Author/Creator: Manara, Elena - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Manara, Elena

1. A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. (30th August 2018)

Authors:: Marino, Valerio; Dal Cortivo, Giuditta; Oppici, Elisa; Maltese, Paolo Enrico; D'Esposito, Fabiana; Manara, Elena; Ziccardi, Lucia; Falsini, Benedetto; Magli, Adriano; Bertelli, Matteo; Dell'Orco, Daniele
Journal:: Human molecular genetics
Issue:: Volume 27:Number 24(2018:Dec. 15)
Page Start:: 4204
Record Type:: Journal Article
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2. Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family. Issue 9 (13th October 2022)

Authors:: Ergoren, Mahmut Cerkez; Akcan, Nese; Manara, Elena; Paolacci, Stefano; Fahrioğlu, Umut; Betmezoglu, Meryem; Bundak, Ruveyde; Mocan, Gamze; Temel, Sehime Gulsun; Bertelli, Matteo
Journal:: Applied immunohistochemistry & molecular morphology
Issue:: Volume 30:Issue 9(2022)
Page Start:: 635
Record Type:: Journal Article
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3. Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment. Issue 7 (5th May 2020)

Authors:: Paolacci, Stefano; Kiani, Aysha Karim; Manara, Elena; Beccari, Tommaso; Ceccarini, Maria Rachele; Stuppia, Liborio; Chiurazzi, Pietro; Dalla Ragione, Laura; Bertelli, Matteo
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 8:Issue 7(2020)
Page Start:: n/a
Record Type:: Journal Article
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4. Genetic tests in lymphatic vascular malformations and lymphedema. Issue 4 (9th February 2018)

Authors:: Michelini, Sandro; Paolacci, Stefano; Manara, Elena; Eretta, Costantino; Mattassi, Raul; Lee, Byung-Boong; Bertelli, Matteo
Journal:: Journal of medical genetics
Issue:: Volume 55:Issue 4(2018)
Page Start:: 222
Record Type:: Journal Article
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5. Investigation on the role of biallelic variants in VEGF‐C found in a patient affected by Milroy‐like lymphedema. Issue 9 (26th June 2020)

Authors:: Mukenge, Sylvain; Jha, Sawan K.; Catena, Marco; Manara, Elena; Leppänen, Veli‐Matti; Lenti, Elisa; Negrini, Daniela; Bertelli, Matteo; Brendolan, Andrea; Jeltsch, Michael; Aldrighetti, Luca
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 8:Issue 9(2020)
Page Start:: n/a
Record Type:: Journal Article
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6. Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters. Issue 4 (16th March 2021)

Authors:: Gatticchi, Leonardo; Vešelényiová, Dominika; Miertus, Jan; Enrico Maltese, Paolo; Manara, Elena; Costantini, Alisia; Benedetti, Sabrina; Ďurovčíková, Darina; Krajcovic, Juraj; Bertelli, Matteo
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 9:Issue 4(2021)
Page Start:: n/a
Record Type:: Journal Article
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7. Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1‐USP42 and PRDM16‐SKI fusion transcripts. (27th March 2014)

Authors:: Masetti, Riccardo; Togni, Marco; Astolfi, Annalisa; Pigazzi, Martina; Indio, Valentina; Rivalta, Beatrice; Manara, Elena; Rutella, Sergio; Basso, Giuseppe; Pession, Andrea; Locatelli, Franco
Journal:: British journal of haematology
Issue:: Volume 166:Number 3(2014:Aug.)
Page Start:: 449
Record Type:: Journal Article
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