نتائج البحث

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

• Authors : Salort-Campana, E.; Fatehi, F.; Beloribi-Djefaflia, S.

Subjects: Adult; Alleles; Attention

• Source: International journal of molecular sciences, vol. 21, no. 6, pp. 2221

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Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

• Authors : Rose, A.M.; Shah, A.Z.; Venturini, G.

Subjects: Alleles; Binding Sites; Conserved Sequence

• Source: Scientific reports, vol. 6, pp. 19450

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Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

• Authors : Abouzeid, H.; Schorderet, D.F.; Balmer, A.

Subjects: Adolescent; Adult; Child

• Source: Molecular Vision, vol. 15, pp. 771-777

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Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

• Authors : Rio Frio, T.; Civic, N.; Ransijn, A.

Subjects: Alleles; Cell Line; Transformed

• Source: Human Molecular Genetics, vol. 17, no. 20, pp. 3154-3165

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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

• Authors : Salort-Campana, E.; Nguyen, K.; Bernard, R.

• Source: Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 2

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CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

• Authors : Venturini, G.; Rose, A.M.; Shah, A.Z.

• Source: PLOS Genetics, vol. 8, no. 11, pp. e1003040

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A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

• Authors : Frio, T.R.; McGee, T.L.; Wade, N.M.

• Source: Human Mutation, vol. 30, no. 9, pp. 1340-1347

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The pleiotropic spectrum of proximal 16p11.2 CNVs.

• Authors : Auwerx, C.; Kutalik, Z.; Reymond, A.

Subjects: Humans; Chromosomes; Human

• Source: American journal of human genetics, vol. 111, no. 11, pp. 2309-2346

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Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

• Authors : Prando, C.; Samarina, A.; Bustamante, J.

Subjects: Adolescent; Adult; Age of Onset

• Source: Medicine, vol. 92, no. 2, pp. 109-122

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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

• Authors : Stankiewicz, P.; Kulkarni, S.; Dharmadhikari, A.V.

Subjects: Abnormalities; Multiple/genetics; Child

• Source: Human Mutation, vol. 33, no. 1, pp. 165-179

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