Cesare Danesino

irccs fondazione casimiro mondino

H指数:55

被引数:9,484

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Sleep disorders in adults with Cri du Chat syndrome: A questionnaire-based study

成年Cri du Chat综合征患者中的睡眠障碍：一项基于问卷的研究

Sleep Medicine

IF3.4

2026-09-010

OAAI

Bellone, Giulia; Di Napoli, Anteo; Zilioli, Chiara; Telch, Asia; Brughitta, Cecilia; Evangelisti, Melania; Moavero, Romina; Bruni, Oliviero; Liguori, Claudio; Agostini, Beatrice; Baldo, Chiara; Canistro, Evelyn; Cecili, Manuela; Cistaro, Angelina; Corrado, Michele; Danesino, Cesare; Del Pozzo, Marco; Di Carlo, Sara; Di Maio, Adele; Di Nardo, Giovanni; Fiorita, Fiore; Foiadelli, Thomas; Forlani, Martina; Liverani, Maria Elena; Malacarne, Michela; Mauri, Sabrina; Mennini, Maurizio; Orsini, Alessandro; Piovani, Giovanna; Politano, Davide; Schiera, Irene Giovanna; Sforza, Elisabetta; Tognon, Fabio; Zampini, Sabrina; Striano, Pasquale; Guala, Andrea; Parisi, Pasquale; Ferretti, Alessandro

Clinical and instrumental phenotyping of gait in subjects with Cri du Chat syndrome

Cri du Chat综合征患者步态的临床与仪器表型分析

Journal of NeuroEngineering and Rehabilitation

IF5.2

2026-08-250

Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Elongation Factor-Like 1（EFL1）基因纯合致病变异作为巴氏综合征2型在一名巴勒斯坦儿童中的致病因素，并伴有独特的眼部表现

Molecular Genetics & Genomic Medicine

IF1.6

2026-04-270

OAAI

Sleep disorders in children with Cri du Chat syndrome: A questionnaire-based study

克里-杜-沙特综合征患儿的睡眠障碍：一项基于问卷调查的研究

Sleep Medicine

IF3.4

2026-04-270

OAAI

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review

连接KMT5B相关综合征的基因型与表型：来自RNA-Seq、18FDG-PET、临床深度表型分析在两例新病例中的应用及文献综述

Genes 2025, Vol. 16, Page 1174

IF0

2025-10-090

OAAI

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2024-12-030

PRE

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

JOURNAL OF APPLIED PHYSIOLOGY

IF3.3

2021-12-014

PRE

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-12-1432

OAAI

A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome

JOURNAL OF PEDIATRICS

IF3.5

2020-04-0127

PREAI

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

肺动脉高压中GDF2突变和BMP9和BMP10水平的表征

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

IF19.4

2020-03-0187

OAAI

Hodgson, Joshua; Swietlik, Emilia M.; Salmon, Richard M.; Hadinnapola, Charaka; Nikolic, Ivana; Wharton, John; Guo, Jingxu; Liley, James; Haimel, Matthias; Bleda, Marta; Southgate, Laura; Machado, Rajiv D.; Martin, Jennifer M.; Treacy, Carmen M.; Yates, Katherine; Daugherty, Louise C.; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Bogaard, Harm J.; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Houweling, Arjan C.; Howard, Luke; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Olschewski, Andrea; Olschewski, Horst; Ouwehand, Willem H.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J.; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark R.; Trembath, Richard C.; Noordegraaf, Anton Vonk; Wort, Stephen J.; Wilkins, Martin R.; Yu, Paul B.; Li, Wei; Graef, Stefan; Upton, Paul D.; Morrell, Nicholas W.

18F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome

JOURNAL OF NUCLEAR MEDICINE

IF9.1

2019-12-134

OAAI

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

肺动脉高压风险的遗传决定因素: 国际全基因组关联研究和荟萃分析

LANCET RESPIRATORY MEDICINE

IF32.8

2019-03-01128

OAAI

Rhodes, Christopher J.; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W.; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B.; Karnes, Jason H.; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars; Cebola, Ines; Ferrer, Jorge; Lutz, Katie; Swietlik, Emilia M.; Ahmad, Ferhaan; Amouyel, Philippe; Archer, Stephen L.; Argula, Rahul; Austin, Eric D.; Badesch, David; Bakshi, Sahil; Barnett, Christopher; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J.; Burger, Charles D.; Chakinala, Murali; Church, Colin; Coghlan, John G.; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Debette, Stephanie; Elliott, C. Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P.; Frost, Adaani; Garcia, Joe G. N.; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Harley, John; He, Hua; Hill, Nicholas S.; Hirsch, Russel; Houweling, Arjan C.; Howard, Luke S.; Ivy, Dunbar; Kiely, David G.; Klinger, James; Kovacs, Gabor; Lahm, Tim; Laudes, Matthias; Machado, Rajiv D.; Ross, Robert V. MacKenzie; Marsolo, Keith; Martin, Lisa J.; Moledina, Shahin; Montani, David; Nathan, Steven D.; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Oudiz, Ronald J.; Ouwehand, Willem H.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Rehman, Zia; Robbins, Ivan; Roden, Dan M.; Rosenzweig, Erika B.; Saydain, Ghulam; Scelsi, Laura; Schilz, Robert; Seeger, Werner; Shaffer, Christian M.; Simms, Robert W.; Simon, Marc; Sitbon, Olivier; Suntharalingam, Jay; Tang, Haiyang; Tchourbanov, Alexander Y.; Thenappan, Thenappan; Torres, Fernando; Toshner, Mark R.; Treacy, Carmen M.; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Walsworth, Anna K.; Walter, Robert E.; Wharton, John; White, R. James; Wilt, Jeffrey; Wort, Stephen J.; Yung, Delphine; Lawrie, Allan; Humbert, Marc; Soubrier, Florent; Tregouet, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Graf, Stefan; Nichols, William C.; Trembath, Richard C.; Desai, Ankit A.; Morrell, Nicholas W.; Wilkins, Martin R.; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; Bakchoul, Tamam; Bariana, Tadbir; Barwell, Julian; Bennett, David; Bentley, David; Bierzynska, Agnieszka; Biss, Tina; Bogaard, Harm; Bourne, Christian; Boyce, Sara; Bradley, John; Breen, Gerome; Brennan, Paul; Brewer, Carole; Brown, Matthew; Browning, Michael; Buchan, Rachel; Buckland, Matthew; Bueser, Teofila; Burns, Siobhan; Burren, Oliver; Calleja, Paul; Carr-White, Gerald; Carss, Keren; Casey, Ruth; Caulfield, Mark; Chambers, John; Chambers, Jennifer; Cheng, Floria; Chinnery, Patrick F.; Christian, Martin; Brod, Naomi Clements; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor; Collins, Janine; Collins, Peter; Colombo, Camilla; Cook, Stuart; Cook, Terry; Cooper, Nichola; Corris, Paul; Crisp-Hihn, Abigail; Curry, Nicola; Daniels, Matthew; Daugherty, Louise; Davis, John; Deevi, Sri V. V.; Dent, Timothy; Dewhurst, Eleanor; Dixon, Peter; Downes, Kate; Drazyk, Anna; Drewe, Elizabeth; Dutt, Tina; Edgar, David; Edwards, Karen; Egner, William; Erber, Wendy; Erwood, Marie; Estiu, Maria C.; Evans, Gillian; Evans, Dafydd Gareth; Everington, Tamara; Eyries, Mlanie; Favier, Remi; Fletcher, Debra; Fox, James; Frary, Amy; French, Courtney; Freson, Kathleen; Frontini, Mattia; Gale, Daniel; Geoghegan, Claire; Gerighty, Terry; Gibbs, Simon; Gilmour, Kimberley; Goddard, Sarah; Gomez, Keith; Gordins, Pavels; Gosal, David; Grassi, Luigi; Greene, Daniel; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip; Grigoriadou, Sofia; Grocock, Russell; Grozeva, Detelina; Hackett, Scott; Hague, William; Hall, Matthew; Hanson, Helen; Harkness, Kirsty; Harper, Andrew; Harris, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Henderson, Alex; Hoffmann, Jonathan; Horvath, Rita; Houweling, Arjan; Howard, Luke; Hu, Fengyuan; Hudson, Gavin; Hughes, Joseph; Huissoon, Aarnoud; Humphray, Sean; Hunter, Sarah; Hurles, Matthew; Izatt, Louise; James, Roger; Johnson, Sally; Jolles, Stephen; Jolley, Jennifer; Jurkute, Neringa; Kasanicki, Mary; Kazkaz, Hanadi; Kazmi, Rashid; Kelleher, Peter; Kiely, David; Kingston, Nathalie; Klima, Robert; Kostadima, Myrto; Koziell, Ania; Kreuzhuber, Roman; Kuijpers, Taco; Kumar, Ajith; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael; Lalloo, Fiona; Lambert, Michele; Allen, Hana Lango; Layton, Mark; Lentaigne, Claire; Levine, Adam; Linger, Rachel; Longhurst, Hilary; Louka, Eleni; Ross, Robert MacKenzie; Madan, Bella; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Mapeta, Rutendo; Marchbank, Kevin; Marks, Stephen; Markus, Hugh S.; Marschall, Hanns-Ulrich; Marshall, Andrew; Martin, Jennifer; Mathias, Mary; Matthews, Emma; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark; Meacham, Stuart; Mead, Adam; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn; Moore, Tony; Morrell, Nicholas; Mozere, Monika; Muir, Keith; Mumford, Andrew; O'Sullivan, Jennifer; Obaji, Samya; Okoli, Steven; Ong, Kai Ren; Ormondroyd, Elizabeth; Ouwehand, Willem; Papadia, Sofia; Park, Soo-Mi; Parry, David; Paterson, Joan; Peacock, Andrew; Peden, John; Peerlinck, Kathelijne; Penkett, Christopher; Petersen, Romina; Pyle, Angela; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rayner-Matthews, Paula; Rees, Christine; Rendon, Augusto; Renton, Tara; Rice, Andrew; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Roughley, Catherine; Roy, Noemi; Sadeghi-Alavijeh, Omid; Saleem, Moin; Samani, Nilesh; Sanchis-Juan, Alba; Sargur, Ravishankar; Satchell, Simon; Savic, Sinisa; Schulman, Sol; Scully, Marie; Searle, Claire; Sewell, Carrock; Seyres, Denis; Shapiro, Susie; Sharmardina, Olga; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simeoni, Ilenia; Simpson, Michael; Sivapalaratnam, Suthesh; Skytte, Anne-Bine; Smith, Katherine; Smith, Kenneth G. C.; Snape, Katie; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Swietlik, Emilia; Tait, R. Campbell; Talks, Kate; Tan, Rhea; Thaventhiran, James; Themistocleous, Andreas; Thomas, Moira; Thomson, Kate; Thrasher, Adrian; Thys, Chantal; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Traylor, Matthew; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Vale, Tom; Van Geet, Chris; Van Zuydam, Natalie; Vazquez-Lopez, Marta; Von Ziegenweidt, Julie; Waisfisz, Quintin; Walker, Suellen; Ware, James; Watkins, Hugh; Watt, Christopher; Webster, Andrew; Wei, Wei; Welch, Steven; Wessels, Julie; Westbury, Sarah; Westwood, John-Paul; Whitehorn, Deborah; Whitworth, James; Williamson, Catherine; Wong, Edwin; Wood, Nicholas; Wood, Yvette; Woods, Geoff; Woodward, Emma; Wort, Stephen; Worth, Austen; Yates, Katherine; Yong, Patrick; Young, Tim; Yu, Ping; Yu-Wai-Man, Patrick; Theuer, Alison; Malur, Anagha; Williams, Ann; Dotson, Anne; Warden, Ashley; Harrington, Brandy; Vang, Brenda; Ziemak, Caitlin; Casanova, Nancy; Caskey, Elizabeth; MacDonald, Catherine; Rowley, Courtney; Larimore, Daniel; Brady, Daniela; Tomer, David; Davis, Anne; Broach, Debra; Devereux, Jane; Lovato, Ellen; Stratton, Eric; Turk, Erin; Jackson, Esperanza; Paciotti, Gina; Peichel, Gretchen; Birru, Hellina; del Junco, Holly; Ingledue, Rebecca; Bruno, Jackie; Drake, Jan; Marks, Jennifer; Pisarcik, Jessica; Spears, Jill; Santiago, Joseph; DeMartino, Jordyn; Beckmann, Joy; Palmer, Julia; Visnaw, Karen; Kennedy, Karla; Lewis, Karlise; Miller-Reed, Kathleen; Hannon, Kelly; McClain, Kimberly; Dillon, Laura; Olanipekun, Lekan; Mendibles, Lillian; Hawke, Lindsey; Brody, Linnea; Durst, Louise; Andrews, Mary; Allahua, Melissa; Stratoberdha, Melissa; Lemma, Merte; Cope, Molly; Franzo, Mya; Feliz, Natalia; Hawkes, Nicholas; Norwood, Tracy; Wilson, Opal; Palmisciano, Amy; Gruhlke, Peggy; Correa, Priscilla; Blake, Randy; Karnekar, Reema; Do, Robyn; Rohwer, Kristal; Ahmed, Sara; Schiltz, Kimberly; Scovel, Page; Cordell, Shannon; Heuerman, Sharon; Ahmad, Shazzra; Szuberla, Sylwia; Roads, Tammy; Iem, Thoeun; Mcgaha, Traci; Urban, Tracy; Aston, Valerie; Ayesh, Waleed; Light, Allison; Arkon, Abby; Tavlarides, Andrea; Anderson, Audrey; Bindu, John; Boekwig, Deedre; Singleton, Donna; Abrea, Inna; Lee, Jennifer; Ormiston, Mark; Whitman, Renesa; Holy, Royanne; Almeida-Peters, Sisama; Igenoza, Tosin; Farber, Hap; Reponen, Auvo; Barve, Mukta; Gygi, Amber; Winslow, Clayborne

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

鉴定遗传性肺动脉高压的罕见序列变异

NATURE COMMUNICATIONS

IF15.7

2018-04-12268

OAAI

Graf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; Liu, Bin; Salmon, Richard M.; Southwood, Mark; Machado, Rajiv D.; Martin, Jennifer M.; Treacy, Carmen M.; Yates, Katherine; Daugherty, Louise C.; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Aldred, Micheala; Bogaard, Harm J.; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Houweling, Arjan C.; Howard, Luke; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew J.; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J.; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Stein, Dan F.; Suntharalingam, Jay; Swietlik, Emilia M.; Toshner, Mark R.; van Heel, David A.; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Wharton, John; Wort, Stephen J.; Ouwehand, Willem H.; Soranzo, Nicole; Lawrie, Allan; Upton, Paul D.; Wilkins, Martin R.; Trembath, Richard C.; Morrell, Nicholas W.

Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2018-02-0915

OAAI

Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia

INTERNATIONAL JOURNAL OF PHARMACEUTICS

IF5.2

2016-11-0131

OAAI

Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene

GENES CHROMOSOMES & CANCER