260 related articles for article (PubMed ID: 20956634)
1. 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]
2. 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]
3. 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]
4. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C; Collod-Béroud G; Faivre L; Gouya L; Sultan G; Le Parc JM; Moura B; Attias D; Muti C; Sznajder M; Claustres M; Junien C; Baumann C; Cormier-Daire V; Rio M; Lyonnet S; Plauchu H; Lacombe D; Chevallier B; Jondeau G; Boileau C
Hum Mutat; 2008 Nov; 29(11):E284-95. PubMed ID: 18781618
[TBL] [Abstract][Full Text] [Related]
5. Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.
Adès LC
Clin Dysmorphol; 2008 Oct; 17(4):243-8. PubMed ID: 18978651
[TBL] [Abstract][Full Text] [Related]
6. Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
Ben Amor IM; Edouard T; Glorieux FH; Chabot G; Tischkowitz M; Roschger P; Klaushofer K; Rauch F
J Bone Miner Res; 2012 Mar; 27(3):713-8. PubMed ID: 22095581
[TBL] [Abstract][Full Text] [Related]
7. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK; Rommel K; Mishra A; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2006 Aug; 27(8):770-7. PubMed ID: 16799921
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
Cardoso S; Robertson SP; Daniel PB
J Recept Signal Transduct Res; 2012 Jun; 32(3):150-5. PubMed ID: 22414221
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation.
Edelman JJ; Ramponi F; Bannon PG; Jeremy R
Interact Cardiovasc Thorac Surg; 2011 May; 12(5):863-5. PubMed ID: 21324918
[TBL] [Abstract][Full Text] [Related]
14. Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
Maleszewski JJ; Miller DV; Lu J; Dietz HC; Halushka MK
Am J Surg Pathol; 2009 Feb; 33(2):194-201. PubMed ID: 18852674
[TBL] [Abstract][Full Text] [Related]
15. Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
Horbelt D; Guo G; Robinson PN; Knaus P
J Cell Sci; 2010 Dec; 123(Pt 24):4340-50. PubMed ID: 21098638
[TBL] [Abstract][Full Text] [Related]
16. Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation.
Gutman G; Baris HN; Hirsch R; Mandel D; Yaron Y; Lessing JB; Kuperminc MJ
Fetal Diagn Ther; 2009; 26(1):35-7. PubMed ID: 19816028
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY; Hamroun D; Faivre L; Boileau C; Jondeau G; Claustres M; Béroud C; Collod-Béroud G
Hum Mutat; 2008 Jan; 29(1):33-8. PubMed ID: 17935258
[TBL] [Abstract][Full Text] [Related]
19. Imaging findings in a child with Loeys-Dietz syndrome.
Dhouib A; Beghetti M; Didier D
Circulation; 2012 Jul; 126(4):507-8. PubMed ID: 22825413
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]