176 related articles for article (PubMed ID: 38458756)
1. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Arnaud P; Mougin Z; Baujat G; Drouin-Garraud V; El Chehadeh S; Gouya L; Odent S; Jondeau G; Boileau C; Hanna N; Le Goff C
J Med Genet; 2024 Apr; 61(5):469-476. PubMed ID: 38458756
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C; Mahaut C; Wang LW; Allali S; Abhyankar A; Jensen S; Zylberberg L; Collod-Beroud G; Bonnet D; Alanay Y; Brady AF; Cordier MP; Devriendt K; Genevieve D; Kiper PÖ; Kitoh H; Krakow D; Lynch SA; Le Merrer M; Mégarbane A; Mortier G; Odent S; Polak M; Rohrbach M; Sillence D; Stolte-Dijkstra I; Superti-Furga A; Rimoin DL; Topouchian V; Unger S; Zabel B; Bole-Feysot C; Nitschke P; Handford P; Casanova JL; Boileau C; Apte SS; Munnich A; Cormier-Daire V
Am J Hum Genet; 2011 Jul; 89(1):7-14. PubMed ID: 21683322
[TBL] [Abstract][Full Text] [Related]
3. Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Arnaud P; Mougin Z; Boileau C; Le Goff C
Front Genet; 2021; 12():734718. PubMed ID: 34912367
[TBL] [Abstract][Full Text] [Related]
4. The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Delhon L; Mougin Z; Jonquet J; Bibimbou A; Dubail J; Bou-Chaaya C; Goudin N; Le Goff W; Boileau C; Cormier-Daire V; Le Goff C
Hum Mol Genet; 2022 Nov; 31(22):3777-3788. PubMed ID: 35660865
[TBL] [Abstract][Full Text] [Related]
5. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
[TBL] [Abstract][Full Text] [Related]
6. Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
Cain SA; McGovern A; Baldwin AK; Baldock C; Kielty CM
PLoS One; 2012; 7(11):e48634. PubMed ID: 23133647
[TBL] [Abstract][Full Text] [Related]
7. A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
Jensen SA; Iqbal S; Bulsiewicz A; Handford PA
Hum Mol Genet; 2015 Aug; 24(15):4454-63. PubMed ID: 25979247
[TBL] [Abstract][Full Text] [Related]
8. Fibrillin protein pleiotropy: Acromelic dysplasias.
Sakai LY; Keene DR
Matrix Biol; 2019 Jul; 80():6-13. PubMed ID: 30219651
[TBL] [Abstract][Full Text] [Related]
9. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P; Hanna N; Aubart M; Leheup B; Dupuis-Girod S; Naudion S; Lacombe D; Milleron O; Odent S; Faivre L; Bal L; Edouard T; Collod-Beroud G; Langeois M; Spentchian M; Gouya L; Jondeau G; Boileau C
J Med Genet; 2017 Feb; 54(2):100-103. PubMed ID: 27582083
[TBL] [Abstract][Full Text] [Related]
10. Separation in genetic pathogenesis of mutations in FBN1-TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome.
Sun C; Xu D; Pei Z; Yang L; Qiao Z; Lu W; Luo F; Qiu Z
Birth Defects Res; 2020 Dec; 112(20):1834-1842. PubMed ID: 33030311
[TBL] [Abstract][Full Text] [Related]
11. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD; Palacios-Reyes C; Chávez-Ocaña S; Cortés-Malagón EM; Alonso-Themann PG; Ramos-Cano V; Ramírez-Bello J; Sierra-Martínez M
BMC Musculoskelet Disord; 2016 Feb; 17():79. PubMed ID: 26875674
[TBL] [Abstract][Full Text] [Related]
12. Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.
Kim JA; Jang MA; Jang SY; Kim DK; Kim YG; Kim JW; Park TK; Jang JH
J Clin Lab Anal; 2024 Jan; 38(1-2):e25009. PubMed ID: 38234087
[TBL] [Abstract][Full Text] [Related]
13. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q; Deng Y; Yang Y; Liu H
BMC Pediatr; 2016 Apr; 16():60. PubMed ID: 27138491
[TBL] [Abstract][Full Text] [Related]
14. Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.
Kim SW; Kim B; Kim Y; Lee KA
Ann Lab Med; 2024 May; 44(3):271-278. PubMed ID: 37840311
[TBL] [Abstract][Full Text] [Related]
15. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW; Luk HM; Chu YWY; Tung YL; Kwan EY; Lo IF; Chung BH
Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498
[TBL] [Abstract][Full Text] [Related]
16. Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.
Bitarafan F; Razmara E; Khodaeian M; Keramatipour M; Kalhor A; Jafarinia E; Garshasbi M
Mol Genet Genomic Med; 2020 Aug; 8(8):e1274. PubMed ID: 32431097
[TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L; Luciano S; Salehi LB; Gigante L; Conte C; Longo G; Ferradini V; Piumelli N; Brancati F; Ruvolo G; Novelli G; Sangiuolo F
Clin Chim Acta; 2020 Feb; 501():154-164. PubMed ID: 31730815
[TBL] [Abstract][Full Text] [Related]
18. Exogenous activation of BMP-2 signaling overcomes TGFβ-mediated inhibition of osteogenesis in Marfan embryonic stem cells and Marfan patient-specific induced pluripotent stem cells.
Quarto N; Li S; Renda A; Longaker MT
Stem Cells; 2012 Dec; 30(12):2709-19. PubMed ID: 23037987
[TBL] [Abstract][Full Text] [Related]
19. Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Arnaud P; Morel H; Milleron O; Gouya L; Francannet C; Da Costa A; Le Goff C; Jondeau G; Boileau C; Hanna N
Genet Med; 2021 May; 23(5):865-871. PubMed ID: 33495528
[TBL] [Abstract][Full Text] [Related]
20. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM; Le Goff C; Leo PJ; Kenna TJ; Keith P; Harris JE; Steer R; Bole-Feysot C; Nitschke P; Kielty C; Brown MA; Zankl A; Duncan EL; Cormier-Daire V
J Med Genet; 2016 Jul; 53(7):457-64. PubMed ID: 27068007
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]