342 related articles for article (PubMed ID: 28344185)
1. Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela I; Fernández-Alvarez P; Munell F; Sanchez-Montanez A; Giralt G; Vendrell T; Tizzano EF
Eur J Med Genet; 2017 Jun; 60(6):303-307. PubMed ID: 28344185
[TBL] [Abstract][Full Text] [Related]
2. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
Kiliç E; Alanay Y; Utine E; Ozgen-Mocan B; Robinson PN; Boduroğlu K
Turk J Pediatr; 2012; 54(2):198-202. PubMed ID: 22734312
[TBL] [Abstract][Full Text] [Related]
3. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.
Chung BH; Bradley T; Grosse-Wortmann L; Blaser S; Dirks P; Hinek A; Chitayat D
Am J Med Genet A; 2014 Feb; 164A(2):461-6. PubMed ID: 24194458
[TBL] [Abstract][Full Text] [Related]
4. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Drera B; Ritelli M; Zoppi N; Wischmeijer A; Gnoli M; Fattori R; Calzavara-Pinton PG; Barlati S; Colombi M
Orphanet J Rare Dis; 2009 Nov; 4():24. PubMed ID: 19883511
[TBL] [Abstract][Full Text] [Related]
5. A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
Tug E; Loeys B; De Paepe A; Aydin H; Gideroglu K
Genet Couns; 2010; 21(2):225-32. PubMed ID: 20681224
[TBL] [Abstract][Full Text] [Related]
6. A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
Jamsheer A; Henggeler C; Wierzba J; Loeys B; De Paepe A; Stheneur Ch; Badziag N; Matuszewska K; Matyas G; Latos-Bielenska A
J Appl Genet; 2009; 50(4):405-10. PubMed ID: 19875893
[TBL] [Abstract][Full Text] [Related]
7. Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders.
Felgentreff K; Siepe M; Kotthoff S; von Kodolitsch Y; Schachtrup K; Notarangelo LD; Walter JE; Ehl S
Clin Immunol; 2014 Jan; 150(1):43-50. PubMed ID: 24333532
[TBL] [Abstract][Full Text] [Related]
8. Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.
Ma BO; Song BG; Yang HJ; Jeon GJ; Lee JU; Kim TH; Kang GH; Park YH; Chun WJ; Oh JH
Heart Lung Circ; 2012 Apr; 21(4):215-7. PubMed ID: 22325833
[TBL] [Abstract][Full Text] [Related]
9. Functional validation reveals the novel missense V419L variant in
Cousin MA; Zimmermann MT; Mathison AJ; Blackburn PR; Boczek NJ; Oliver GR; Lomberk GA; Urrutia RA; Deyle DR; Klee EW
Cold Spring Harb Mol Case Stud; 2017 Jul; 3(4):. PubMed ID: 28679693
[TBL] [Abstract][Full Text] [Related]
10. Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F; Morra L; Feresin A; Faletra F; Al Naber Y; Memo L; Travan L
Ital J Pediatr; 2022 Jun; 48(1):85. PubMed ID: 35668506
[TBL] [Abstract][Full Text] [Related]
11. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
Riise N; Lindberg BR; Kulseth MA; Fredwall SO; Lundby R; Estensen ME; Drolsum L; Merckoll E; Krohg-Sørensen K; Paus B
BMC Med Genet; 2018 Aug; 19(1):155. PubMed ID: 30170566
[TBL] [Abstract][Full Text] [Related]
12. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
Muramatsu Y; Kosho T; Magota M; Yokotsuka T; Ito M; Yasuda A; Kito O; Suzuki C; Nagata Y; Kawai S; Ikoma M; Hatano T; Nakayama M; Kawamura R; Wakui K; Morisaki H; Morisaki T; Fukushima Y
Am J Med Genet A; 2010 Feb; 152A(2):417-21. PubMed ID: 20101701
[TBL] [Abstract][Full Text] [Related]
13. Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.
Uike K; Matsushita Y; Sakai Y; Togao O; Nagao M; Ishizaki Y; Nagata H; Yamamura K; Torisu H; Hara T
BMC Res Notes; 2013 Nov; 6():456. PubMed ID: 24220024
[TBL] [Abstract][Full Text] [Related]
14. Multiple facial milia in patients with Loeys-Dietz syndrome.
Lloyd BM; Braverman AC; Anadkat MJ
Arch Dermatol; 2011 Feb; 147(2):223-6. PubMed ID: 20956634
[TBL] [Abstract][Full Text] [Related]
15. Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.
Sheikhzadeh S; Brockstaedt L; Habermann CR; Sondermann C; Bannas P; Mir TS; Staebler A; Seidel H; Keyser B; Arslan-Kirchner M; Kutsche K; Berger J; Blankenberg S; von Kodolitsch Y
Clin Genet; 2014 Dec; 86(6):545-51. PubMed ID: 24344637
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.
Fujita D; Takeda N; Morita H; Kato M; Nishimura H; Inuzuka R; Taniguchi Y; Nawata K; Hyodo H; Imai Y; Hirata Y; Komuro I
Int J Cardiol; 2015 Dec; 201():288-90. PubMed ID: 26301661
[No Abstract] [Full Text] [Related]
17. [Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].
De Potter MJ; Edouard T; Amadieu R; Plaisancié J; Julia S; Hadeed K; Hascoët S; Acar P; Dulac Y
Arch Pediatr; 2016 May; 23(5):504-7. PubMed ID: 27017362
[TBL] [Abstract][Full Text] [Related]
18. Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
Ting TW; Lai AH; Choo JT; Tan TH
Eur J Pediatr; 2014 Mar; 173(3):387-91. PubMed ID: 24146167
[TBL] [Abstract][Full Text] [Related]
19. Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
Wellbrock J; Sheikhzadeh S; Oliveira-Ferrer L; Stamm H; Hillebrand M; Keyser B; Klokow M; Vohwinkel G; Bonk V; Otto B; Streichert T; Balabanov S; Hagel C; Rybczynski M; Bentzien F; Bokemeyer C; von Kodolitsch Y; Fiedler W
PLoS One; 2014; 9(8):e104742. PubMed ID: 25116393
[TBL] [Abstract][Full Text] [Related]
20. Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?
Woolnough R; Dhawan A; Dow K; Walia JS
Pediatrics; 2017 Mar; 139(3):. PubMed ID: 28209770
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]