Battaglia, Agatino : rechercher sur Z-Library

Année:

2009

Langue:

english

Fichier:

PDF, 195 KB

english, 2009

Etiologic yield of autistic spectrum disorders: A prospective study

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

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 103 KB

english, 2006

Genetics of autistic spectrum disorders

Agatino Battaglia, William M. McMahon

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 66 KB

english, 2006

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

Inês Sousa, Taane G Clark, Richard Holt, Alistair T Pagnamenta, Erik J Mulder, Ruud B Minderaa, Anthony J Bailey, Agatino Battaglia, Sabine M Klauck, Fritz Poustka, Anthony P Monaco, International Mol

Journal:

Molecular Autism

Année:

2010

Langue:

english

Fichier:

PDF, 2.79 MB

english, 2010

MET and autism susceptibility: family and case–control studies

Sousa, Inês, Clark, Taane G, Toma, Claudio, Kobayashi, Kazuhiro, Choma, Maja, Holt, Richard, Sykes, Nuala H, Lamb, Janine A, Bailey, Anthony J, Battaglia, Agatino

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 317 KB

english, 2008

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Orphanet Journal of Rare Diseases

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 733 KB

english, 2008

Wolf-Hirschhorn syndrome: A review and update

Battaglia, Agatino, Carey, John C., South, Sarah T.

Journal:

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2015

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome

Ho, Karen S., Markham, Leah M., Twede, Hope, Lortz, Amanda, Olson, Lenora M., Sheng, Xiaoming, Weng, Cindy, Wassman, E. Robert, Newcomb, Tara, Wassman, E. Robert, Carey, John C., Battaglia, Agatino

Journal:

Epilepsy & Behavior

Année:

2018

Langue:

english

Fichier:

PDF, 643 KB

english, 2018

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

Année:

2020

Langue:

english

Fichier:

PDF, 2.39 MB

english, 2020

Cassidy and Allanson's Management of Genetic Syndromes || DOWN SYNDROME

Carey, John C., Battaglia, Agatino, Viskochil, David, Cassidy, Suzanne B.

Année:

2021

Fichier:

PDF, 374 KB

2021

Cassidy and Allanson's Management of Genetic Syndromes || TREACHER COLLINS SYNDROME AND RELATED DISORDERS

Carey, John C., Battaglia, Agatino, Viskochil, David, Cassidy, Suzanne B.

Année:

2021

Fichier:

PDF, 147 KB

2021

Mental retardation, epilepsy, short stature, and skeletal dysplasia: Confirmation of the Gurrieri syndrome

Battaglia, Agatino, Orsitto, Eugenio, Gibilisco, Gaetano

Journal:

Battaglia, Agatino, Carey, John C.

Année:

1996

Langue:

english

Fichier:

PDF, 874 KB

english, 1996

Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome

Journal:

Neri, Giovanni, Steindl, Katharina, Mazzei, Attilio, Battaglia, Agatino, Cappa, Marco

Année:

1998

Langue:

english

Fichier:

PDF, 13 KB

english, 1998

Nonsyndromal overgrowth in males with mild psychomotor delay

Journal:

Battaglia, Agatino, Bianchini, Elena, Carey, John C.

Année:

1998

Langue:

english

Fichier:

PDF, 44 KB

english, 1998

Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry

Journal:

Battaglia, Agatino, Carey, John C.

Année:

1999

Langue:

english

Fichier:

PDF, 288 KB

english, 1999

Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome

Journal:

Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino, Pierpaolo Mastroiacovo, Tracy J. Wright, Giovanni Sorge, Angelo Selicorni, Romano Tenconi, Alessandro Zappalà, Agatino Battaglia, Maja Di Rocco

Année:

1999

Langue:

english

Fichier:

PDF, 66 KB

english, 1999

Genotype–phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 428 KB

english, 2000

Genetics and Mental Retardation Syndromes, by Elisabeth M. Dykens, Robert M. Hodapp, and Brenda M. Finucane

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 39 KB

english, 2002

del (9p) syndrome: Proposed behavior phenotype

Anna Chilosi, Agatino Battaglia, Daniela Brizzolara, Paola Cipriani, Lucia Pfanner, John C. Carey

Journal:

Agatino Battaglia, Tiziana Filippi, Silvia Pusceddu, Charles A. Williams

Année:

2001

Langue:

english

Fichier:

PDF, 169 KB

english, 2001

Filippi syndrome: Further clinical characterization

Journal:

Charles A. Williams, Aditi Dagli, Agatino Battaglia

Année:

2008

Langue:

english

Fichier:

PDF, 172 KB

english, 2008

Genetic disorders associated with macrocephaly

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 269 KB

english, 2008

Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith–Magenis syndrome by Vieira and colleagues

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 69 KB

english, 2011

Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2)

Hilary Coon, Diane Dunn, Janet Lainhart, Judith Miller, Cindy Hamil, Agatino Battaglia, Raffaella Tancredi, Mark F. Leppert, Robert Weiss, William McMahon

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 71 KB

english, 2005

Diagnostic evaluation of developmental delay/mental retardation: An overview

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

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 161 KB

english, 2003

Genetics of mental retardation

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

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 41 KB

english, 2003

Neuroimaging studies in the evaluation of developmental delay/mental retardation

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

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 79 KB

english, 2003

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

Agatino Battaglia, Maria C. Bonaglia

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 96 KB

english, 2006

Cognitive-behavioral features of children with Wolf–Hirschhorn syndrome: Preliminary report of 12 cases

Gene S. Fisch, Agatino Battaglia, Barbara Parrini, Janey Youngblom, Richard Simensen

Journal:

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

Année:

2008

Langue:

english

Fichier:

PDF, 87 KB

english, 2008

Wolf–Hirschhorn syndrome and the 4p-related syndromes

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

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 47 KB

english, 2008

Update on the clinical features and natural history of Wolf–Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision

Agatino Battaglia, Tiziana Filippi, John C. Carey

Journal:

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

Année:

2008

Langue:

english

Fichier:

PDF, 118 KB

english, 2008

The behavioral phenotype of the idic(15) syndrome

Agatino Battaglia, Barbara Parrini, Raffaella Tancredi

Journal:

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

Année:

2010

Langue:

english

Fichier:

PDF, 158 KB

english, 2010

Cognitive-behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions

Gene S. Fisch, Paul Grossfeld, Rena Falk, Agatino Battaglia, Janey Youngblom, Richard Simensen

Journal:

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

Année:

2010

Langue:

english

Fichier:

PDF, 224 KB

english, 2010

Introduction: Behavioral phenotypes in neurogenetic syndromes

Agatino Battaglia, Gene S. Fisch

Journal:

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

Année:

2010

Langue:

english

Fichier:

PDF, 45 KB

english, 2010

Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients

AGATINO BATTAGLIA, TIZIANA FILIPPI, SARAH T SOUTH, JOHN C CAREY

Journal:

Developmental Medicine & Child Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 843 KB

english, 2009

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Ertel, Adam, Fortina, Paolo, Bernardini, Laura, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Bottillo, Irene, Battaglia, Agatino, Digilio, Maria Cristina, Zampino, Giuseppe

Journal:

Sykes, Nuala H, Toma, Claudio, Wilson, Natalie, Volpi, Emanuela V, Sousa, Inês, Pagnamenta, Alistair T, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena, Bailey, Anthony J

Année:

2009

Langue:

english

Fichier:

PDF, 709 KB

english, 2009

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

Journal:

Battaglia, Agatino, South, Sarah, Carey, John C

Année:

2009

Langue:

english

Fichier:

PDF, 514 KB

english, 2009

Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome

Journal:

South, Sarah T, Whitby, Heidi, Battaglia, Agatino, Carey, John C, Brothman, Arthur R

Année:

2010

Langue:

english

Fichier:

PDF, 115 KB

english, 2010

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 235 KB

english, 2007

Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 81 KB

english, 2005

Del 1p36 syndrome: a newly emerging clinical entity

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 119 KB

english, 2005

The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder

Journal:

Developmental Medicine & Child Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 136 KB

english, 2005

NEUROLOGICAL FINDINGS AND SEIZURE OUTCOME IN CHILDREN WITH BILATERAL OPERCULAR MACROGYRIC-LIKE CHANGES DETECTED BY MRI

R. Guerrini, Charlotte Dravet, Charles Raybaud, Joseph Roger, Michelle Bureau, Agatino Battaglia, Marie-Odile Livet, Gabriella Colicchio, Olivier Robain

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 929 KB

english, 1992

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria M. Rina

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 2.87 MB

english, 2005

Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient

Loddo, Sara, Parisi, Valentina, Doccini, Viola, Filippi, Tiziana, Bernardini, Laura, Brovedani, Paola, Ricci, Federica, Novelli, Antonio, Battaglia, Agatino

Journal:

Williams, Charles A., Battaglia, Agatino

Année:

2013

Langue:

english

Fichier:

PDF, 113 KB

english, 2013

Molecular biology of epilepsy genes

Journal:

Experimental Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 400 KB

english, 2013

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

Esplin, Edward D., Li, Ben, Slavotinek, Anne, Novelli, Antonio, Battaglia, Agatino, Clark, Robin, Curry, Cynthia, Hudgins, Louanne

Journal:

Bozza, Margherita, Bernardini, Laura, Novelli, Antonio, Brovedani, Paola, Moretti, Elena, Canapicchi, Raffaello, Doccini, Viola, Filippi, Tiziana, Battaglia, Agatino

Année:

2014

Langue:

english

Fichier:

PDF, 156 KB

english, 2014

6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 726 KB

english, 2013

Double-blind placebo-controlled trial of flunarizine as add-on therapy in refractory childhood epilepsy

Battaglia, Agatino, Ferrari, Anna Rita, Guerrini, Renzo

Journal: