236 related articles for article (PubMed ID: 31019231)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Khan AO; Aldahmesh MA; Al-Ghadeer H; Mohamed JY; Alkuraya FS
Ophthalmic Genet; 2012 Dec; 33(4):235-9. PubMed ID: 22486325
[TBL] [Abstract][Full Text] [Related]
11. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
Dagoneau N; Benoist-Lasselin C; Huber C; Faivre L; Mégarbané A; Alswaid A; Dollfus H; Alembik Y; Munnich A; Legeai-Mallet L; Cormier-Daire V
Am J Hum Genet; 2004 Nov; 75(5):801-6. PubMed ID: 15368195
[TBL] [Abstract][Full Text] [Related]
12. A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of
Hassani M; Taghizadeh S; Farahzad Broujeni A; Habibi M; Banitalebi S; Kasiri M; Sadeghi A; Nozari A
Adv Biomed Res; 2023; 12():114. PubMed ID: 37288014
[TBL] [Abstract][Full Text] [Related]
13. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L; Dollfus H; Lyonnet S; Alembik Y; Mégarbané A; Samples J; Gorlin RJ; Alswaid A; Feingold J; Le Merrer M; Munnich A; Cormier-Daire V
Am J Med Genet A; 2003 Dec; 123A(2):204-7. PubMed ID: 14598350
[TBL] [Abstract][Full Text] [Related]
14. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
Faivre L; Mégarbané A; Alswaid A; Zylberberg L; Aldohayan N; Campos-Xavier B; Bacq D; Legeai-Mallet L; Bonaventure J; Munnich A; Cormier-Daire V
Hum Genet; 2002 Apr; 110(4):366-70. PubMed ID: 11941487
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
Faivre L; Gorlin RJ; Wirtz MK; Godfrey M; Dagoneau N; Samples JR; Le Merrer M; Collod-Beroud G; Boileau C; Munnich A; Cormier-Daire V
J Med Genet; 2003 Jan; 40(1):34-6. PubMed ID: 12525539
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.
Ben Yahia S; Ouechtati F; Jelliti B; Nouira S; Chakroun S; Abdelhak S; Khairallah M
J Hum Genet; 2009 Sep; 54(9):550-3. PubMed ID: 19696795
[TBL] [Abstract][Full Text] [Related]
19. More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.
Pimienta AL; Wilcox WR; Reinstein E
Am J Med Genet A; 2013 Dec; 161A(12):3126-9. PubMed ID: 24039088
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
