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SpringerLink电子期刊(8)

在“SpringerLink电子期刊”中，命中：8条，耗时：小于0.01 秒

在所有数据库中总计命中：12条

1. Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

作者： Marco Ritelli ; Nicola Chiarelli ; Chiara Dordoni ; Stefano Quinzani…

关键词：Loeys ; Dietz syndrome type 4 ; TGFB2 ; TGF ; ?2 ; Splicing mutation

刊名：BMC Medical Genetics

出版年：2014

2. Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

作者：Marco Ritelli (1)
Nicola Chiarelli (1)
Chiara Dordoni (1)
Elena Reffo (2)
Marina Venturini (3)
Stefano Quinzani (1)
Matteo Della Monica (4)
Gioacchino Scarano (4)
Giuseppe Santoro (5)
Maria Giovanna Russo (5)
Piergiacomo Calzavara-Pinton (3)
Ornella Milanesi (2)
Marina Colombi (1)

1. Division of Biology and Genetics ; Department of Molecular and Translational Medicine ; School of Medicine ; University of Brescia ; Viale Europa 11 ; 25123 ; Brescia ; Italy
2. Pediatric Cardiology ; Department of Pediatrics ; University of Padova ; School of Medicine ; Padova ; Italy
3. Division of Dermatology ; Department of Clinical and Experimental Sciences ; Spedali Civili University Hospital ; Brescia ; Italy
4. Unit脿 Operativa di Genetica Medica ; Ospedale Gaetano Rummo ; Benevento ; Italy
5. Pediatric Cardiology ; A.O.R.N. Ospedale dei Colli ; II University of Naples ; Naples ; Italy

关键词：Arterial Tortuosity Syndrome ; SLC2A10 ; Homozygous mutations ; Pulmonary artery stenosis

刊名：BMC Medical Genetics

出版年：2014

3. Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

作者：Guido Jeannin (1)
Nicola Chiarelli (2)
Mario Gaggiotti (1)
Marco Ritelli (2)
Paolo Maiorca (1)
Stefano Quinzani (2)
Federica Verzeletti (1)
Stefano Possenti (1)
Marina Colombi (2)
Giovanni Cancarini (1)

关键词：Renal hypouricemia ; Exercise ; induced acute renal failure ; SLC2A9 mutations ; p.Arg380Trp ; p.Gly216Arg

刊名：BMC Medical Genetics

出版年：2014

4. Evaluation of association between airway hyperresponsiveness, asthma control test, and asthma therapy assessment questionnaire in asthmatic children

作者：Daniele Rapino (1)
Marina Attanasi (1)
Nicola P Consilvio (1)
Alessandra Scaparrotta (1)
Anna Cingolani (1)
Marzia Cerasa (1)
Angelika Mohn (2)
Sabrina Di Pillo (1)
Francesco Chiarelli (2)

关键词：Asthma ; Asthma control ; ACT ; ATAQ ; Airways hyperresponsiveness

刊名：Multidisciplinary Respiratory Medicine

出版年：2013

5. Sensitization to timothy grass pollen allergenic molecules in children

作者：Alessandra Scaparrotta (1)
Marcello Verini (1)
Nicola Pietro Consilvio (1)
Anna Cingolani (1)
Daniele Rapino (1)
Marina Attanasi (1)
Marzia Cerasa (1)
Sabrina Di Pillo (1)
Francesco Chiarelli (1)

关键词：Children ; Grass pollen allergy ; Phleum pratense ; Recombinant allergen ; rPhl p 1 ; rPhl p 5

刊名：Multidisciplinary Respiratory Medicine

出版年：2013

6. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

作者：Marco Ritelli (1)
Chiara Dordoni (1)
Marina Venturini (2)
Nicola Chiarelli (1)
Stefano Quinzani (1)
Michele Traversa (1)
Nicoletta Zoppi (1)
Annalisa Vascellaro (2)
Anita Wischmeijer (3) (4)
Emanuela Manfredini (5)
Livia Garavelli (3)
Piergiacomo Calzavara-Pinton (2)
Marina Colombi (1)

关键词：Classic Ehlers–Danlos syndrome ; COL5A1 ; COL5A2 ; COL1A1 ; MLPA ; Diagnostic flowchart

刊名：Orphanet Journal of Rare Diseases

出版年：2013

7. Montelukast versus inhaled corticosteroids in the management of pediatric mild persistent asthma

作者：Alessandra Scaparrotta (1)
Sabrina Di Pillo (1)
Marina Attanasi (1)
Daniele Rapino (1)
Anna Cingolani (1)
Nicola Pietro Consilvio (1)
Marcello Verini (1)
Francesco Chiarelli (2)

关键词：Childhood asthma ; Inhaled corticosteroids ; Leukotriene receptor antagonist ; Montelukast

刊名：Multidisciplinary Respiratory Medicine

出版年：2012

8. Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy

作者：Sophie Guez (1)
Gabriella Chiarelli (1)
Francesca Menni (1)
Simona Salera (1)
Nicola Principi (1)
Susanna Esposito (1)

关键词：Anemia ; Iron deficiency ; Neurological problems ; Vegan diet ; Vegan mothers ; Vitamin B12 deficiency

刊名：BMC Pediatrics

出版年：2012

按检索点细分(8)

作者(8)

按出版年细分(8)

2014年(3)

2013年(3)

2012年(2)

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