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Literature DB >> 25589165

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Alessio Pieroni¹, Marco Castori, Paolo Caso, Eugenio Di Bernardini, Manuela De Michele, Marco Ritelli, Marina Colombi, Danilo Toni.

Abstract

Entities: Disease Species

Mesh：

Year: 2015 PMID： 25589165 DOI： 10.1007/s11739-015-1187-7

Source DB: PubMed Journal: Intern Emerg Med ISSN： 1828-0447 Impact factor: 3.397

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15 in total

1. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Authors: Bart L Loeys; Junji Chen; Enid R Neptune; Daniel P Judge; Megan Podowski; Tammy Holm; Jennifer Meyers; Carmen C Leitch; Nicholas Katsanis; Neda Sharifi; F Lauren Xu; Loretha A Myers; Philip J Spevak; Duke E Cameron; Julie De Backer; Jan Hellemans; Yan Chen; Elaine C Davis; Catherine L Webb; Wolfram Kress; Paul Coucke; Daniel B Rifkin; Anne M De Paepe; Harry C Dietz
Journal: Nat Genet Date: 2005-01-30 Impact factor: 38.330

2. Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Authors: Sérgio B Sousa; Karen Lambot-Juhan; Marlène Rio; Geneviève Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valérie Cormier-Daire
Journal: Am J Med Genet A Date: 2011-04-11 Impact factor: 2.802

3. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.

Authors: Alessandro Pezzini; Bruno Drera; Elisabetta Del Zotto; Marco Ritelli; Monica Carletti; Gianpaolo Tomelleri; Paolo Bovi; Alessia Giossi; Irene Volonghi; Paolo Costa; Mauro Magoni; Alessandro Padovani; Sergio Barlati; Marina Colombi
Journal: J Neurol Neurosurg Psychiatry Date: 2011-01-26 Impact factor: 10.154

Review 4. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Authors: Takeshi Mizuguchi; Naomichi Matsumoto
Journal: J Hum Genet Date: 2006-10-24 Impact factor: 3.172

5. Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Authors: Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz
Journal: N Engl J Med Date: 2006-08-24 Impact factor: 91.245

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

1. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

2. Expanding the skeletal phenotype of Loeys-Dietz syndrome.

3. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.

Review 4. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

5. Aneurysm syndromes caused by mutations in the TGF-beta receptor.

6. Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.

Review 7. Transforming growth factor beta in cardiovascular development and function.

8. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.

Review 9. Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.

Review 10. Loeys-Dietz syndrome: a primer for diagnosis and management.