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Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

• Authors : Sono, Reiri; Larrinaga, Tania M; Huang, Alden

Subjects: Heart; Humans; Cardiomyopathy

• Source: Cells. 12(11)

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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review

• Authors : Emran Esmaeilzadeh; Sajjad Biglari; Meysam Mosallaei

Subjects: DIAPH1; exome sequencing; microcephaly

• Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)

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Rapid establishment of Oct4: EGFP transgenic zebrafish homozygote through gynogenesis for monitoring the pluripotency during induction of pluripotent stem cells

• Authors : Wenting Xu; Wen Fu; Mindi Long

Subjects: Oct4; Transgenic fish; Homozygote

• Source: Reproduction and Breeding, Vol 2, Iss 3, Pp 106-111 (2022)

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Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder.

• Authors : Ardon, Monica; Nguyen, Lily; Chen, Rui

Subjects: Biomedical and Clinical Sciences; Ophthalmology and Optometry; Eye Disease and Disorders of Vision

• Source: Investigative Ophthalmology & Visual Science. 65(14)

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Homozygote 2L-C.8.70/C.8.70 showing breakpoints of inversion 2L-70.

• Authors : Shannon M. Hedtke; Rory J. Post; Sindew Mekasha Feleke

Subjects: Cell Biology; Genetics; Biotechnology

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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

• Authors : Afrooz Sepahvand; Ehsan Razmara; Fatemeh Bitarafan

Subjects: PCR‐RFLP; pontocerebellar hypoplasias; synonymous variant

• Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

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How to achieve a higher selection plateau in forest tree breeding? : Fostering heterozygote x homozygote relationships in optimal contribution selection in the case study of Populus nigra

• Authors : Tiret, Mathieu; Pégard, Marie; Sánchez, Leopoldo

Subjects: genomic selection; heterozygote x homozygote relationship; optimal contribution selection

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“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade

• Authors : Hadad, Sara; Gupta, Rohit; Oberheim Bush, Nancy Ann

Subjects: Biomedical and Clinical Sciences; Clinical Sciences; Oncology and Carcinogenesis

• Source: Acta Neuropathologica. 147(1)

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Rank-based inverse normal transformations are increasingly used, but are they merited?

• Authors : Beasley TM; Department of Biostatistics, Section on Statistical Genetics, University of Alabama at Birmingham, Ryals Public Health Building, Suite 327, Birmingham, AL, 35294, USA. ; Erickson S

Subjects: Genetics*; Alleles ; Chromosome Mapping

• Source: Behavior genetics [Behav Genet] 2009 Sep; Vol. 39 (5), pp. 580-95. Date of Electronic Publication: 2009 Jun 14.Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0251711 Publication Model: Print-Electronic Cited Medium:

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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

• Authors : Ehsan Razmara; Fatemeh Bitarafan; Masoud Garshasbi

Subjects: 0301 basic medicine; Proband; Male

• Source: Molecular Genetics & Genomic MedicineMolecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

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