Literature DB >> 23212998

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

Maria Iascone1, Maria Elena Sana, Laura Pezzoli, Paolo Bianchi, Daniela Marchetti, Giorgio Fasolini, Youcef Sadou, Anna Locatelli, Flavia Fabiani, Giovanna Mangili, Paolo Ferrazzi.   

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Year:  2012        PMID： 23212998     DOI： 10.1161/CIRCULATIONAHA.112.119883

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


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  10 in total

1.  Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.

Authors:  Dessislava Z Markova; Te-Cheng Pan; Rui-Zhu Zhang; Guiyun Zhang; Takako Sasaki; Machiko Arita; David E Birk; Mon-Li Chu
Journal:  Cell Tissue Res       Date:  2015-12-28       Impact factor: 5.249

2.  Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.

Authors:  Olga Igoucheva; Vitali Alexeev; Carmen M Halabi; Sheila M Adams; Ivan Stoilov; Takako Sasaki; Machiko Arita; Adele Donahue; Robert P Mecham; David E Birk; Mon-Li Chu
Journal:  J Biol Chem       Date:  2015-07-15       Impact factor: 5.157

Review 3.  Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.

Authors:  Christina L Papke; Hiromi Yanagisawa
Journal:  Matrix Biol       Date:  2014-03-06       Impact factor: 11.583

4.  Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.

Authors:  Pascaline Letard; Dorien Schepers; Juliette Albuisson; Patrick Bruneval; Emmanuel Spaggiari; Gerarda Van de Beek; Suonavy Khung-Savatovsky; Nadia Belarbi; Yline Capri; Anne-Lise Delezoide; Bart Loeys; Fabien Guimiot
Journal:  Mol Syndromol       Date:  2018-06-08

5.  A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

Authors:  Maria Elena Sana; Lawrence A Quilliam; Andrea Spitaleri; Laura Pezzoli; Daniela Marchetti; Chiara Lodrini; Elisabetta Candiago; Anna Rita Lincesso; Paolo Ferrazzi; Maria Iascone
Journal:  PLoS One       Date:  2016-12-21       Impact factor: 3.240

6.  Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.

Authors:  Carmen M Halabi; Thomas J Broekelmann; Michelle Lin; Vivian S Lee; Mon-Li Chu; Robert P Mecham
Journal:  Sci Adv       Date:  2017-05-03       Impact factor: 14.136

Review 7.  Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.

Authors:  Claudia Santoro; Giuseppe Mirone; Mariateresa Zanobio; Giusy Ranucci; Alessandra D'Amico; Domenico Cicala; Maria Iascone; Pia Bernardo; Vincenzo Piccolo; Andrea Ronchi; Giuseppe Limongelli; Marco Carotenuto; Vincenzo Nigro; Giuseppe Cinalli; Giulio Piluso
Journal:  Int J Mol Sci       Date:  2022-08-11       Impact factor: 6.208

8.  Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Authors:  Lidia Pezzani; Laura Pezzoli; Alessandra Pansa; Barbara Facchinetti; Daniela Marchetti; Agnese Scatigno; Anna R Lincesso; Loredana Perego; Monica Pingue; Isabella Pellicioli; Lucia Migliazza; Giovanna Mangili; Lorenzo Galletti; Ursula Giussani; Ezio Bonanomi; Anna Cereda; Maria Iascone
Journal:  Mol Genet Genomic Med       Date:  2020-01-14       Impact factor: 2.183

9.  Raman microspectroscopy and Raman imaging reveal biomarkers specific for thoracic aortic aneurysms.

Authors:  Kaori Sugiyama; Julia Marzi; Julia Alber; Eva M Brauchle; Masahiro Ando; Yoshito Yamashiro; Bhama Ramkhelawon; Katja Schenke-Layland; Hiromi Yanagisawa
Journal:  Cell Rep Med       Date:  2021-04-28

10.  Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Authors:  Laura Pezzoli; Lidia Pezzani; Ezio Bonanomi; Chiara Marrone; Agnese Scatigno; Anna Cereda; Maria Francesca Bedeschi; Angelo Selicorni; Serena Gasperini; Paolo Bini; Silvia Maitz; Carla Maccioni; Cristina Pedron; Lorenzo Colombo; Daniela Marchetti; Matteo Bellini; Anna Rita Lincesso; Loredana Perego; Monica Pingue; Nunzia Della Malva; Giovanna Mangili; Paolo Ferrazzi; Maria Iascone
Journal:  J Cardiovasc Dev Dis       Date:  2021-12-21
  10 in total

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