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Quoted phrase not found in phrase index: "Fibrosis of extraocular muscles, congenital, 5"
Page 1
Congenital cranial dysinnervation disorders: a concept in evolution.
Bosley TM, Abu-Amero KK, Oystreck DT. Bosley TM, et al. Curr Opin Ophthalmol. 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6. Curr Opin Ophthalmol. 2013. PMID: 23872818 Review.
PURPOSE OF REVIEW: We review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinnervation disorders (CCDDs). ...For certain CCDDs, the phenotype of a particular individual may not completely predict the genotype, a …
PURPOSE OF REVIEW: We review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinn …
Understanding ocular torticollis in children.
Boricean ID, Bărar A. Boricean ID, et al. Oftalmologia. 2011;55(1):10-26. Oftalmologia. 2011. PMID: 21774381 Review.
The more common diseases causing face turn are Duane syndrome, congenital fibrosis of extraocular muscles, nystagmus, refractive errors, visual field defects. The most frequent ocular causes of head tilt in children are congenital nystagmus, sup …
The more common diseases causing face turn are Duane syndrome, congenital fibrosis of extraocular muscles, nysta …
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment.
Merino P, Gómez de Liaño P, Fukumitsu H, Franco G, Ruiz Y. Merino P, et al. Strabismus. 2013 Sep;21(3):183-9. doi: 10.3109/09273972.2013.811605. Strabismus. 2013. PMID: 23978146
PURPOSE: We analyzed findings of orbital and cranial magnetic resonance imaging (MRI) in patients with congenital fibrosis of the extraocular muscles (CFEOM). We described surgery and its outcome. MATERIAL AND METHOD: Nine out of 10 patients with clini …
PURPOSE: We analyzed findings of orbital and cranial magnetic resonance imaging (MRI) in patients with congenital fibrosis of …
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
Lu S, Zhao C, Zhao K, Li N, Larsson C. Lu S, et al. Arch Ophthalmol. 2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388. Arch Ophthalmol. 2008. PMID: 18332320
OBJECTIVE: To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). METHODS: Ophthalmic investigations included visual acuity, levator function, …
OBJECTIVE: To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital …
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.
Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC. Nakano M, et al. Nat Genet. 2001 Nov;29(3):315-20. doi: 10.1038/ng744. Nat Genet. 2001. PMID: 11600883
Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders remain unclear. The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are c …
Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders re …
Natural history of presumed congenital Brown syndrome.
Kaban TJ, Smith K, Orton RB, Noel LP, Clarke W, Cadera W. Kaban TJ, et al. Arch Ophthalmol. 1993 Jul;111(7):943-6. doi: 10.1001/archopht.1993.01090070061020. Arch Ophthalmol. 1993. PMID: 8328936
OBJECTIVE: To evaluate the stability of the ocular alignment in patients with presumed congenital Brown syndrome. DESIGN: A retrospective review of patients with Brown syndrome with an emphasis on nonsurgical cases. ...Six (10%) of the entire group of 60 patients experienc …
OBJECTIVE: To evaluate the stability of the ocular alignment in patients with presumed congenital Brown syndrome. DESIGN: A retrospec …
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC. Chan WM, et al. BMC Genet. 2007 May 18;8:26. doi: 10.1186/1471-2156-8-26. BMC Genet. 2007. PMID: 17511870 Free PMC article.
BACKGROUND: Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. ...KIF21A encodes a kinesin motor involved in an …
BACKGROUND: Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant …
Phenotype-genotype correlation in two patients with 12q proximal deletion.
Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. J Hum Genet. 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5. J Hum Genet. 2004. PMID: 15362574
The overlapped region in the deletions spanned 6.2 Mb where at least 15 genes were predicted to localize on the current human genome database. Among them, YAF2 and AMIGO2 were the most plausible candidates to affect growth and psychomotor retardation, respectively, in both …
The overlapped region in the deletions spanned 6.2 Mb where at least 15 genes were predicted to localize on the current human genome …