Literature DB >> 24798638

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

Gabor Matyas1, Paulina Naef, Martin Tollens, Konrad Oexle.   

Abstract

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Year:  2014        PMID： 24798638     DOI： 10.1002/ajmg.a.36593

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

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Authors:  Chien-Jung Lin; Chieh-Yu Lin; Nathan O Stitziel
Journal:  Matrix Biol       Date:  2018-04-12       Impact factor: 11.583

Review 2.  Genetic and Developmental Basis of Cardiovascular Malformations.

Authors:  Mohamad Azhar; Stephanie M Ware
Journal:  Clin Perinatol       Date:  2016-03       Impact factor: 3.430

3.  Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Authors:  Joyce Burger; Natalija Bogunovic; Nathalie P de Wagenaar; Hui Liu; Nicole van Vliet; Arne IJpma; Alessandra Maugeri; Dimitra Micha; Hence J M Verhagen; Timo L M Ten Hagen; Danielle Majoor-Krakauer; Ingrid van der Pluijm; Jeroen Essers; Kak K Yeung
Journal:  Hum Mol Genet       Date:  2021-11-16       Impact factor: 6.150

4.  Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Authors:  Aida M Bertoli-Avella; Elisabeth Gillis; Hiroko Morisaki; Judith M A Verhagen; Bianca M de Graaf; Gerarda van de Beek; Elena Gallo; Boudewijn P T Kruithof; Hanka Venselaar; Loretha A Myers; Steven Laga; Alexander J Doyle; Gretchen Oswald; Gert W A van Cappellen; Itaru Yamanaka; Robert M van der Helm; Berna Beverloo; Annelies de Klein; Luba Pardo; Martin Lammens; Christina Evers; Koenraad Devriendt; Michiel Dumoulein; Janneke Timmermans; Hennie T Bruggenwirth; Frans Verheijen; Inez Rodrigus; Gareth Baynam; Marlies Kempers; Johan Saenen; Emeline M Van Craenenbroeck; Kenji Minatoya; Ritsu Matsukawa; Takuro Tsukube; Noriaki Kubo; Robert Hofstra; Marie Jose Goumans; Jos A Bekkers; Jolien W Roos-Hesselink; Ingrid M B H van de Laar; Harry C Dietz; Lut Van Laer; Takayuki Morisaki; Marja W Wessels; Bart L Loeys
Journal:  J Am Coll Cardiol       Date:  2015-04-07       Impact factor: 24.094

Review 5.  A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.

Authors:  Betti Giusti; Stefano Nistri; Elena Sticchi; Rosina De Cario; Rosanna Abbate; Gian Franco Gensini; Guglielmina Pepe
Journal:  Biomed Res Int       Date:  2016-05-25       Impact factor: 3.411

Review 6.  Fibrillins in Tendon.

Authors:  Betti Giusti; Guglielmina Pepe
Journal:  Front Aging Neurosci       Date:  2016-10-20       Impact factor: 5.750

7.  Reflections on my daughter's DNA.

Authors:  Hugh Young Rienhoff
Journal:  Appl Transl Genom       Date:  2016-02-01

8.  A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Authors:  Dorien Schepers; Giada Tortora; Hiroko Morisaki; Gretchen MacCarrick; Mark Lindsay; David Liang; Sarju G Mehta; Jennifer Hague; Judith Verhagen; Ingrid van de Laar; Marja Wessels; Yvonne Detisch; Mieke van Haelst; Annette Baas; Klaske Lichtenbelt; Kees Braun; Denise van der Linde; Jolien Roos-Hesselink; George McGillivray; Josephina Meester; Isabelle Maystadt; Paul Coucke; Elie El-Khoury; Sandhya Parkash; Birgitte Diness; Lotte Risom; Ingrid Scurr; Yvonne Hilhorst-Hofstee; Takayuki Morisaki; Julie Richer; Julie Désir; Marlies Kempers; Andrea L Rideout; Gabrielle Horne; Chris Bennett; Elisa Rahikkala; Geert Vandeweyer; Maaike Alaerts; Aline Verstraeten; Hal Dietz; Lut Van Laer; Bart Loeys
Journal:  Hum Mutat       Date:  2018-03-06       Impact factor: 4.878

9.  Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Authors:  Eline Overwater; Luisa Marsili; Marieke J H Baars; Annette F Baas; Irma van de Beek; Eelco Dulfer; Johanna M van Hagen; Yvonne Hilhorst-Hofstee; Marlies Kempers; Ingrid P Krapels; Leonie A Menke; Judith M A Verhagen; Kak K Yeung; Petra J G Zwijnenburg; Maarten Groenink; Peter van Rijn; Marjan M Weiss; Els Voorhoeve; J Peter van Tintelen; Arjan C Houweling; Alessandra Maugeri
Journal:  Hum Mutat       Date:  2018-07-12       Impact factor: 4.878

10.  Tgfbr2 is required in Acan-expressing cells for maintenance of the intervertebral and sternocostal joints.

Authors:  Bashar Alkhatib; Cunren Liu; Rosa Serra
Journal:  JOR Spine       Date:  2018-06-22
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