Search Results

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

• Authors : Giardina, E.; Capon, F.; De Rosa, MC.

Subjects: PSORIASIS; GENETIC polymorphisms; CHROMOSOMES

• Source: Annals of Human Genetics; Nov2004, Vol. 68 Issue 6, p639-645, 7p

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Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.

• Authors : Serrano-Juárez, Carlos Alberto; Prieto-Corona, Belén; Rodríguez-Camacho, Mario

Subjects: WILLIAMS syndrome; MEDICAL subject headings; SOCIAL skills

• Source: Neuropsychology Review; Dec2023, Vol. 33 Issue 4, p891-911, 21p

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Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect.

• Authors : Zhu, Caiyun; Yang, Yang; Pan, Bo

Subjects: CONGENITAL heart disease; GENETIC testing; SINGLE nucleotide polymorphisms

• Source: Genes; Apr2023, Vol. 14 Issue 4, p879, 13p

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Studies from Santa Lucia Foundation Add New Findings in the Area of Age-Related Macular Degeneration (The Interplay Between Mirna-related Variants and Age-related Macular Degeneration: Evidence of Association of Mir146a and Mir27a)

• Source: Obesity, Fitness & Wellness Week. May 25, 2019, 1242

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CRISPR/Cas9-Mediated Enrichment Coupled to Nanopore Sequencing Provides a Valuable Tool for the Precise Reconstruction of Large Genomic Target Regions.

• Authors : Lopatriello, Giulia; Maestri, Simone; Alfano, Massimiliano

Subjects: CRISPRS; COMMON bean; GENETIC variation

• Source: International Journal of Molecular Sciences; Jan2023, Vol. 24 Issue 2, p1076, 16p

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Delta F508 gene deletion in cystic fibrosis in southern Europe.

• Authors : Estivill, X (AUTHOR); Chillon, M (AUTHOR); Casals, T (AUTHOR)

Subjects: CHROMOSOMES; COMPARATIVE studies; CYSTIC fibrosisITALY; SPAIN

• Source: Lancet. 12/9/1989, Vol. 334 Issue 8676, p1404-1404. 1p.

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Whole genome sequencing of low input circulating cell‐free DNA obtained from normal human subjects.

• Authors : Foley, Julie F.; Elgart, Brian; Alex Merrick, B.

Subjects: CELL-free DNA; CIRCULATING tumor DNA; NUCLEOTIDE sequencing

• Source: Physiological Reports; Aug2021, Vol. 9 Issue 15, p1-10, 10p

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Clinical significance and mechanisms associated with segmental UPD.

• Authors : Papenhausen, Peter R.; Kelly, Carla A.; Harris, Samuel

Subjects: CHORIONIC villus sampling; PHENOTYPES; PRENATAL diagnosis

• Source: Molecular Cytogenetics (17558166); 7/20/2021, Vol. 14 Issue 1, p1-22, 22p

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Mapping a Dominant Form of Multinodular Goiter to Chromosome Xp22.

• Authors : Capon, F.; Tacconelli, A.; Giardina, E.

Subjects: GOITER; CHROMOSOMES

• Source: American Journal of Human Genetics. Oct2000, Vol. 67 Issue 4, p1004-1007. 4p. 1 Diagram, 1 Chart, 1 Graph.

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Single nucleotide polymorphisms affect miRNA target prediction in bovine

• Authors : Sousa, Marco Antonio Perpetuo de; de Athayde, Flavia Regina Florencio; Maldonado, Mariangela Bueno Cordeiro

• Source: PLoS ONE. April 21, 2021, Vol. 16 Issue 4, e0249406

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