Search the collection

60 results for Scaglia,+Fernando

Sort by:

Sort by

Limit results to:

20 per page

60 results for Scaglia,+Fernando

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
Reference EntriesFull Text
Scaglia, Fernando
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: SAR-SOK, 2022, p.10016-10016
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
Reference EntriesFull Text
Scaglia, Fernando
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: SAV-SOP, 2021, p.9986-9986
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Author / Creator:Parikh, Sumit ; Goldstein, Amy ; Koenig, Mary Kay ; Scaglia, Fernando ; Enns, Gregory M. ; Saneto, Russell ; Anselm, Irina ; Cohen, Bruce H. ; Falk, Marni J. ; Greene, Carol ; Gropman, Andrea L. ; Haas, Richard ; Hirano, Michio ; Morgan, Phil ; Sims, Katherine ; Tarnopolsky, Mark ; Van Hove, Johan L.K. ; Wolfe, Lynne ; DiMauro, Salvatore
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-09, Vol.17 (9), p.689-701
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Author / Creator:Parikh, Sumit ; Goldstein, Amy ; Karaa, Amel ; Koenig, Mary Kay ; Anselm, Irina ; Brunel-Guitton, Catherine ; Christodoulou, John ; Cohen, Bruce H ; Dimmock, David ; Enns, Gregory M ; Falk, Marni J ; Feigenbaum, Annette ; Frye, Richard E ; Ganesh, Jaya ; Griesemer, David ; Haas, Richard ; Horvath, Rita ; Korson, Mark ; Kruer, Michael C ; Mancuso, Michelangelo ; McCormack, Shana ; Raboisson, Marie Josee ; Reimschisel, Tyler ; Salvarinova, Ramona ; Saneto, Russell P ; Scaglia, Fernando ; Shoffner, John ; Stacpoole, Peter W ; Sue, Carolyn M ; Tarnopolsky, Mark ; Van Karnebeek, Clara ; Wolfe, Lynne A ; Cunningham, Zarazuela Zolkipli ; Rahman, Shamima ; Chinnery, Patrick F
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1380
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
A mitogenomic timetree for Darwin’s enigmatic South American mammal Macrauchenia patachonica
Author / Creator:Westbury, Michael ; Baleka, Sina ; Barlow, Axel ; Hartmann, Stefanie ; Paijmans, Johanna L.A. ; Kramarz, Alejandro ; Forasiepi, Analía M ; Bond, Mariano ; Gelfo, Javier N. ; Reguero, Marcelo A. ; López-Mendoza, Patricio ; Taglioretti, Matias ; Scaglia, Fernando ; Rinderknecht, Andrés ; Jones, Washington ; Mena, Francisco ; Billet, Guillaume ; de Muizon, Christian ; Aguilar, José Luis ; MacPhee, Ross D.E. ; Hofreiter, Michael
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-06, Vol.8 (1), p.15951-15951, Article 15951
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
A new buzzard (Aves, Accipitridae) from the late Pliocene of Argentina
Author / Creator:Degrange, Federico ; Tambussi, Claudia ; Taglioretti, Matias ; Scaglia, Fernando
Publisher:Polska Akademia Nauk, Instytut Paleobiologii
Journal title:Acta palaeontologica Polonica, 2021-01, Vol.66 (4), p.779-787
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
Author / Creator:Walimbe, Ameya S. ; Machol, Keren ; Kralik, Stephen F. ; Mizerik, Elizabeth A. ; Gofin, Yoel ; Bekheirnia, Mir Reza ; Gijavanekar, Charul ; Elsea, Sarah H. ; Emrick, Lisa T. ; Scaglia, Fernando
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2024-03, Vol.24 (1), p.87-87, Article 87
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Author / Creator:Karaa, Amel ; Bertini, Enrico ; Carelli, Valerio ; Cohen, Bruce ; Ennes, Gregory M. ; Falk, Marni J. ; Goldstein, Amy ; Gorman, Gráinne ; Haas, Richard ; Hirano, Michio ; Klopstock, Thomas ; Koenig, Mary Kay ; Kornblum, Cornelia ; Lamperti, Costanza ; Lehman, Anna ; Longo, Nicola ; Molnar, Maria Judit ; Parikh, Sumit ; Phan, Han ; Pitceathly, Robert D. S. ; Saneto, Russekk ; Scaglia, Fernando ; Servidei, Serenella ; Tarnopolsky, Mark ; Toscano, Antonio ; Van Hove, Johan L. K. ; Vissing, John ; Vockley, Jerry ; Finman, Jeffrey S. ; Abbruscato, Anthony ; Brown, David A. ; Sullivan, Alana ; Shiffer, James A. ; Mancuso, Michelango
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.431-12, Article 431
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Palaeoproteomics resolves sloth relationships
Author / Creator:Presslee, Samantha ; Slater, Graham J. ; Pujos, François ; Forasiepi, Analía M. ; Fischer, Roman ; Molloy, Kelly ; Mackie, Meaghan ; Olsen, Jesper V. ; Kramarz, Alejandro ; Taglioretti, Matías ; Scaglia, Fernando ; Lezcano, Maximiliano ; Lanata, José Luis ; Southon, John ; Feranec, Robert ; Bloch, Jonathan ; Hajduk, Adam ; Martin, Fabiana M. ; Salas Gismondi, Rodolfo ; Reguero, Marcelo ; de Muizon, Christian ; Greenwood, Alex ; Chait, Brian T. ; Penkman, Kirsty ; Collins, Matthew ; MacPhee, Ross D. E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature ecology & evolution, 2019-07, Vol.3 (7), p.1121-1130
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans
Author / Creator:Albino, Elinette ; Buxo, Carmen ; Scaglia, Fernando ; Santiago-Cornier, Alberto
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Journal of clinical and translational science, 2021-03, Vol.5 (s1), p.106-106
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Phenotypic manifestations of copy number variation in chromosome 16p13.11
Author / Creator:Nagamani, Sandesh C Sreenath ; Erez, Ayelet ; Bader, Patricia ; Lalani, Seema R ; Scott, Daryl A ; Scaglia, Fernando ; Plon, Sharon E ; Tsai, Chun-Hui ; Reimschisel, Tyler ; Roeder, Elizabeth ; Malphrus, Amy D ; Eng, Patricia A ; Hixson, Patricia M ; Kang, Sung-Hae L ; Stankiewicz, Pawel ; Patel, Ankita ; Cheung, Sau Wai
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.280-286
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
Author / Creator:del Gaudio, Daniela ; Fang, Ping ; Scaglia, Fernando ; Ward, Patricia A. ; Craigen, William J. ; Glaze, Daniel G. ; Neul, Jeffrey L. ; Patel, Ankita ; Lee, Jennifer A. ; Irons, Mira ; Berry, Susan A. ; Pursley, Amber A. ; Grebe, Theresa A ; Freedenberg, Debra ; Martin, Rick A. ; Hsich, Gary E. ; Khera, Jena R ; Friedman, Neil R. ; Zoghbi, Huda Y. ; Eng, Christine M. ; Lupski, James R.. ; Beaudet, Arthur L ; Cheung, Sau Wai ; Roa, Benjamin B.
Publisher:United States
Journal title:Genetics in medicine, 2006-12, Vol.8 (12), p.784-792
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
Author / Creator:Wong, Lee-Jun C ; Dimmock, David ; Geraghty, Michael T ; Quan, Richard ; Lichter-Konecki, Uta ; Wang, Jing ; Brundage, Ellen K ; Scaglia, Fernando ; Chinault, A. Craig
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2008-07, Vol.54 (7), p.1141-1148
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
Author / Creator:Campbell, Ian M. ; Yatsenko, Svetlana A. ; Hixson, Patricia ; Reimschisel, Tyler ; Thomas, Matthew ; Wilson, William ; Dayal, Usha ; Wheless, James W. ; Crunk, Amy ; Curry, Cynthia ; Parkinson, Nicole ; Fishman, Leona ; Riviello, James J. ; Nowaczyk, Malgorzata J.M. ; Zeesman, Susan ; Rosenfeld, Jill A. ; Bejjani, Bassem A. ; Shaffer, Lisa G. ; Cheung, Sau Wai ; Lupski, James R. ; Stankiewicz, Pawel ; Scaglia, Fernando
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2012-10, Vol.14 (10), p.868-876
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency
Author / Creator:Moretti, Paolo ; Peters, Sarika U. ; del Gaudio, Daniela ; Sahoo, Trilochan ; Hyland, Keith ; Bottiglieri, Teodoro ; Hopkin, Robert J. ; Peach, Elizabeth ; Min, Sang Hee ; Goldman, David ; Roa, Benjamin ; Bacino, Carlos A. ; Scaglia, Fernando
Publisher:Boston: Springer US
Journal title:Journal of autism and developmental disorders, 2008-07, Vol.38 (6), p.1170-1177
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
Author / Creator:El-Hattab, Ayman W ; Smolarek, Teresa A ; Walker, Martha E ; Schorry, Elizabeth K ; Immken, LaDonna L ; Patel, Gayle ; Abbott, Mary-Alice ; Lanpher, Brendan C ; Ou, Zhishuo ; Kang, Sung-Hae L ; Patel, Ankita ; Scaglia, Fernando ; Lupski, James R ; Cheung, Sau Wai ; Stankiewicz, Pawel
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Human genetics, 2009-10, Vol.126 (4), p.589-602
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure
Author / Creator:Sano, Motoaki ; Wang, Sam C ; Shirai, Manabu ; Scaglia, Fernando ; Xie, Min ; Sakai, Satoshi ; Tanaka, Toru ; Kulkarni, Prathit A ; Barger, Philip M ; Youker, Keith A ; Taffet, George E ; Hamamori, Yasuo ; Michael, Lloyd H ; Craigen, William J ; Schneider, Michael D
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The EMBO journal, 2004-09, Vol.23 (17), p.3559-3569
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Characterization of the renal phenotype in RMND1‐related mitochondrial disease
Author / Creator:Shayota, Brian J. ; Le, Nhon T. ; Bekheirnia, Nasim ; Rosenfeld, Jill A. ; Goldstein, Amy C. ; Moritz, Michael ; Bartholomew, Dennis W. ; Pastore, Matthew T. ; Xia, Fan ; Eng, Christine ; Yang, Yaping ; Lamb, Dolores J. ; Scaglia, Fernando ; Braun, Michael C. ; Bekheirnia, Mir Reza
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e973-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Author / Creator:Karaa, Amel ; MacMullen, Laura E. ; Campbell, John C. ; Christodoulou, John ; Cohen, Bruce H. ; Klopstock, Thomas ; Koga, Yasutoshi ; Lamperti, Costanza ; Maanen, Rob ; McFarland, Robert ; Parikh, Sumit ; Rahman, Shamima ; Scaglia, Fernando ; Sherman, Alexander V. ; Yeske, Philip ; Falk, Marni J.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Genetics & genomics next, 2022-03, Vol.3 (1), p.n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
Author / Creator:Leung, Alexander K. C. ; Fu, Yu Ming ; Chow, Chung Mo ; Scaglia, Fernando ; Hon, Kam-Lun Ellis ; Chong, Shuk Ching ; Chiu, Tor Wo
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Case reports in pediatrics, 2020-04, Vol.2020 (2020), p.1-5
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 60 results

Export record to excel

Export this record

Export record to excel

Scaglia, Fernando

Export this record

Export record to excel

Scaglia, Fernando

Export this record

Export record to excel

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Export this record

Export record to excel

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Export this record

Export record to excel

A mitogenomic timetree for Darwin’s enigmatic South American mammal Macrauchenia patachonica

Export this record

Export record to excel

A new buzzard (Aves, Accipitridae) from the late Pliocene of Argentina

Export this record

Export record to excel

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

Export this record

Export record to excel

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

Export this record

Export record to excel

Palaeoproteomics resolves sloth relationships

Export this record

Export record to excel

11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans

Export this record

Export record to excel

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Export this record

Export record to excel

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Export this record

Export record to excel

Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

Export this record

Export record to excel

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Export this record

Export record to excel

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

Export this record

Export record to excel

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Export this record

Export record to excel

Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure

Export this record

Export record to excel

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

Export this record

Export record to excel

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Export this record

Export record to excel

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

Refine your search