168 related articles for article (PubMed ID: 37994137)
1. [Clinical and genetic analysis of a patient with Loeys-Dietz syndrome due to variant of TGFBR2 gene].
Wang Y; Kong Z; Wan L; Wang A; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1531-1535. PubMed ID: 37994137
[TBL] [Abstract][Full Text] [Related]
2. [Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome].
Wang Y; Niu B; Li R; Xie J; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1220-1223. PubMed ID: 34839511
[TBL] [Abstract][Full Text] [Related]
3. [Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome].
Fan J; Sun H; Wang X; Wu Y; Zhang S; Hao X; Han J; Gu X; Zhang Y; Sun L; He Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1093-1099. PubMed ID: 37643954
[TBL] [Abstract][Full Text] [Related]
4. [Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].
Li Z; Wang Y; Li X; Feng B; Gu S; Yang F; Chang G; Wang J; Wang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):998-1003. PubMed ID: 37532501
[TBL] [Abstract][Full Text] [Related]
5. Familial exudative vitreoretinopathy with
Asano T; Oku K; Kondo H
Ophthalmic Genet; 2021 Oct; 42(5):637-640. PubMed ID: 34102952
[No Abstract] [Full Text] [Related]
6. Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome.
Seike Y; Matsuda H; Ishibashi-Ueda H; Morisaki H; Morisaki T; Minatoya K; Ogino H
Ann Thorac Cardiovasc Surg; 2021 Feb; 27(1):56-63. PubMed ID: 33408307
[TBL] [Abstract][Full Text] [Related]
7. [Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene].
Ren Y; Zhang Y; Zhang X; Wang Y; Liu X; Sheng J; Ning S; Liu W; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1551-1555. PubMed ID: 37994141
[TBL] [Abstract][Full Text] [Related]
8. Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H; Ma Y; Luo M; Zhu G; Zhang Y; Li B; Shu C; Zhou Z
Orphanet J Rare Dis; 2020 Jan; 15(1):6. PubMed ID: 31915033
[TBL] [Abstract][Full Text] [Related]
9. 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]
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. Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.
Cao Y; Tan H; Li Z; Linpeng S; Long X; Liang D; Wu L
Int Heart J; 2018 Sep; 59(5):1059-1068. PubMed ID: 30101859
[TBL] [Abstract][Full Text] [Related]
12. Identification of a Pathogenic
Luo X; Deng S; Jiang Y; Wang X; Al-Raimi AMA; Wu L; Liu X; Song Y; Chen X; Zhu F
Front Genet; 2020; 11():479. PubMed ID: 32528524
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
[TBL] [Abstract][Full Text] [Related]
14. Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L; Ritelli M; Wischmeijer A; Majore S; Cinquina V; Fortugno P; Monetta R; Gigante L; Marfan Syndrome Study Group Tor Vergata University Hospital ; Sangiuolo FC; Novelli G; Colombi M; Brancati F
Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31569402
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene].
Qiu S; Li X; Hua Y; Sun S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):571-576. PubMed ID: 38684303
[TBL] [Abstract][Full Text] [Related]
17. Long-term risk of arch complications in Loeys Dietz syndrome patients undergoing proximal ascending aortic replacement.
Weininger G; Zafar M; Ziganshin BA; Mori M; Papanikolaou D; Sekar RB; Amabile A; Degife E; O'Marr J; Geirsson A; Elefteriades JA; Assi R; Vallabhajosyula P
J Card Surg; 2022 Nov; 37(11):3688-3692. PubMed ID: 35989525
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].
Liu X; Yang M; Xie H; Zhao Q; Xu B; Xiao X; Tan Y; Liu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):781-786. PubMed ID: 37368377
[TBL] [Abstract][Full Text] [Related]
20. [Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia].
Yuan H; Wang Y; Wang Q; Luo S; Liu C; Yuan H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug; 38(8):749-752. PubMed ID: 34365616
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
