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在“Elsevier电子期刊”中，命中：48条，耗时：小于0.01 秒

在所有数据库中总计命中：5条

1.CYP21A2 genetics: When genotype does not fit phenotype

作者：Ilaria Sani^a ; Aurora Natalia Rossodivita^a ; Michela Mariani^a ; Alessandra Costella^b ; Rossana Molinario^b ; Paola Concolino^b ; ^{paolaconcolino78@libero.it" class="auth_mail" title="E-mail the corresponding author} ; Ettore Capoluongo^b

关键词：CAH ; congenital adrenal hyperplasia ; SW ; salt wasting syndrome

刊名：Clinical Biochemistry

出版年：2016

2.The Italian pilot external quality assessment program for cystic fibrosis sweat test

作者：Marco Salvatore^a ; ^{marco.salvatore@iss.it" class="auth_mail" title="E-mail the corresponding author} ; Giovanna Floridia^a ; Annalisa Amato^a ; Federica Censi^a ; Claudio Carta^a ; Maria Chiara de Stefano^a ; Gianluca Ferrari^a ; Fabrizio Tosto^a ; Ettore Capoluongo^b ; Ubaldo Caruso^c ; Giuseppe Castaldo^d ; ^e ; Natalia Cirilli^f ; Carlo Corbetta^g ; Rita Padoan^h ; Valeria Raiaⁱ ; Domenica Taruscio^a

关键词：EQA ; external quality assessment ; ST ; sweat test ; CF ; cystic fibrosis ; CFTR ; cystic fibrosis transmembrane regulator ; ISS ; Istituto Superiore di Sanità ; CNMR ; National Centre for Rare Diseases ; SIFC ; Italian Cystic Fibrosis Society ; SIMMESN ; Italian Society for the Study of Inborn Metabolic Diseases and Newborn Screening ; SIBiOC ; Italian Society of Clinical Biochemistry and Clinical Molecular Biology ; ID ; Identification Number ; SLS ; sweat like samples ; NA ; not assessable

刊名：Clinical Biochemistry

出版年：2016

3.Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years

作者：Paola Concolino ; ^{paolaconcolino78@libero.it" class="auth_mail" title="E-mail the corresponding author} ; Alessandra Costella ; Ettore Capoluongo

关键词：MEN1 ; cancer ; mutations ; molecular diagnosis ; variants

刊名：Cancer Genetics

出版年：2016

4.Red blood cell PK deficiency: An update of PK-LR gene mutation database

作者：Giulia Canu ; ^{giuliacanu@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Maria De Bonis ; Angelo Minucci ; ^{angelo.minucci@virgilio.it" class="auth_mail" title="E-mail the corresponding author} ; ^{angelo.minucci@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author} ; Ettore Capoluongo

关键词：PK-LR ; pyruvate kinase liver and red blood cells ; PK-M ; pyruvate kinase muscle ; CNSHA ; chronic nonspherocytic hemolytic anemia ; RBCs ; red blood cells ; LOVD ; Leiden Open Variants Database ; HGMD ; Human Gene Mutation Database

刊名：Blood Cells, Molecules and Diseases

出版年：2016

5.Effect of prenatal steroidal inhibition of sPLA2 in a rat model of preterm lung

作者：Ana Remesal^a ; ¹ ; Daniele De Luca^b ; ^c ; ¹ ; ^{daniele.deluca@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Laura San Feliciano^a ; Maria Isidoro-Garcia^d ; Angelo Minucci^c ; Krizia Pocino^c ; Josefina Casas^e ; Gemma Fabrias^e ; Ettore D. Capoluongo^c ; Dolores Ludena de la Cruz^a

关键词：Preterm neonate ; Rat ; Secretory phospholipase A2 ; Steroids ; Surfactant

刊名：Pulmonary Pharmacology & Therapeutics

出版年：2016

6.Serum levels of C-terminal agrin fragment (CAF) are associated with sarcopenia in older multimorbid community-dwellers: Results from the ilSIRENTE study

作者：Francesco Landi^a ; ^{francesco.landi@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author} ; Riccardo Calvani^a ; Maria Lorenzi^a ; Anna Maria Martone^a ; Matteo Tosato^a ; Michael Drey^b ; Emanuela D'Angelo^a ; Ettore Capoluongo^c ; Andrea Russo^d ; Roberto Bernabei^a ; Graziano Onder^a ; Emanuele Marzetti^a ; ^{emarzetti@live.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Aging ; Frailty ; Biomarkers ; Skeletal muscle ; Muscle wasting ; Functional impairment ; Physical performance ; Co-morbidity ; Anthropometry ; Neuromuscular junction ; Mid-arm muscle circumference ; Handgrip ; Gait speed ; Renal failure

刊名：Experimental Gerontology

出版年：2016

7.PCA3 score of 20 could improve prostate cancer detection: Results obtained on 734 Italian individuals

作者：Ettore Capoluongo ; Carlo Federico Zambon ; Daniela Basso ; Stefania Boccia ; S ; ro Rocchetti ; Emanuele Leoncini ; Sara Palumbo ; Andrea Padoan ; Giuseppe Albino ; Angelo Todaro ; Tommaso Prayer-Galetti ; Filiberto Zattoni ; Cecilia Zuppi ; Mario Plebani

关键词：PCA3 score ; Progensa ; PCa

刊名：Clinica Chimica Acta

出版年：15 February, 2014

8.DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism

作者：Angelo Minucci^a ; ^{angelo.minucci@virgilio.it" class="auth_mail} ; ^{angelo.minucci@rm.unicatt.it" class="auth_mail} ; Giulia Canu^a ; Paola Concolino^a ; Donatella Guarino^a ; Stefania Boccia^b ; Silvana Ficarra^c ; Cecilia Zuppi^a ; Bruno Giardina^a ; Ettore Capoluongo^a ; ^{ecapoluongo@rm.unicatt.it" class="auth_mail}

关键词：ACE ; angiotensin-converting enzyme ; RAA ; renin&ndash ; angiotensin&ndash ; aldosterone ; I/D ; insertion/deletion ; bp ; base pair ; HRMA ; high resolution melting analysis ; PCR ; polymerase chain reaction ; Ta ; annealing temperature ; Tm ; melting temperature

刊名：Clinica Chimica Acta

出版年：20 April, 2014

9.Calf circumference, frailty and physical performance among older adults living in the community

作者：Francesco Landi^a ; ^{francesco_landi@rm.unicatt.it" class="auth_mail} ; Graziano Onder^a ; Andrea Russo^a ; Rosa Liperoti^a ; Matteo Tosato^a ; Anna Maria Martone^a ; Ettore Capoluongo^b ; Roberto Bernabei^a

关键词：Calf circumference ; Physical performance ; Frail elderly

刊名：Clinical Nutrition

出版年：June 2014

10.Comments to 鈥淎 rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency鈥?/span>

作者：Paola Concolino ; Enrica Mello ; Aurora Rossodivita ; Bruno Giardina ; Ettore Capoluongo

关键词：ASO-PCR ; Allele-specific oligonucleotide polymerase chain reaction ; MLPA ; Multiplex ligation-dependent Probe Amplification ; CAH ; Congenital adrenal hyperplasia ; RPA ; Relative peak area

刊名：Gene

出版年：25 January, 2014

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