144 related articles for article (PubMed ID: 37506754)
1. Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Guo D; Liu L; Yang F; Young CA; Zheng D; Jin G
Exp Eye Res; 2023 Sep; 234():109606. PubMed ID: 37506754
[TBL] [Abstract][Full Text] [Related]
2. A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi H; Zha X; Zhu Y; Lv J; Hu S; Kong Y; Wu G; Yang Y; He Y
J Hum Genet; 2019 Jul; 64(7):681-687. PubMed ID: 31019231
[TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Shah MH; Bhat V; Shetty JS; Kumar A
Mol Vis; 2014; 20():790-6. PubMed ID: 24940034
[TBL] [Abstract][Full Text] [Related]
4. Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
Al Motawa MNA; Al Shehri MSS; Al Buali MJ; Al Agnam AAM
Am J Case Rep; 2021 May; 22():e930824. PubMed ID: 34057920
[TBL] [Abstract][Full Text] [Related]
5. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Evans DR; Green JS; Fahiminiya S; Majewski J; Fernandez BA; Deardorff MA; Johnson GJ; Whelan JH; Hubmacher D; Apte SS; ; Woods MO
Sci Rep; 2020 Jul; 10(1):10827. PubMed ID: 32616716
[TBL] [Abstract][Full Text] [Related]
6. A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
Karoulias SZ; Beyens A; Balic Z; Symoens S; Vandersteen A; Rideout AL; Dickinson J; Callewaert B; Hubmacher D
Matrix Biol; 2020 Jun; 88():1-18. PubMed ID: 31726086
[TBL] [Abstract][Full Text] [Related]
7. Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P; Rondeau S; Alessandri JL; Dieterich K; le Goff C; Mahaut C; Mercier S; Michot C; Moldovan O; Miolo G; Rossi M; Van-Gils J; Francannet C; Robert MP; Jaïs JP; Huber C; Cormier-Daire V
J Med Genet; 2024 Jan; 61(2):109-116. PubMed ID: 37734846
[TBL] [Abstract][Full Text] [Related]
8. Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.
Chen J; Wan J; Jin J; Jin G; Zheng Y; Zheng D; Zhong L
Ophthalmic Res; 2024; 67(1):340-347. PubMed ID: 38772353
[TBL] [Abstract][Full Text] [Related]
9. Novel homozygous
Miao N; Zhang Y; Liao JY; Zhou L; He JC; Yang RQ; Liu XY; Tang L
Int J Ophthalmol; 2023; 16(5):694-699. PubMed ID: 37206179
[TBL] [Abstract][Full Text] [Related]
10. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
Morales J; Al-Sharif L; Khalil DS; Shinwari JM; Bavi P; Al-Mahrouqi RA; Al-Rajhi A; Alkuraya FS; Meyer BF; Al Tassan N
Am J Hum Genet; 2009 Nov; 85(5):558-68. PubMed ID: 19836009
[TBL] [Abstract][Full Text] [Related]
11. A Pedigree Report of a Rare Case of Weill-Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations.
Lin Z; Zhu M; Deng H
Risk Manag Healthc Policy; 2021; 14():1785-1789. PubMed ID: 33958902
[TBL] [Abstract][Full Text] [Related]
12. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A; Kirmani S; Cetta F; Younge B; Hyland JC; Michels V
Am J Med Genet A; 2013 Dec; 161A(12):3130-2. PubMed ID: 24214363
[TBL] [Abstract][Full Text] [Related]
13. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
Haji-Seyed-Javadi R; Jelodari-Mamaghani S; Paylakhi SH; Yazdani S; Nilforushan N; Fan JB; Klotzle B; Mahmoudi MJ; Ebrahimian MJ; Chelich N; Taghiabadi E; Kamyab K; Boileau C; Paisan-Ruiz C; Ronaghi M; Elahi E
Hum Mutat; 2012 Aug; 33(8):1182-7. PubMed ID: 22539340
[TBL] [Abstract][Full Text] [Related]
14. Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway.
Oichi T; Taniguchi Y; Soma K; Oshima Y; Yano F; Mori Y; Chijimatsu R; Kim-Kaneyama JR; Tanaka S; Saito T
Cell Mol Life Sci; 2019 Dec; 76(23):4795-4809. PubMed ID: 31201465
[TBL] [Abstract][Full Text] [Related]
15. Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.
Hubmacher D; Schneider M; Berardinelli SJ; Takeuchi H; Willard B; Reinhardt DP; Haltiwanger RS; Apte SS
Sci Rep; 2017 Feb; 7():41871. PubMed ID: 28176809
[TBL] [Abstract][Full Text] [Related]
16. Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.
Li J; Jia X; Li S; Fang S; Guo X
Mol Vis; 2014; 20():1017-24. PubMed ID: 25053872
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.
Karoulias SZ; Taye N; Stanley S; Hubmacher D
Biomolecules; 2020 Apr; 10(4):. PubMed ID: 32290605
[TBL] [Abstract][Full Text] [Related]
19. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.
Farias FH; Johnson GS; Taylor JF; Giuliano E; Katz ML; Sanders DN; Schnabel RD; McKay SD; Khan S; Gharahkhani P; O'Leary CA; Pettitt L; Forman OP; Boursnell M; McLaughlin B; Ahonen S; Lohi H; Hernandez-Merino E; Gould DJ; Sargan DR; Mellersh C
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4716-21. PubMed ID: 20375329
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
