Department of Clinical and Biological Sciences

Selected research products

Collins, Ryan L , Brand, Harrison, Redin, Claire E , Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R , Glessner, Joseph T , Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B , Seabra, Catarina M , Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A , Lucente, Diane, Levy, Brynn, Sanders, Stephan J , Wapner, Ronald J , Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E (2017)
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
https://iris.unito.it/handle/2318/1631327

Pelle, Alessandra, Cuccurullo, Alessandra, Mancini, Cecilia, Sebastiano, Regina, Stallone, Giovanni, Negrisolo, Susanna, Benetti, Elisa, Peruzzi, Licia, Petrarulo, Michele, De Marchi, Mario, Marangella, Martino, Amoroso, Antonio, Giachino, Daniela, Mandrile, Giorgia (2017)
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
https://iris.unito.it/handle/2318/1559459

Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D', Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, Fitzpatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, Mcclellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E (2017)
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
https://iris.unito.it/handle/2318/1631242

Di Gregorio, Eleonora, Riberi, Evelise, Belligni, Elga Fabia, Biamino, Elisa, Spielmann, Malte, Ala, Ugo, Calcia, Alessandro, Bagnasco, Irene, Carli, Diana, Gai, Giorgia, Giordano, Mara, Guala, Andrea, Keller, Roberto, Mandrile, Giorgia, Arduino, Carlo, Maffè, Antonella, Naretto, Valeria Giorgia, Sirchia, Fabio, Sorasio, Lorena, Ungari, Silvana, Zonta, Andrea, Zacchetti, Giulia, Talarico, Flavia, Pappi, Patrizia, Cavalieri, Simona, Giorgio, Elisa, Mancini, Cecilia, Ferrero, Marta, Brussino, Alessandro, Savin, Elisa, Gandione, Marina, Pelle, Alessandra, Giachino, Daniela Francesca, De Marchi, Mario, Restagno, Gabriella, Provero, Paolo, Silengo, Margherita Cirillo, Grosso, Enrico, Buxbaum, Joseph D, Pasini, Barbara, De Rubeis, Silvia, Brusco, Alfredo, Ferrero, Giovanni Battista (2017)
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes.
https://iris.unito.it/handle/2318/1631611

Krishnamurthy, S, Kartha, G B, Venkateswaran, V S, Prasannakumar, M, Mahadevan, S, Gowda, M, Pelle, A, Giachino, D (2017)
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.
https://iris.unito.it/handle/2318/1647787

Mandrile, Giorgia, Di Gregorio, Eleonora, Goel, Himanshu, Giachino, Daniela, De Mercanti, Stefania, Iudicello, Marco, Rolando, Marco, Losa, Sabrina, De Marchi, Mario, Brusco, Alfredo (2016)
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans.
https://iris.unito.it/handle/2318/1521986

Menti, E, Lanera, C, Lorenzoni, G, Giachino, Daniela F, Marchi, Mario De, Gregori, Dario, Berchialla, Paola (2016)
Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients.
https://iris.unito.it/handle/2318/1631639

Reimondo, Giuseppe, Chiodini, Iacopo, Puglisi, Soraya, Pia, Anna, Morelli, Valentina, Kastelan, Darko, Cannavo, Salvatore, Berchialla, Paola, Giachino, Daniela, Perotti, Paola, Cuccurullo, Alessandra, Paccotti, Piero, Beck-Peccoz, Paolo, Marchi, Mario De, Terzolo, Massimo (2016)
Analysis of BCLI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene in adrenal incidentalomas.
https://iris.unito.it/handle/2318/1609135

Carla Giustetto, Chiara Scrocco, Rainer Schimpf, Philippe Maury, Andrea Mazzanti, Marco Levetto, Olli Anttonen, Paola Dalmasso, Natascia Cerrato, Elena Gribaudo, Christian Wolpert, Daniela Giachino, Charles Antzelevitch, Martin Borggrefe and Fiorenzo Gaita (2015)
Usefulness of exercise test in the diagnosis of short QT syndrome.
https://iris.unito.it/handle/2318/158628

Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S, 16p11 2 European Consortium including Addor MC, Andrieux J, Arveiler B, Baujat G, Béna F, Bouquillon S, Boute O, Brusco A, Campion D, David A, Delrue MA, Doco-Fenzy M, Fagerberg C, Faivre L, Forzano F, Giachino D, Guichet A, Guillin O, Héron D, Isidor B, Jacquette A, Journel H, Keren B, Lacombe D, Le Caignec C, Lespinasse J, Mandrile G, Mathieu-Dramard M, Mignot C, Petit F, Plessis G, Prieur F, Sanlaville D, Van Haelst M, Van Maldergem L (2015)
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
https://iris.unito.it/handle/2318/152956

Giustetto, Carla, Scrocco, Chiara, Giachino, Daniela, Rapezzi, Claudio, Mognetti, Barbara, Gaita, Fiorenzo (2015)
The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene.
https://iris.unito.it/handle/2318/1642181

Giorgia Mandrile, Gian Nicola Gallus, Giuseppe Mura, Alessia Sapio, Maria Alessandra Sotgiu, Andrea Montella, Daniela Francesca Giachino, Maria Teresa Dotti, Lucia Ulgheri, Antonio Federico (2014)
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
https://iris.unito.it/handle/2318/148508

C Fallerini, L Dosa, R Tita, D Del Prete, S Feriozzi, G Gai, M Clementi, A La Manna, N Miglietti, R Mancini, G Mandrile, GM Ghiggeri, G Piaggio, F Brancati, L Diano, E Frate, AR Pinciaroli, M Giani, P Castorina, E Bresin, D Giachino, M De Marchi, F Mari, M Bruttini, A Renieri, F Ariani (2014)
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
https://iris.unito.it/handle/2318/148317

Montioli R, Roncador A, Oppici E, Mandrile G, Giachino DF, Cellini B, Voltattorni CB (2014)
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
https://iris.unito.it/handle/2318/150799

G Mandrile, E Di Gregorio, H Goel, D F Giachino, S De Mercanti, M Iudicello, S Losa, M Rolando, L Ranum, M De Marchi, A Brusco (2014)
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans.
https://iris.unito.it/handle/2318/144583

Ricci MT, Menegon S, Vatrano S, Mandrile G, Cerrato N, Carvalho P, De Marchi M, Gaita F, Giustetto C, Giachino DF (2014)
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.
https://iris.unito.it/handle/2318/152953

Mandrile G, Di Gregorio E, Calcia A, Brussino A, Grosso E, Savin E, Giachino DF, Brusco A (2014)
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
https://iris.unito.it/handle/2318/152954

Carla Giustetto, Natascia Cerrato, Elena Gribaudo, Chiara Scrocco, Davide Castagno, Elena Richiardi, Daniela Giachino, Francesca Bianchi, Lorella Barbonaglia, Anna Ferraro, Marco Scaglione, Riccardo Riccardi, Fiorenzo Gaita (2014)
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis.
https://iris.unito.it/handle/2318/141511

G Reimondo, M Coletta, D Giachino, I Chiodini, D Kastelan, V Morelli, S Cannavi, A Cuccurullo, P Beck-Peccoz, M De Marchi, M Terzolo (2013)
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma.
https://iris.unito.it/handle/2318/153515

Maria Piccione, Tiziana Fragapane, Vincenzo Antona, Daniela Giachino, Francesco Cupido, Giovanni Corsello (2013)
PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol.
https://iris.unito.it/handle/2318/148506

Righi L, Cuccurullo A, Vatrano S, Cappia S, Giachino D, De Giuli P, Ardine M, Novello S, Volante M, Scagliotti GV, Papotti M (2013)
Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing.
https://iris.unito.it/handle/2318/132316

R Giordano, S Marzotti, R Berardelli, I Karamouzis, A Brozzetti, V D?Angelo, G Mengozzi, G Mandrile, D Giachino, G Migliaretti, V Bini, A Falorni, E Ghigo, E Arvat (2012)
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON?S DISEASE.
https://iris.unito.it/handle/2318/103650

Schaeffer C, Cattaneo A, Trudu M, Santambrogio S, Bernascone I, Giachino D, Caridi G, Campo A, Murtas C, Benoni S, Izzi C, De Marchi M, Amoroso A, Ghiggeri GM, Scolari F, Bachi A, Rampoldi L (2012)
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates.
https://iris.unito.it/handle/2318/104669

Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M, Renieri A, Giachino D (2011)
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
https://iris.unito.it/handle/2318/89072

Rapa I, Saggiorato E, Giachino D, Palestini N, Orlandi F, Papotti M, Volante M (2011)
Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma.
https://iris.unito.it/handle/2318/130302

Carla Giustetto, Chiara Scrocco, Daniela Giachino, Charles Antzelevitch, , Fiorenzo Gaita (2011)
Short QT syndrome.
https://iris.unito.it/handle/2318/91013

Maffé A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo A, Carloni A, Poletti V, Tomassetti S, Ginardi C, Ungari S, Genuardi M (2011)
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
https://iris.unito.it/handle/2318/81759

Mosca L, Marazzi R, Ciccone A, Santilli I, Bersano A, Sansone V, Grosso E, Mandrile G, Giachino DF, Adobbati L, Corengia E, Agostoni E, Fiumani A, Gallone S, Scarpini E, Guidotti M, Sterzi R, Ajmone C, Marocchi A, Penco S (2011)
NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
https://iris.unito.it/handle/2318/85549

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G (2009)
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
https://iris.unito.it/handle/2318/62339

Marcocci E, Uliana V, Bruttini M, Artuso R, Cirillo Silengo M, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Battista Fogazzi G, Rosatelli C, Dresch Martinhago C, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F (2009)
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
https://iris.unito.it/handle/2318/57860

Volante M, Rapa I, Gandhi M, Bussolati G, Giachino D, Papotti M, Nikiforov YE (2009)
RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact.
https://iris.unito.it/handle/2318/72560

Mandrile G, Robbiano A, Giachino DF, Sebastiano R, Dondi E, Fenoglio R, Stratta P, Caruso MR, Petrarulo M, Marangella M, De Marchi M (2008)
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.
https://iris.unito.it/handle/2318/57697

Franca Gerosa, Barbara Baldani-Guerra, Lyudmila A Lyakh, Giovanna Batoni, Semih Esin, Robin T Winkler-Pickett, Maria Rita Consolaro, Mario De Marchi, Daniela Giachino, Angela Robbiano, Marco Astegiano, Angela Sambataro, Robert A Kastelein, Giuseppe Carra, Giorgio Trinchieri (2008)
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells.
https://iris.unito.it/handle/2318/46625

E Marcocci, V Uliana, M Silengo, M Zerial, F Bergesio, A Amoroso, M Pennesi, D Giachino, C Rosatelli, C Dresch Martinhago, M Carmellini, F Mari, M Bruttini, I Longo, A Renieri (2008)
Autosomal dominant Alport syndrome: molecular analysis of theCOL4A4 gene and clinical outcome.
https://iris.unito.it/handle/2318/69384

K Sampieri, F Ariani, D Giachino, G Mandrile, M De Marchi, M Bruttini, M Mencarelli, F Mari, T Hadjistilianou, S De Francesco, A Acquaviva, A Renieri (2007)
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma.
https://iris.unito.it/handle/2318/68570

Giachino DF, Ghio P, Regazzoni S, Mandrile G, Novello S, Selvaggi G, Gregori D, DeMarchi M, Scagliotti GV (2007)
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.
https://iris.unito.it/handle/2318/49571

SAMPIERI K, HADJISTILIANOU T, MARI F, SPECIALE C, MENCARELLI MA, CETTA F, MANOUKIAN S, PEISSEL B, GIACHINO D, B PASINI, ACQUAVIVA A, CAPOROSSI A, FREZZOTTI R, RENIERI A, BRUTTINI M (2006)
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
https://iris.unito.it/handle/2318/38500

Tampellini M, Alabiso I, Sculli CM, Barberis M, Giachino D, Berruti A, Dogliotti L (2006)
Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil.
https://iris.unito.it/handle/2318/60355

Mari F, Giachino D, Russo L, Pilia G, Ariani F, Scala E, Chiappe F, Sampieri K, Caporossi A, Renieri A, Lasorella G (2006)
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
https://iris.unito.it/handle/2318/57756

E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, A Renieri (2005)
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
https://iris.unito.it/handle/2318/60354

VAN DUIST MM, ALBRECHT M, PODSWIADEK M, GIACHINO D, LENGAUER T, PUNZI L, DE MARCHI M (2005)
A new CARD15 mutation in Blau syndrome.
https://iris.unito.it/handle/2318/40115

Giachino D, van Duist MM, Regazzoni S, Gregori D, Bardessono M, Salacone P, Scaglione N, Sostegni R, Sapone N, Bresso F, Sambataro A, Gaia E, Pera A, Astegiano M, De Marchi M (2004)
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
https://iris.unito.it/handle/2318/57757

Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M (2002)
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
https://iris.unito.it/handle/2318/59524

Courses

• Genetica Medica (SCB0037B)
  Laurea in Tecnica della Riabilitazione Psichiatrica
• Genetica medica (MSL0102A - MSL0102D)
  Laurea magistrale in Medicina e Chirurgia San Luigi Gonzaga
• Genetica medica - Canale B (MSL0272C)
  Corso di laurea in Infermieristica - Cuneo
• Genetica medica - D.M. 270/04 (SSP0381C)
  Corso di Laurea in Infermieristica - Sede TO4 Ivrea
• Genetica medica can.B (MSL0272C)
  Corso di laurea in Infermieristica - sede Orbassano Polo Medicina Orbassano e Candiolo
• I. Storia, Etica, Ricerca e Deontologia Professionale - canale B (MSL0272)
  Corso di laurea in Infermieristica - sede Orbassano Polo Medicina Orbassano e Candiolo
• I. Storia, etica, ricerca e deontologia professionale - Canale B (MSL0272)
  Corso di laurea in Infermieristica - Cuneo
• Internal Medicine and Medical Genetics (SCB0223)
  MedInTO Medicine and Surgery
• Internal Medicine and Medical Genetics - module of Medical Genetics (SCB0223B)
  MedInTO Medicine and Surgery
• ONC0252E Basic and medical genetics (ONC0252E)
  Artificial Intelligence for Biomedicine and Healthcare
• STORIA, ETICA E DEONTOLOGIA PROFESSIONALE -D.M. 270/04 (SSP0381)
  Corso di Laurea in Infermieristica - Sede TO4 Ivrea
• Scienze biomediche e cliniche (SCB0037)
  Laurea in Tecnica della Riabilitazione Psichiatrica
• Tissue pathophysiology and genetics (ONC0252)
  Artificial Intelligence for Biomedicine and Healthcare

Research projects

• Toll-like receptor polymorphism, Antistreptolysin O, Anti-Deoxyribonuclease B, Anti-Basal Ganglia titers and childhood Beta-hemolytic Group A Streptococcus Infections in adult ADHD patients

Activities in agenda

See my calendar

Academic bodies

• Consiglio di Dipartimento - Dipartimento di Scienze Cliniche e Biologiche

Office hours