Bacchelli, Elena: search on Z-Library

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1

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment

Dianne F. Newbury, Pamela C. Warburton, Natalie Wilson, Elena Bacchelli, Simona Carone, The International Molecular Genetic Study of Autism Consortium (IMGSAC), Janine A. Lamb, Elena Maestrini, Emanue

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 715 KB

english, 2009

2

Mutation analysis of the coding sequence of theMECP2gene in infantile autism

Kim S. Beyer, Francesca Blasi, Elena Bacchelli, Sabine M. Klauck, Elena Maestrini, Annemarie Poustka, International Molecular Genetic Study of Autism Consortium (IMGSAC)

Journal:

Year:

2003

Language:

english

File:

PDF, 84 KB

english, 2003

3

Mutation analysis of the coding sequence of theMECP2gene in infantile autism

Beyer, Kim, Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine, Maestrini, Elena, Poustka, Annemarie, Molecular Genetic Study of Autism C, International

Journal:

Year:

2002

Language:

english

File:

PDF, 227 KB

english, 2002

4

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Bacchelli, Elena, Loi, Eleonora, Cameli, Cinzia, Moi, Loredana, Benedetti, Ana, Blois, Sylvain, Fadda, Antonio, Bonora, Elena, Mattu, Sandra, Fadda, Roberta, Chessa, Rita, Maestrini, Elena, Doneddu, G

Journal:

Journal of Clinical Medicine

Year:

2019

Language:

english

File:

PDF, 2.35 MB

english, 2019

5

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

Bacchelli, Elena, Cameli, Cinzia, Viggiano, Marta, Igliozzi, Roberta, Mancini, Alice, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena

Journal:

Scientific Reports

Year:

2020

Language:

english

File:

PDF, 2.39 MB

english, 2020

6

Identification and validation of loss of function variants in clinical contexts

Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 193 KB

english, 2014

7

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

Francesca Blasi, Elena Bacchelli, Giulia Pesaresi, Simona Carone, Anthony J. Bailey, Elena Maestrini

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

8

Analysis of X chromosome inactivation in autism spectrum disorders

Xiaohong Gong, Elena Bacchelli, Francesca Blasi, Claudio Toma, Catalina Betancur, Pauline Chaste, Richard Delorme, Christelle M. Durand, Fabien Fauchereau, Hany Goubran Botros, Marion Leboyer, Marie-C

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

9

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

Bonora, Elena, Lamb, Janine A, Barnby, Gabrielle, Sykes, Nuala, Moberly, Thomas, Beyer, Kim S, Klauck, Sabine M, Poustka, Firtz, Bacchelli, Elena, Blasi, Francesca

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

10

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia

Miranda Baccarani-Contri, Barbara Bacchelli, Federica Boraldi, Daniela Quaglino, Francesca Taparelli, Elena Carnevalia, Maria Angela Francomano, Stefania Seidenari, Vincenzo Bettoli, Vincenzo De Sanct

Journal:

Journal of the American Academy of Dermatology

Year:

2001

Language:

english

File:

PDF, 415 KB

english, 2001

11

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

Torrico, Bàrbara, Chiocchetti, Andreas G., Bacchelli, Elena, Trabetti, Elisabetta, Hervás, Amaia, Franke, Barbara, Buitelaar, Jan K., Rommelse, Nanda, Yousaf, Afsheen, Duketis, Eftichia, Freitag, Chri

Journal:

Autism Research

Year:

2016

Language:

english

File:

PDF, 156 KB

english, 2016

12

Exhaustive generation of combinatorial objects by ECO

Silvia Bacchelli, Elena Barcucci, Elisabetta Grazzini, Elisa Pergola

Journal:

Acta Informatica

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

13

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

Blasi, Francesca, Bacchelli, Elena, Carone, Simona, Toma, Claudio, Monaco, Anthony P, Bailey, Anthony J, Maestrini, Elena

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

14

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, M

Journal:

EMBO Molecular Medicine

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

15

ELMOD3 ‐ SH2D6 gene fusion as a possible co‐star actor in autism spectrum disorder scenario

Loi, Eleonora, Moi, Loredana, Blois, Sylvain, Bacchelli, Elena, Vega Benedetti, Ana Florencia, Cameli, Cinzia, Fadda, Roberta, Maestrini, Elena, Carta, Marinella, Doneddu, Giuseppe, Zavattari, Patrizi

Journal:

Journal of Cellular and Molecular Medicine

Year:

2019

File:

PDF, 1.22 MB

2019

16

Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

Alistair T. Pagnamenta, Elena Bacchelli, Maretha V. de Jonge, Ghazala Mirza, Thomas S. Scerri, Fiorella Minopoli, Andreas Chiocchetti, Kerstin U. Ludwig, Per Hoffmann, Silvia Paracchini, Ernesto Lowy,

Journal:

Biological Psychiatry

Year:

2010

Language:

english

File:

PDF, 948 KB

english, 2010

17

Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment

Cameli, Cinzia, Bacchelli, Elena, De Paola, Maria, Giucastro, Giuliano, Cifiello, Stefano, Collo, Ginetta, Cainazzo, Maria Michela, Pini, Luigi Alberto, Maestrini, Elena, Zoli, Michele

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 474 KB

english, 2018

18

Histological assessment of renal damage in high or low cardiovascular risk profile potential organ donors

Daniela Degli Esposti, Stefano Bacchelli, Ada Dormi, Angelo Ghirardini, Maria Rosa Pugliese, Elena Sestigiani, Nicola Venturoli, Paolo Mazzetti Gaito, Claudio Borghi, Lorenza Ridolfi, Ettore Ambrosion

Journal:

American Journal of Hypertension

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

19

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Jillian P. Casey, Tiago Magalhaes, Judith M. Conroy, Regina Regan, Naisha Shah, Richard Anney, Denis C. Shields, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Anthony J. Bailey, Gillian Baird, Ag

Journal:

Year:

2012

Language:

english

File:

PDF, 589 KB

english, 2012

20

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility

Bacchelli, Elena, Battaglia, Agatino, Cameli, Cinzia, Lomartire, Silvia, Tancredi, Raffaella, Thomson, Susanne, Sutcliffe, James S, Maestrini, Elena

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

21

ACTNNA3compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

Elena Bacchelli,Fabiola Ceroni,Dalila Pinto…

Journal:

Journal of Neurodevelopmental Disorders

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

22

A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants

Bacchelli, Elena, Cainazzo, Maria Michela, Cameli, Cinzia, Guerzoni, Simona, Martinelli, Angela, Zoli, Michele, Maestrini, Elena, Pini, Luigi Alberto

Journal:

The Journal of Headache and Pain

Year:

2015

Language:

english

File:

PDF, 829 KB

english, 2015

23

Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old

Rochat, Magali Jane, Distefano, Giacomo, Maffei, Monica, Toni, Francesco, Posar, Annio, Scaduto, Maria Cristina, Resca, Federica, Cameli, Cinzia, Bacchelli, Elena, Maestrini, Elena, Visconti, Paola

Journal:

Year:

2020

File:

PDF, 747 KB

2020

24

Linkage and candidate gene studies of autism spectrum disorders in European populations

Holt, Richard, Barnby, Gabrielle, Maestrini, Elena, Bacchelli, Elena, Brocklebank, Denise, Sousa, Inês, Mulder, Erik J, Kantojärvi, Katri, Järvelä, Irma, Klauck, Sabine M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

25

O015. Evaluation of the genetic polymorphism of the α3 (CHRNA3) and α5 (CHRNA5) nicotinic receptor subunits, in patients with cluster headache

Cainazzo, Maria Michela, Tiraferri, Ilaria, Ciccarese, Michela, Martinelli, Angela, Cameli, Cinzia, Bacchelli, Elena, Zoli, Michele, Pini, Luigi Alberto

Journal:

The Journal of Headache and Pain

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

26

Autism spectrum disorders: Molecular genetic advances

Elena Bacchelli, Elena Maestrini

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

27

Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations

Holt, Richard, Barnby, Gabrielle, Maestrini, Elena, Bacchelli, Elena, Brocklebank, Denise, Sousa, Inês, Mulder, Erik J, Kantojärvi, Katri, Järvelä, Irma, Klauck, Sabine M

Journal:

European Journal of Human Genetics

Year:

2010

File:

PDF, 81 KB

2010

28

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

Magini, Pamela, Poscente, Monica, Ferrari, Simona, Vargiolu, Manuela, Bacchelli, Elena, Graziano, Claudio, Wischmeijer, Anita, Turchetti, Daniela, Malaspina, Elisabetta, Marchiani, Valentina, Cordelli

Journal:

Molecular Cytogenetics

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

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