46 results on '"Clouston, Penny"'
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2. Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
3. “Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”
4. A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.
5. Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
6. Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
7. A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
8. Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
9. MERTK missense variants in three patients with retinitis pigmentosa
10. Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
11. The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
12. MERTK missense variants in three patients with retinitis pigmentosa.
13. Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
14. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa
15. Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
16. Detection Rate of Pathogenic Mutations in ABCA4 Using Direct Sequencing: Clinical and Research Implications
17. “Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”
18. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases
19. Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
20. Association of Messenger RNA Level With Phenotype in Patients With Choroideremia
21. Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
22. Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200
23. Presence of corneal crystals confirms an unusual presentation of Bietti’s retinal dystrophy
24. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
25. Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration
26. The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy
27. Atypical choroideremia presenting with early‐onset macular atrophy
28. Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.
29. Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy
30. Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant
31. Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene
32. A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
33. Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
34. Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes
35. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
36. De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
37. Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant.
38. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
39. A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
40. Erratum: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
41. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
42. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
43. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
44. Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
45. Fragile XE: an important differential diagnosis.
46. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
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