244 related articles for article (PubMed ID: 24220024)
1. 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]
2. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.
Akazawa Y; Inaba Y; Hachiya A; Motoki N; Matsuzaki S; Minatoya K; Morisaki T; Morisaki H; Kosaki K; Kosho T; Koike K
Am J Med Genet A; 2015 Oct; 167A(10):2435-9. PubMed ID: 26096872
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL; Schwarze U; Holm T; Callewaert BL; Thomas GH; Pannu H; De Backer JF; Oswald GL; Symoens S; Manouvrier S; Roberts AE; Faravelli F; Greco MA; Pyeritz RE; Milewicz DM; Coucke PJ; Cameron DE; Braverman AC; Byers PH; De Paepe AM; Dietz HC
N Engl J Med; 2006 Aug; 355(8):788-98. PubMed ID: 16928994
[TBL] [Abstract][Full Text] [Related]
6. Proximal paraparesis due to aortic dissection extending into bilateral carotid arteries in a patient with Loeys-Dietz syndrome.
Goshgarian C; Lugo A; Salazar R
J Clin Neurosci; 2013 Dec; 20(12):1790-2. PubMed ID: 23591182
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
Zhang L; Gao LG; Zhang M; Zhou XL
Mol Vis; 2012; 18():55-63. PubMed ID: 22259224
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure.
Takenouchi T; Saito H; Maruoka R; Oishi N; Torii C; Maeda J; Takahashi T; Kosaki K
Am J Med Genet A; 2013 Jul; 161A(7):1733-6. PubMed ID: 23686861
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.
Breckpot J; Budts W; De Zegher F; Vermeesch JR; Devriendt K
Eur J Med Genet; 2010; 53(6):408-10. PubMed ID: 20813212
[TBL] [Abstract][Full Text] [Related]
15. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
Arslan-Kirchner M; Epplen JT; Faivre L; Jondeau G; Schmidtke J; De Paepe A; Loeys B
Eur J Hum Genet; 2011 Oct; 19(10):. PubMed ID: 21522183
[No Abstract] [Full Text] [Related]
16. Loeys-Dietz syndrome.
Van Laer L; Dietz H; Loeys B
Adv Exp Med Biol; 2014; 802():95-105. PubMed ID: 24443023
[TBL] [Abstract][Full Text] [Related]
17. A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
Togashi Y; Sakoda H; Nishimura A; Matsumoto N; Hiraoka H; Matsuzawa Y
Intern Med; 2007; 46(24):1995-2000. PubMed ID: 18084123
[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. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler A; Altmüller J; Nürnberg P; Kotthoff S; Kubisch C; Borck G
Mol Cell Probes; 2015 Oct; 29(5):330-4. PubMed ID: 26184463
[TBL] [Abstract][Full Text] [Related]
20. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
Gallo EM; Loch DC; Habashi JP; Calderon JF; Chen Y; Bedja D; van Erp C; Gerber EE; Parker SJ; Sauls K; Judge DP; Cooke SK; Lindsay ME; Rouf R; Myers L; ap Rhys CM; Kent KC; Norris RA; Huso DL; Dietz HC
J Clin Invest; 2014 Jan; 124(1):448-60. PubMed ID: 24355923
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]