150 related articles for article (PubMed ID: 33916386)
1. Intragenic Deletions in
Fukushima K; Parthasarathy P; Wade EM; Morgan T; Gowrishankar K; Markie DM; Robertson SP
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33916386
[TBL] [Abstract][Full Text] [Related]
2. Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Yang CF; Wang CH; Siong H'ng W; Chang CP; Lin WD; Chen YT; Wu JY; Tsai FJ
Hum Mutat; 2017 May; 38(5):540-547. PubMed ID: 28145000
[TBL] [Abstract][Full Text] [Related]
3. Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Salian S; Shukla A; Shah H; Bhat SN; Bhat VR; Nampoothiri S; Shenoy R; Phadke SR; Hariharan SV; Girisha KM
Clin Genet; 2018 Jul; 94(1):159-164. PubMed ID: 29566257
[TBL] [Abstract][Full Text] [Related]
4. Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.
Carapito R; Goldenberg A; Paul N; Pichot A; David A; Hamel A; Dumant-Forest C; Leroux J; Ory B; Isidor B; Bahram S
Eur J Hum Genet; 2016 Dec; 24(12):1746-1751. PubMed ID: 27381093
[TBL] [Abstract][Full Text] [Related]
5. Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.
Shimizu H; Watanabe S; Kinoshita A; Mishima H; Nishimura G; Moriuchi H; Yoshiura KI; Dateki S
J Hum Genet; 2019 May; 64(5):467-471. PubMed ID: 30796325
[TBL] [Abstract][Full Text] [Related]
6. Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
Yasin S; Makitie O; Naz S
BMC Musculoskelet Disord; 2021 Jan; 22(1):31. PubMed ID: 33407338
[TBL] [Abstract][Full Text] [Related]
7. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Takagi M; Shimomura S; Fukuzawa R; Narumi S; Nishimura G; Hasegawa T
J Hum Genet; 2018 Dec; 63(12):1277-1281. PubMed ID: 30228365
[TBL] [Abstract][Full Text] [Related]
8. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR; Wells CF; Simon M; Wessels M; Tang CZN; Wei W; Takei R; Aarts-Tesselaar C; Sandaradura S; Sillence DO; Cordier MP; Veenstra-Knol HE; Cassina M; Ludwig K; Trevisson E; Bahlo M; Markie DM; Jenkins ZA; Robertson SP
Am J Hum Genet; 2018 Jun; 102(6):1115-1125. PubMed ID: 29805041
[TBL] [Abstract][Full Text] [Related]
9. TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.
Zieba J; Forlenza KN; Khatra JS; Sarukhanov A; Duran I; Rigueur D; Lyons KM; Cohn DH; Merrill AE; Krakow D
PLoS Genet; 2016 Mar; 12(3):e1005936. PubMed ID: 27019229
[TBL] [Abstract][Full Text] [Related]
10. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J; Zhang W; Chong JX; Forlenza KN; Martin JH; Heard K; Grange DK; Butler MG; Kleefstra T; Lachman RS; Nickerson D; Regnier M; Cohn DH; Bamshad M; Krakow D
Sci Rep; 2017 Feb; 7():41803. PubMed ID: 28205584
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
Zhang J; Chen WQ; Wang SW; Wang SX; Yu M; Guo Q; Yu YD
Mol Genet Genomic Med; 2020 Oct; 8(10):e1440. PubMed ID: 32767732
[TBL] [Abstract][Full Text] [Related]
12. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
Farrington-Rock C; Kirilova V; Dillard-Telm L; Borowsky AD; Chalk S; Rock MJ; Cohn DH; Krakow D
Hum Mol Genet; 2008 Mar; 17(5):631-41. PubMed ID: 17635842
[TBL] [Abstract][Full Text] [Related]
13. Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis.
Assir MZK; Waseem T
Clin Dysmorphol; 2012 Jul; 21(3):144-147. PubMed ID: 22561843
[No Abstract] [Full Text] [Related]
14. A Stop-gain Variant c.220C>T (p.(Gln74*)) in
Shahid H; Shakoor N; Bibi A; Qazi AS; Saeed RF; Nawaz A; Malik S; Mumtaz S
Yale J Biol Med; 2023 Sep; 96(3):383-396. PubMed ID: 37781000
[TBL] [Abstract][Full Text] [Related]
15. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.
Mitter D; Krakow D; Farrington-Rock C; Meinecke P
Am J Med Genet A; 2008 Mar; 146A(6):779-83. PubMed ID: 18257094
[TBL] [Abstract][Full Text] [Related]
16. An unusual case of congenital scoliosis in a patient with Down syndrome.
Ranade AS; Ahmed I; Williams RA; Samdani AF
J Pediatr Orthop B; 2009 Nov; 18(6):365-8. PubMed ID: 19734808
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
Isidor B; Cormier-Daire V; Le Merrer M; Lefrancois T; Hamel A; Le Caignec C; David A; Jacquemont S
Am J Med Genet A; 2008 Jun; 146A(12):1593-7. PubMed ID: 18470895
[TBL] [Abstract][Full Text] [Related]
18. A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
Qasim H; Khan H; Zeb H; Ahmad A; Ilyas M; Zahoor M; Umar MN; Ullah R; Ali EA
J Basic Clin Physiol Pharmacol; 2024 May; ():. PubMed ID: 38743867
[TBL] [Abstract][Full Text] [Related]
19. Filamin B: The next hotspot in skeletal research?
Xu Q; Wu N; Cui L; Wu Z; Qiu G
J Genet Genomics; 2017 Jul; 44(7):335-342. PubMed ID: 28739045
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
