206 related articles for article (PubMed ID: 27793082)
1. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Leegwater PA; Vos-Loohuis M; Ducro BJ; Boegheim IJ; van Steenbeek FG; Nijman IJ; Monroe GR; Bastiaansen JW; Dibbits BW; van de Goor LH; Hellinga I; Back W; Schurink A
BMC Genomics; 2016 Oct; 17(1):839. PubMed ID: 27793082
[TBL] [Abstract][Full Text] [Related]
2. Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG; Davies JH; Moon RJ; Fairhurst J; Bunyan D; ; Foulds N
Am J Med Genet A; 2016 Jun; 170(6):1556-63. PubMed ID: 26940150
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic diagnosis of dwarfism in six Friesian horses.
Back W; van der Lugt JJ; Nikkels PG; van den Belt AJ; van der Kolk JH; Stout TA
Equine Vet J; 2008 May; 40(3):282-7. PubMed ID: 18267883
[TBL] [Abstract][Full Text] [Related]
4. Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL; Celse T; Spodenkiewicz M; Calaya A; Dumont C; Jacquemont ML; Bertaut-Nativel B; Boumahni B; Rémy M; Ferroul F; Guilly S; Huby T; Irabé M; Laurens T; Munier P; Morel G; Payet F; Randrianaivo H; Doray B; Dospeux J
Eur J Med Genet; 2024 Jun; 69():104940. PubMed ID: 38705458
[TBL] [Abstract][Full Text] [Related]
5. Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses.
Orr N; Back W; Gu J; Leegwater P; Govindarajan P; Conroy J; Ducro B; Van Arendonk JA; MacHugh DE; Ennis S; Hill EW; Brama PA
Anim Genet; 2010 Dec; 41 Suppl 2():2-7. PubMed ID: 21070269
[TBL] [Abstract][Full Text] [Related]
6. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-
Caraffi SG; Maini I; Ivanovski I; Pollazzon M; Giangiobbe S; Valli M; Rossi A; Sassi S; Faccioli S; Rocco MD; Magnani C; Campos-Xavier B; Unger S; Superti-Furga A; Garavelli L
Genes (Basel); 2019 Oct; 10(10):. PubMed ID: 31614862
[TBL] [Abstract][Full Text] [Related]
7. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Cartault F; Munier P; Jacquemont ML; Vellayoudom J; Doray B; Payet C; Randrianaivo H; Laville JM; Munnich A; Cormier-Daire V
Eur J Hum Genet; 2015 Jan; 23(1):49-53. PubMed ID: 24755949
[TBL] [Abstract][Full Text] [Related]
8. Current insights into the molecular genetic basis of dwarfism in livestock.
Boegheim IJM; Leegwater PAJ; van Lith HA; Back W
Vet J; 2017 Jun; 224():64-75. PubMed ID: 28697878
[TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Faiyaz-Ul-Haque M; Zaidi SH; Al-Ali M; Al-Mureikhi MS; Kennedy S; Al-Thani G; Tsui LC; Teebi AS
Am J Med Genet A; 2004 Jul; 128A(1):39-45. PubMed ID: 15211654
[TBL] [Abstract][Full Text] [Related]
10. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
Guo MH; Stoler J; Lui J; Nilsson O; Bianchi DW; Hirschhorn JN; Dauber A
Am J Med Genet A; 2013 Oct; 161A(10):2519-27. PubMed ID: 23956117
[TBL] [Abstract][Full Text] [Related]
11. Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D; Kress W; Zaum AK; Speer CP; Hebestreit H
BMC Pediatr; 2021 Jun; 21(1):293. PubMed ID: 34193099
[TBL] [Abstract][Full Text] [Related]
12. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Arunrut T; Sabbadini M; Jain M; Machol K; Scaglia F; Slavotinek A
Am J Med Genet A; 2016 Oct; 170(10):2711-8. PubMed ID: 27320698
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses.
de Andrade DGA; Basso RM; Magro AJ; Laufer-Amorim R; Borges AS; de Oliveira-Filho JP
Sci Rep; 2020 Sep; 10(1):15238. PubMed ID: 32943661
[TBL] [Abstract][Full Text] [Related]
14. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T; Zygmunt DA; Koboldt DC; Kelly BJ; Johnson LR; McKenna DS; Hood BC; Hickey SE; White P; Wilson RK; Martin PT; McBride KL
Eur J Hum Genet; 2019 Oct; 27(10):1569-1577. PubMed ID: 31278392
[TBL] [Abstract][Full Text] [Related]
15. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli M; Dordoni C; Cinquina V; Venturini M; Calzavara-Pinton P; Colombi M
Orphanet J Rare Dis; 2017 Sep; 12(1):153. PubMed ID: 28882145
[TBL] [Abstract][Full Text] [Related]
16. A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.
Ducro BJ; Schurink A; Bastiaansen JW; Boegheim IJ; van Steenbeek FG; Vos-Loohuis M; Nijman IJ; Monroe GR; Hellinga I; Dibbits BW; Back W; Leegwater PA
BMC Genomics; 2015 Oct; 16():761. PubMed ID: 26452345
[TBL] [Abstract][Full Text] [Related]
17. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
Seidler DG; Faiyaz-Ul-Haque M; Hansen U; Yip GW; Zaidi SH; Teebi AS; Kiesel L; Götte M
J Mol Med (Berl); 2006 Jul; 84(7):583-94. PubMed ID: 16583246
[TBL] [Abstract][Full Text] [Related]
18. Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
Eberth JE; Graves KT; MacLeod JN; Bailey E
Anim Genet; 2018 Oct; 49(5):413-420. PubMed ID: 30058072
[TBL] [Abstract][Full Text] [Related]
19. Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Sandler-Wilson C; Wambach JA; Marshall BA; Wegner DJ; McAlister W; Cole FS; Shinawi M
Bone; 2019 Jul; 124():14-21. PubMed ID: 30914273
[TBL] [Abstract][Full Text] [Related]
20. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
Delbaere S; Van Damme T; Syx D; Symoens S; Coucke P; Willaert A; Malfait F
Matrix Biol; 2020 Jul; 89():59-75. PubMed ID: 31862401
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
