نتائج البحث

Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.

• Authors : Zhuang J; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian Province, China. .; Li Y

Subjects: Transcription Factors*/Transcription Factors*/Transcription Factors*/genetics ; Transcription Factors*/Transcription Factors*/Transcription Factors*/metabolism ; Limb Deformities, Congenital*/Limb Deformities, Congenital*/Limb Deformities, Congenital*/genetics Split hand foot deformity

• Source: BMC genomics [BMC Genomics] 2025 Feb 05; Vol. 26 (1), pp. 113. Date of Electronic Publication: 2025 Feb 05.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

تفاصيل العنوان

Heart disease in a mutant mouse model of spontaneous eosinophilic myocarditis maps to three loci.

• Authors : Zimmermann N; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Subjects: Mutation*; Chromosome Mapping/Chromosome Mapping/Chromosome Mapping/*methods ; Eosinophilia/Eosinophilia/Eosinophilia/*genetics

• Source: BMC genomics [BMC Genomics] 2019 Oct 11; Vol. 20 (1), pp. 727. Date of Electronic Publication: 2019 Oct 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

تفاصيل العنوان

Influence of selection on the probability of fixation at a locus with multiple alleles.

• Authors : Overall, A. D. J.¹ (AUTHOR); Waxman, D.² (AUTHOR)

• Source: BMC Genomics. 8/30/2024, Vol. 25 Issue 3, p1-10. 10p.

تفاصيل العنوان

Polygenic sex determination in the cichlid fish Astatotilapia burtoni.

• Authors : Roberts NB; Department of Biological Sciences and W. M. Keck Center for Behavioral Biology, North Carolina State University, Raleigh, NC, USA.; Juntti SA

Subjects: Genetic Association Studies* ; Inheritance Patterns*; Cichlids/Cichlids/Cichlids/*genetics

• Source: BMC genomics [BMC Genomics] 2016 Oct 26; Vol. 17 (1), pp. 835. Date of Electronic Publication: 2016 Oct 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

تفاصيل العنوان

Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.

• Authors : Broberg, Martin^1,2 (AUTHOR); Ampuja, Minna¹ (AUTHOR); Jones, Samuel² (AUTHOR)

• Source: BMC Genomics. 3/7/2024, Vol. 25 Issue 1, p1-11. 11p.

تفاصيل العنوان

De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm

• Authors : Benjamin F. Voight; Arupa Ganguly; Varun Aggarwala

Subjects: 0301 basic medicine; Mutation rate; Ubiquitin-Protein Ligases

• Source: BMC Genomics

تفاصيل العنوان

Comparison of information-theoretic to statistical methods for gene-gene interactions in the presence of genetic heterogeneity.

• Authors : Sucheston L; Department of Biostatistics, State University of New York, Buffalo, NY 14260, USA.; Chanda P

Subjects: Epistasis, Genetic* ; Genetic Heterogeneity* ; Information Theory*

• Source: BMC genomics [BMC Genomics] 2010 Sep 03; Vol. 11, pp. 487. Date of Electronic Publication: 2010 Sep 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

تفاصيل العنوان

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

• Authors : James R. Mickelson; Vidhya Jagannathan; Tosso Leeb

Subjects: 0301 basic medicine; Candidate gene; Linkage disequilibrium

• Source: BMC GenomicsBecker, Doreen; Minor, Katie M; Letko, Anna; Ekenstedt, Kari J; Jagannathan, Vidhya; Leeb, Tosso; Shelton, G Diane; Mickelson, James R; Drögemüller,

تفاصيل العنوان

Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population.

• Authors : Rouskas, Konstantinos^1,2 (AUTHOR); Katsareli, Efthymia A.³ (AUTHOR); Amerikanou, Charalampia³ (AUTHOR)

• Source: BMC Genomics. 8/5/2023, Vol. 24 Issue 1, p1-17. 17p.

تفاصيل العنوان

Comparison of information-theoretic to statistical methods for gene-gene interactions in the presence of genetic heterogeneity

• Authors : Lara Sucheston; David Tritchler; Murali Ramanathan

Subjects: Multifactor Dimensionality Reduction; lcsh:QH426-470; Genotype

• Source: BMC GenomicsBMC Genomics, Vol 11, Iss 1, p 487 (2010)

تفاصيل العنوان