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SpringerLink电子期刊(11)

在“SpringerLink电子期刊”中，命中：11条，耗时：小于0.01 秒

在所有数据库中总计命中：23条

1. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

作者： Edoardo Errichiello ; Francesca Novara ; Anna Cremante…

关键词：Array Comparative Genomic Hybridization (array ; CGH) ; Behavioral disorders ; BTG3 (BTG family ; Member 3) ; DNA Copy Number Variations (CNVs) ; GRIK1 (glutamate receptor ; Ionotropic ; Kainate 1) ; Intellectual Disability (ID) ; Partial 21q monosomy ; RBM11 (RNA binding motif protein 11)

刊名：Molecular Cytogenetics

出版年：2016

2. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

作者： Jacopo C. DiFrancesco ; Francesca Novara ; Orsetta Zuffardi…

关键词：Retinal vasculopathy with cerebral leukodystrophy ; TREX1 ; Hereditary systemic angiopathy ; Systemic microangiopathy ; Cerebral calcifications ; Brain pseudotumoral lesion

刊名：Neurological Sciences

出版年：2015

3. Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings

作者：Maurizio Rondinelli (1)
Francesca Novara (2)
Valeria Calcaterra (3)
Orsetta Zuffardi (2) (4)
Stefano Genovese (1)

1. Diabetes Endocrine and Metabolic Diseases Unit ; IRCCS MultiMedica ; 20099 ; Sesto San Giovanni ; Milan ; Italy
2. Department of Molecular Medicine ; University of Pavia ; Pavia ; Italy
3. IRCCS Policlinico San Matteo and University of Pavia ; Pavia ; Italy
4. IRCCS C. Mondino National Institute of Neurology Foundation ; Pavia ; Italy

关键词：Wolfram syndrome 2 ; CISD2 ; ERIS ; ER stress ; Monogenic diabetes

刊名：Acta Diabetologica

出版年：2015

4. Safety and efficacy of vemurafenib in BRAF V600E mutation-positive metastatic melanomas

作者：Andrea P Sponghini (155)
David Rondonotti (155)
Marco Giavarra (155)
Roberto Giorgione (156)
Francesca Platini (155)

155. AOU Maggiore della Carit脿 ; S.C. di Oncologia ; Novara ; Italy
156. AOU Maggiore della Carit脿 ; S.C. di Dermatologia ; Novara ; Italy

刊名：Journal of Translational Medicine

出版年：2015

5. An Air-well sparging minifermenter system for high-throughput protein production

作者：Cecilia Deantonio (1)
Valentina Sedini (1)
Patrizia Cesaro (2)
Fabio Quasso (2)
Diego Cotella (1)
Francesca Persichetti (1)
Claudio Santoro (1)
Daniele Sblattero (1)

1. Department of Health Sciences and Interdisciplinary Research Center on Autoimmune Diseases (IRCAD) ; University of Eastern Piedmont 鈥淎medeo Avogadro鈥? Via Solaroli 17 ; 28100 ; Novara ; Italy
2. Department of Sciences and Innovation ; University of Eastern Piedmont 鈥淎medeo Avogadro鈥? Alessandria ; Italy

关键词：High ; Throughput Protein Production ; Shake ; flask ; E.coli ; Air ; sparging ; Minifermenter

刊名：Microbial Cell Factories

出版年：2014

6. Analysis of human alveolar osteoblast behavior on a nano-hydroxyapatite substrate: an in vitro study

作者：Andrea Pilloni (7)
Giorgio Pompa (6)
Matteo Saccucci (7)
Gabriele Di Carlo (7)
Lia Rimondini (6)
Marina Brama (7)
Blerina Zeza (7)
Francesca Wannenes (7)
Silvia Migliaccio (7)

7. Medical Phatophysiology ; Endocrinology and Nutrition Unit ; Department of Experimental Medicine ; Sapienza University of Rome ; Rome ; Italy
6. Department of Health Sciences ; Laboratory of Biomedical and Dental Materials ; University of Oriental Piedmont 鈥淎medeo Avogadro鈥? Novara ; Italy

关键词：Nanohydroxyapatite ; Human osteoblasts ; Alveolar bone regeneration

刊名：BMC Oral Health

出版年：2014

7. In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients

作者：Enrico Lucarelli (19)
Chiara Bellotti (19) (24)
Melissa Mantelli (20)
Maria Antonietta Avanzini (20)
Rita Maccario (20)
Francesca Novara (21)
Giulia Arrigo (21)
Orsetta Zuffardi (21)
Monia Zuntini (22)
Martina Pandolfi (22)
Luca Sangiorgi (22)
Daniela Lisini (23)
Davide Donati (24) (25)
Serena Duchi (19) (24)

19. Osteoarticolar Regeneration Laboratory ; Rizzoli Orthopaedic Institute ; Bologna ; Italy
24. Department of Biomedical and Neuromotor Sciences (DIBINEM) ; Alma Mater Studiorum University of Bologna ; Bologna ; Italy
20. Immunology and Transplantation Laboratory/Cell Factory/ Pediatric Oncohematology ; Fondazione IRCCS Policlinico S. Matteo ; Pavia ; Italy
21. Department of Molecular Medicine ; University of Pavia ; Pavia ; Italy
22. Department of Medical Genetics and Skeletal Rare Diseases ; Rizzoli Orthopaedic Institute ; Bologna ; Italy
23. Cell Therapy Production Unit (UPTC) ; IRCCS Neurologic Institute C. Besta Foundation ; Milano ; Italy
25. Osteoarticular Regeneration Laboratory ; 3rd Clinic of Orthopaedics and Traumatology ; Rizzoli Orthopaedic Institute ; Bologna ; Italy

关键词：Ewing sarcoma (EWS) ; Mesenchymal stem cells (MSCs) ; Osteosarcoma (OS) ; Tissue regeneration ; Tumorigenic transformation

刊名：Journal of Translational Medicine

出版年：2014

8. MECP2 duplication phenotype in symptomatic females: report of three further cases

作者：Francesca Novara (1)
Alessandro Simonati (2)
Federico Sicca (3)
Roberta Battini (3)
Simona Fiori (3)
Annarita Contaldo (3)
Lucia Criscuolo (2)
Orsetta Zuffardi (1)
Roberto Ciccone (1) (4)

关键词：MECP2 ; Xq28 duplication ; X chromosome inactivation

刊名：Molecular Cytogenetics

出版年：2014

9. Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy

作者：Massimo Mastrangelo (1558) (7558)
Angela Peron (2558)
Luigina Spaccini (2558)
Francesca Novara (3558)
Barbara Scelsa (1558)
Paola Introvini (4558)
Federico Raviglione (1558)
Stefano Faiola (5558)
Orsetta Zuffardi (3558) (6558)

关键词：neonatal encephalopathy ; STXBP1 ; SPTAN1 ; neonatal seizures ; EEG pattern ; hypsarrhythmia

刊名：Epileptic Disorders

出版年：2013

10.Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood

作者：Francesca Novara ; Silvana Beri ; Maria Ester Bernardo ; Riccardo Bellazzi ; Alberto Malovini ; Roberto Ciccone ; Angela Maria Cometa ; Franco Locatelli ; Roberto Giorda and Orsetta Zuffardi

刊名：Human Genetics

出版年：2009

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