:

english

File:

PDF, 391 KB

english, 1989

25

Sex-reversed XY females with campomelic dysplasia are H-Y negative

Franca Dagna Bricarelli, M. Fraccaro, J. Lindsten, U. Müller, P. Baggio, Laura Doria Lamba Carbone, A. Hjerpe, F. Lindgren, Antonia Mayerová, H. Ringertz, E. M. Ritzén, D. C. Rovetta, C. Sicchero, U.

Journal:

Year:

1981

Language:

english

File:

PDF, 846 KB

english, 1981

26

Frequency of consanguineous marriages among parents and grandparents of Down patients

Marcella Devoto, Letizia Prosperi, Franca Dagna Bricarelli, D. A. Coviello, G. Croci, L. Zelante, Giovanna Ferranti, R. Tenconi, Chiara Stomeo, G. Romeo

Journal:

Year:

1985

Language:

english

File:

PDF, 301 KB

english, 1985

27

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

Gerd Scherer, Werner Schempp, Carlo Baccichetti, Elisabetta Lenzini, Franca Dagna Bricarelli, Laura Doria Lamba Carbone, Ulrich Wolf

Journal:

Year:

1989

Language:

english

File:

PDF, 364 KB

english, 1989

28

High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms

Franca Dagna Bricarelli, Mauro Pierluigi, Lucia Perroni, Marina Grasso, Araxy Arslanian, Nicoletta Sacchi

Journal:

Year:

1988

Language:

english

File:

PDF, 564 KB

english, 1988

29

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

G. Simoni, M. Fraccaro, A. Arslanian, M. Bacchetta, C. Baccichetti, F. A. Bignone, A. Cagiano, A. O. Carbonara, F. Carozzi, C. Cuoco, F. Dagna Bricarelli, B. Dallapiccola, L. Dalprà, L. Doria Lamba Ca

Journal:

Year:

1982

Language:

english

File:

PDF, 484 KB

english, 1982

30

Parental age and the origin of trisomy 21

F. Dagna Bricarelli, M. Pierluigi, M. Landucci, A. Arslanian, D. A. Coviello, M. A. Ferro, P. Strigini

Journal:

Year:

1989

Language:

english

File:

PDF, 754 KB

english, 1989

31

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

F. Dagna Bricarelli, M. Magnani, A. Arslanian, G. Camera, D. A. Coviello, P. Pietro, B. Dallapiccola

Journal:

Year:

1981

Language:

english

File:

PDF, 270 KB

english, 1981

32

Selective deficiency of IgG and IgA as a first stage defect in B cell differentiation

Franca Dagna Bricarelli, Emilia DeLanglade, Maria Franca LaFauci, Paolo Moscatelli

Journal:

Annals of Hematology

Year:

1977

Language:

english

File:

PDF, 249 KB

english, 1977

33

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

A. Savoia, Maria Rosaria Piemontese, Maria Savino, Adriana Zatterale, J. Pronk, F. Arwert, Hans Joenje, Ugo Ramenghi, Franca Dagna-Bricarelli, Bruno Dallapiccola, Leopoldo Zelante

Journal:

Year:

1996

Language:

english

File:

PDF, 45 KB

english, 1996

34

A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer’s disease

R. Pantieri, M. Pardini, M. Cecconi, F. Dagna-Bricarelli, A. Vitali, A. Piccini, R. Russo, R. Borghi, M. Tabaton

Journal:

Neurological Sciences

Year:

2005

Language:

english

File:

PDF, 42 KB

english, 2005

35

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker

Suzanne McElwaine, Claire Mulligan, Jürgen Groet, Monica Spinelli, Andrea Rinaldi, Gareth Denyer, Afua Mensah, Simona Cavani, Chiara Baldo, Franca Dagna-Bricarelli, Ian Hann, Giuseppe Basso, Finbarr E

Journal:

British Journal of Haematology

Year:

2004

Language:

english

File:

PDF, 607 KB

english, 2004

36

Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome

Serena De Vita, Claire Mulligan, Suzanne McElwaine, Franca Dagna-Bricarelli, Monica Spinelli, Giuseppe Basso, Dean Nizetic, Jürgen Groet

Journal:

British Journal of Haematology

Year:

2007

Language:

english

File:

PDF, 598 KB

english, 2007

37

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis

L. Pastorino, R. Cusano, C. Baldo, F. Forzano, S. Nasti, M. Di Rocco, M. Carta, F. Dagna Bricarelli, F. Faravelli, G. Bianchi Scarrà

Journal:

Child: Care, Health and Development

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

38

Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

V Viassolo, SC Previtali, E Schiatti, G Magnani, C Minetti, F Zara, M Grasso, F Dagna-Bricarelli, E Di Maria

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 563 KB

english, 2008

39

10.1038/83707

Wildin, Robert S., Ramsdell, Fred, Peake, Jane, Faravelli, Francesca, Casanova, Jean-Laurent, Buist, Neil, Levy-Lahad, Ephrat, Mazzella, Massimo, Goulet, Olivier, Perroni, Lucia, Dagna Bricarelli, Fra

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

40

Presence of soluble amyloid β–peptide precedes amyloid plaque formation in Down's syndrome

Teller, Jan K., Russo, Claudio, Debusk, Laura M., Angelini, Giovanna, Zaccheo, Damiano, Dagna-Bricarelli, Francesca, Scartezzini, Pietro, Bertolini, Stefano, Mann, David M.A., Tabaton, Massimo

Journal:

Nature Medicine

Year:

1996

File:

PDF, 344 KB

1996

41

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome

De Vita, S, Canzonetta, C, Mulligan, C, Delom, F, Groet, J, Baldo, C, Vanes, L, Dagna-Bricarelli, F, Hoischen, A, Veltman, J

Journal:

Year:

2010

Language:

english

File:

PDF, 982 KB

english, 2010

42

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother

Lo Nigro, Cristiana, Faravelli, Francesca, Cavani, Simona, Perroni, Lucia, Novello, Paolo, Vitali, Mariarosa, Bricarelli, Franca Dagna, Grasso, Marina

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 448 KB

english, 2000

43

Genetic testing in Italy, year 2004

Dallapiccola, Bruno, Torrente, Isabella, Morena, Arnaldo, Dagna-Bricarelli, Franca, Mingarelli, Rita

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 124 KB

english, 2006

44

Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations

Hastings, Ros J, Cavani, Simona, Bricarelli, Franca Dagna, Patsalis, Philippos C, Kristoffersson, Ulf

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

45

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A. de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti, Fabio Benf

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 835 KB

english, 2010

46

Clinical scale ex vivo expansion of cord blood–derived outgrowth endothelial progenitor cells is associated with high incidence of karyotype aberrations

Mirko Corselli, Alessia Parodi, Massimo Mogni, Nadia Sessarego, Annalisa Kunkl, Franca Dagna-Bricarelli, Adalberto Ibatici, Sarah Pozzi, Andrea Bacigalupo, Francesco Frassoni, Giovanna Piaggio

Journal:

Experimental Hematology

Year:

2008

Language:

english

File:

PDF, 1.07 MB

english, 2008

47

A to O Bone Marrow Transplantation in Severe Aplastic Anaemia: Dynamics of Blood Group Conversion and Demonstration of Early Dyserythropoiesis in the Engrafted Marrow

A. M. Marmont, E. E. Damasio, A. Bacigalupo, D. Giordano, E. Rossi, G. Reali, A. Gay, F. Dagna-Bricarelli, F. Brema, A. M. Carella, G. Santini

Journal:

British Journal of Haematology

Year:

1977

Language:

english

File:

PDF, 504 KB

english, 1977

48

An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes

M. Pierluigi, C. Perfumo, S. Cavani, H. Lehrach, D. Nizetic, F. Dagna Bricarelli

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 542 KB

english, 1996

49

Early Glycoxidation Damage in Brains from Down's Syndrome

Patrizio Odetti, Giovanna Angelini, Debora Dapino, Damiano Zaccheo, Silvano Garibaldi, Francesca Dagna-Bricarelli, Giuseppe Piombo, George Perry, Mark Smith, Nicola Traverso, Massimo Tabaton

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 85 KB

english, 1998

50

The natural history of Cri du Chat Syndrome. A report from the Italian Register

Paola Cerruti Mainardi, Guido Pastore, Chiara Castronovo, Michela Godi, Andrea Guala, Stefania Tamiazzo, Sandro Provera, Mauro Pierluigi, Franca Dagna Bricarelli

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 661 KB

english, 2006

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски