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Quoted phrase not found in phrase index: "Coloboma, ocular, autosomal recessive"
Page 1
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives. Mean ages of onset of the different classes of RP were autosomal dominant RP, 19.3 12.6 years; autosomal recessive RP, 23.2 16.6 years; X-linked RP, …
We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives. Mean ages of onset of the dif …
Ocular coloboma.
Pagon RA. Pagon RA. Surv Ophthalmol. 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. Surv Ophthalmol. 1981. PMID: 6782689 Review.
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal domina …
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinica …
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA. Parisi MA. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876931 Free PMC article. Review.
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or func …
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformati …
Uveal coloboma: clinical and basic science update.
Chang L, Blain D, Bertuzzi S, Brooks BP. Chang L, et al. Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6. Curr Opin Ophthalmol. 2006. PMID: 16932062 Review.
The relative roles of genetics and environment on this process remain elusive. While most cases of coloboma are sporadic, autosomal dominant, autosomal recessive, and X-linked inheritance patterns have been described. Genetically, colobomata demonstrat …
The relative roles of genetics and environment on this process remain elusive. While most cases of coloboma are sporadic, autosoma …
Three cases of molecularly confirmed Knobloch syndrome.
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M. Balikova I, et al. Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17. Ophthalmic Genet. 2020. PMID: 32178553
Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. ...High genetic and phenotypic variation has been reported in the affected patients.Materials and Methods: Here we provide detailed clinica …
Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. …
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. Arunrut T, et al. Am J Med Genet A. 2016 Oct;170(10):2711-8. doi: 10.1002/ajmg.a.37809. Epub 2016 Jun 20. Am J Med Genet A. 2016. PMID: 27320698 Review.
Exome sequencing identified homozygosity for c.970T>A, predicting p.(Cys324Ser), in the xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 (B4GALT7) gene. Variant segregation was consistent with autosomal recessive inheritance and the missense subs …
Exome sequencing identified homozygosity for c.970T>A, predicting p.(Cys324Ser), in the xylosylprotein 4-beta-galactosyltransferas …
Joubert syndrome: report of 11 cases.
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG. İncecik F, et al. Turk J Pediatr. 2012 Nov-Dec;54(6):605-11. Turk J Pediatr. 2012. PMID: 23692786 Free PMC article.
Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. ...Macrocephaly (1 patient), multiple renal cysts (1 patient), ocu …
Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable …
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E. Christensen AE, et al. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11. Invest Ophthalmol Vis Sci. 2010. PMID: 20702823
PURPOSE: To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. ...Molecular genetic studies included homozygosity mapping with SNP markers, DNA sequencing, a …
PURPOSE: To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia l …
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
Leonardi ML, Pai GS, Wilkes B, Lebel RR. Leonardi ML, et al. Am J Med Genet. 2001 Aug 15;102(3):237-42. Am J Med Genet. 2001. PMID: 11484200 Review.
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. ...Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia a …
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofaci …
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.
Shashi V, Zunich J, Kelly TE, Fryburg JS. Shashi V, et al. J Med Genet. 1995 Jun;32(6):465-9. doi: 10.1136/jmg.32.6.465. J Med Genet. 1995. PMID: 7666399 Free PMC article. Review.
A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital …
A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to b …
17 results