Risultati ricerca pubblicazioni

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

pubblicato su: AMERICAN JOURNAL OF HUMAN GENETICS - 2019

Zhao Yingjie, Diacou Alexander, Johnston H Richard, Musfee Fadi I, McDonald-McGinn Donna M, Mcginn Daniel, Crowley T Blaine, Repetto Gabriela M, Swillen Ann, Breckpot Jeroen, Vermeesch Joris R, Kates Wendy R, Digilio M Cristina, Unolt Marta, Marino Bruno, Pontillo Maria, Armando Marco, DI FABIO Fabio, Vicari Stefano, van den Bree Marianne, Moss Hayley, Owen Michael J, Murphy Kieran C, Murphy Clodagh M, Murphy Declan, Schoch Kelly, Shashi Vandana, Tassone Flora, Simon Tony J, Shprintzen Robert J, Campbell Linda, Philip Nicole, Heine-Suñer Damian, García-Miñaúr Sixto, Fernández Luis, Bearden Carrie E, Vingerhoets Claudia, van Amelsvoort Therese, Eliez Stephan, Schneider Maude, Vorstman Jacob A S, Gothelf Doron, Zackai Elaine, Agopian A J, Gur Raquel E, Bassett Anne S, Emanuel Beverly S, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Morrow Bernice E

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

pubblicato su: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS - 2017

Calcagni Giulio, Unolt Marta, Digilio Maria Cristina, Baban Anwar, Versacci Paolo, Tartaglia Marco, Baldini Antonio, Marino Bruno

Genome-wide association study to find modifiers for tetralogy of fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3

pubblicato su: CIRCULATION, CARDIOVASCULAR GENETICS - 2017

Guo Tingwei, Repetto Gabriela M., McDonald McGinn Donna M., Chung Jonathan H., Nomaru Hiroko, Campbell Christopher L., Blonska Anna, Bassett Anne S., Chow Eva W. C., Mlynarski Elisabeth E., Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E., Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E., Digilio M. Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E., Piotrowicz Ma?gorzata, Hawu?a Wanda, Roberts Amy E., Tassone Flora, Simon Tony J., Van Duin Esther D. A., Van Amelsvoort Thérèse A., Kates Wendy R., Zackai Elaine, Johnston H. Richard, Cutler David J., Agopian A. J., Goldmuntz Elizabeth, Mitchell Laura E., Wang Tao, Emanuel Beverly S., Morrow Bernice E.

Attentional functioning in individuals with 22q11 deletion syndrome. Insight from ERPs

pubblicato su: JOURNAL OF NEURAL TRANSMISSION - 2018

Mannarelli Daniela, Pauletti Caterina, Accinni Tommaso, Carlone Luca, Frascarelli Marianna, Lattanzi Guido Maria, Currà Antonio, Fattapposta Francesco

Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

pubblicato su: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY - 2020

Cirillo E., Giardino G., Ricci S., Moschese V., Lougaris V., Conti F., Azzari C., Barzaghi F., Canessa C., Martire B., Badolato R., Dotta L., Soresina A., Cancrini C., Finocchi A., Montin D., Romano R., Amodio D., Ferrua F., Tommasini A., Baselli L. A., Dellepiane R. M., Polizzi A., Chessa L., Marzollo A., Cicalese M. P., Putti M. C., Pession A., Aiuti A., Locatelli F., Plebani A., Pignata C.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

pubblicato su: AMERICAN JOURNAL OF HUMAN GENETICS - 2020

Zhao Y., Diacou A., Johnston H. R., Musfee F. I., McDonald-McGinn D. M., McGinn D., Crowley T. B., Repetto G. M., Swillen A., Breckpot J., Vermeesch J. R., Kates W. R., Digilio M. C., Unolt M., Marino B., Pontillo M., Armando M., Di Fabio Fabio, Vicari S., van den Bree M., Moss H., Owen M. J., Murphy K. C., Murphy C. M., Murphy D., Schoch K., Shashi V., Tassone F., Simon T. J., Shprintzen R. J., Campbell L., Philip N., Heine-Suner D., Garcia-Minaur S., Fernandez L., Antonarakis S. E., Biondi M., Boot E., Breetvelt E., Busa T., Butcher N., Buzzanca A., Carmel M., Cleynen I., Cutler D., Dallapiccola B., de la Fuente Sanches M. A., Epstein M. P., Evers R., Fernandez L., Fritsch R., Algas F. G., Guo T., Gur R., Hestand M. S., Heung T., Hooper S., Jin A., Kushan-Wells L., Laorden-Nieto A. T., Lattanzi G., Marshall C., McCabe K., Michaelovsky E., Ornstein C., Silversides C., Tran O., van Duin E. D. A., Vergaelen E., Warren S. T., Weinberger R., Weizman A., Zhang Z., Zwick M., Bearden C. E., Vingerhoets C., van Amelsvoort T., Eliez S., Schneider M., Vorstman J. A. S., Gothelf D., Zackai E., Agopian A. J., Gur R. E., Bassett A. S., Emanuel B. S., Goldmuntz E., Mitchell L. E., Wang T., Morrow B. E.