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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We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives.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We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives.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 …
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K. Marszałek-Kruk BA, et al. Genes (Basel). 2023 Dec 24;15(1):29. doi: 10.3390/genes15010029. Genes (Basel). 2023. PMID: 38254920 Free PMC article. Review.
The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. ...
The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal …
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 …
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.
Sambharia M, Freese ME, Donato F, Bathla G, Abukhiran IMM, Dantuma MI, Mansilla MA, Thomas CP. Sambharia M, et al. Nephron. 2024;148(4):264-272. doi: 10.1159/000527991. Epub 2023 Jan 6. Nephron. 2024. PMID: 36617405 Review.
The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. ...We present a case of a young adult presenting late to …
The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the …
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.
PURPOSE OF REVIEW: To integrate knowledge on the embryologic and molecular basis of optic fissure closure with clinical observations in patients with uveal coloboma. RECENT FINDINGS: Closure of the optic fissure has been well characterized and many genetic alterations have …
PURPOSE OF REVIEW: To integrate knowledge on the embryologic and molecular basis of optic fissure closure with clinical observations in pati …
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319
The reporting clinical laboratory classified the change as a variant of uncertain significance (VUS), and concluded "A genetic diagnosis of autosomal recessive CHIME syndrome is possible". The PIGL gene has been reported to cause two different autosomal re …
The reporting clinical laboratory classified the change as a variant of uncertain significance (VUS), and concluded "A genetic diagnosis of …
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. ...Among the associated malformations found in patients ascertained as having Joube …
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, ab …
Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.
Iyengar R, Deardorff M, Schmidt R, Nagiel A. Iyengar R, et al. Ophthalmic Genet. 2023 Dec;44(6):572-576. doi: 10.1080/13816810.2022.2161580. Epub 2023 Jan 3. Ophthalmic Genet. 2023. PMID: 36594712 Review.
Fluorescein angiography of the central macula showed hypofluorescence with persistence of deep choroidal vessels. An ocular gene panel was nondiagnostic, but subsequent whole-exome sequencing noted compound heterozygous, likely pathogenic MPDZ variants (c.3100C>T p....
Fluorescein angiography of the central macula showed hypofluorescence with persistence of deep choroidal vessels. An ocular gene pane …
Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
Mir A, AlMudhry M, AlOtaibi W, AlHazmi R, AlBaradie R, AlHarbi Q, Bashir S, Chamdine O, Housawi Y. Mir A, et al. J Pediatr Hematol Oncol. 2023 Jul 1;45(5):e613-e620. doi: 10.1097/MPH.0000000000002641. Epub 2023 Feb 20. J Pediatr Hematol Oncol. 2023. PMID: 36897649
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ). ...RESULTS: All the five patients in our cohort deve …
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic ger …
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C. Levinger N, et al. Eur J Ophthalmol. 2021 Nov;31(6):3349-3354. doi: 10.1177/1120672120977343. Epub 2020 Nov 25. Eur J Ophthalmol. 2021. PMID: 33238767
RESULTS: The four patients included in this study had high myopia and nystagmus at presentation. Ocular findings included vitreous syneresis, macular atrophy, macular coloboma, and retinal detachment. ...WES analysis, confirmed by Sanger sequencing revealed COL18A1 …
RESULTS: The four patients included in this study had high myopia and nystagmus at presentation. Ocular findings included vitreous sy …
71 results