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在“Elsevier电子期刊”中，命中：22条，耗时：小于0.01 秒

在所有数据库中总计命中：3条

1.Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

作者：Luigi Laino^a ; ^{luigi.laino@uniroma1.it" class="auth_mail" title="E-mail the corresponding author} ; Irene Bottillo^a ; Caterina Piedimonte^b ; Laura Bernardini^c ; Barbara Torres^c ; Barbara Grammatico^a ; Simone Bargiacchi^a ; Claudia Mulargia^a ; Mauro Calvani^d ; Francesco Cardona^b ; Marco Castori^a ; Paola Grammatico^a

关键词：Duplication ; Facial dysmorphism ; Intragenic ; IL1RAPL1 ; X-linked intellectual disability

刊名：European Journal of Paediatric Neurology

出版年：2016

2.A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

作者：Irene Bottillo^a ; ^{i.bottillo@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Carla Giordano^b ; Bruna Cerbelli^b ; Daniela D'Angelantonio^a ; Martina Lipari^a ; Taisia Polidori^a ; Silvia Majore^a ; Enrico Bertini^c ; Adele D'Amico^c ; Diana Giannarelli^d ; Carmelilia De Bernardo^a ; Laura Masuelli^e ; Francesco Musumeci^f ; Andrea Avella^g ; Federica Re^g ; Elisabetta Zachara^g ; Giulia d'Amati^b ; Paola Grammatico^a

关键词：CK ; creatine kinase ; DD ; Danon disease ; ECG ; electrocardiogram ; EF ; ejection fraction ; ICD ; Implantable Cardioverter Defibrillator ; LVH ; left ventricle hypertrophy ; MRI ; Magnetic Resonance Imaging ; NSVT ; Nonsustained Ventricular Tachycardia ; VAD ; Ventricular Assist Device ; WPW ; Wolff&ndash ; Parkinson&ndash ; White ; XCI ; X-chromosome inactivation

刊名：Cardiovascular Pathology

出版年：2016

3.Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy

作者：Irene Bottillo^a ; ^{i.bottillo@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Daniela D'Angelantonio^a ; Viviana Caputo^b ; Alessandro Paiardini^c ; Martina Lipari^a ; Carmelilia De Bernardo^a ; Diana Giannarelli^d ; Antonio Pizzuti^b ; Silvia Majore^a ; Marco Castori^a ; Elisabetta Zachara^e ; Federica Re^e ; Paola Grammatico^a

关键词：HCM ; hypertrophic cardiomyopathy ; DCM ; dilatative cardiomyopathy ; RCM ; restrictive cardiomyopathy ; ARVC ; arrhythmogenic right ventricular cardiomyopathy ; NGS ; next generation sequencing ; NsSNV ; non-synonymous single nucleotide variant ; ECG ; electrocardiography ; CMRI ; cardiac magnetic resonance ; SCD ; sudden cardiac death ; NSVT ; non-sustained ventricular tachycardia ; SIFT ; sorting intolerant from tolerant ; PolyPhen-2 ; polymorphism phenotyping v2 ; GERP ; genomic evolutionary rate profiling ; RMSD ; ro

刊名：Gene

出版年：2016

4.A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma

作者：Lucia Pedace ; ¹ ; ^{pedacelucia@gmail.com" class="auth_mail} ; Angela M. Cozzolino¹ ; Luana Barboni ; Carmelilia De Bernardo ; Paola Grammatico

刊名：Cancer Genetics

出版年：April 2014

5.Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study

作者：Nicoletta Resta^a ; ^{nicoletta.resta@uniba.it} ; Daniela Pierannunzio^b ; Gennaro Mariano Lenato^c ; Alessandro Stella^a ; Riccardo Capocaccia^b ; Rosanna Bagnulo^a ; Patrizia Lastella^c ; Francesco Claudio Susca^a ; Cristina Bozzao^a ; Daria Carmela Loconte^a ; Carlo Sabbà ; ^c ; ^d ; Emanuele Urso^e ; Paola Sala^f ; Mara Fornasarig^g ; Paola Grammatico^h ; Ada Piepoliⁱ ; Cristina Host^j ; Daniela Turchetti^k ; Alessandra Viel^l ; Luigi Memo^m ; Laura Giuntiⁿ ; Vittoria Stigliano^o ; Liliana Varesco^p ; Lucio Bertario^f ; Maurizio Genuardi^q ; ^r ; Emanuela Lucci Cordisco^s ; Maria Grazia Tibiletti^t ; Carmela Di Gregorio^u ; Angelo Andriulliⁱ ; Maurizio Ponz de Leon^v ; AIFEG 1

关键词：Hamartomatous polyposis ; Peutz&ndash ; Jeghers syndrome ; Surveillance protocol

刊名：Digestive and Liver Disease

出版年：2013

6.Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review

作者：Marco Castori ; Michele Valiante ; Giulia Pascolini ; Vincenzo Leuzzi ; Antonio Pizzuti ; Paola Grammatico

关键词：Gingival overgrowth ; Hirsutism ; Hypertrichosis ; Inheritance ; Mental retardation ; Nail dysplasia

刊名：European Journal of Medical Genetics

出版年：2013

7.Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction?

作者：Silvia Majore^a ; ^{smajore@scamilloforlanini.rm.it} ; Bianca Maria Ricerca^b ; Francesca Clementina Radio^a ; Francesco Binni^a ; ^c ; Ilaria Cosentino^a ; Giulia Gallusi^a ; Carmelilia De Bernardo^a ; Aldo Morrone^d ; Paola Grammatico^a

刊名：Blood Cells, Molecules, and Diseases

出版年：2013

8.Comedonal Darier disease: Report of 2 cases

作者：Viviana Lora ; Carlo Cota ; Paola Grammatico ; Lucia Pedace ; Helmut Kerl ; Lorenzo Cerroni

刊名：Journal of the American Academy of Dermatology

出版年：December, 2013

9.In vitro reconstruction of epidermis from primary Darier's disease keratinocytes replicates the histopathological phenotype

作者：Catherine Lambert de Rouvroit ; C¨¦line Charlier ; Damien Lederer ; Val¨¦rie De Glas ; Evelyne De Vuyst ; Jean-Louis Dargent ; Paola Grammatico ; Francesco Binni ; Catherine Rousseau ; Jean-Luc Hennecker ; Arjen F. Nikkels ; Yves Poumay

刊名：Journal of Dermatological Science

出版年：2013

10.Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer

作者：Lorenza Putignani^a ; ^{lorenza.putignani@opbg.net} ; Salvatore Raffa^b ; Roberta Pescosolido^c ; Teresa Rizza^d ; Federica Del Chierico^a ; Laura Leone^b ; Laura Aimati^b ; Fabrizio Signore^e ; Rosalba Carrozzo^d ; Francesco Callea^f ; Maria Rosaria Torrisi^b ; Paola Grammatico^c ; ¹ ; ^{paola.grammatico@uniroma1.it}

关键词：CIEM ; cryo-immunoelectron microscopy ; COX ; cytochrome c oxidase complex IV ; COXI ; cytochrome c oxidase complex IV subunit I ; COXIV ; cytochrome c oxidase complex IV subunit IV ; EM ; electron microscopy ; F1¦Â ATP ; synthase complex V F1¦Â subunit ; HMC-1 ; huma

刊名：Mitochondrion

出版年：2012

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