Origins of genetic disease

Genetic contribution to male infertility.

Human reproduction (Oxford, England)·1998

Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility.

Human reproduction (Oxford, England)·1998

Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development.

Journal of cell science·1998

Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.

Proceedings of the National Academy of Sciences of the United States of America·1997

A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome.

Nature genetics·1997

Fertility investigations in the F1 hybrid and backcross progeny of cattle (Bos taurus) and yak (B. grunniens) in Mongolia.

Cytogenetics and cell genetics·1997

Rezpegaldesleukin treatment of moderate-to-severe atopic dermatitis (REZOLVE-AD): final results from the 16-week induction period of an international, double-blind, placebo-controlled, randomised phase 2b study.

Lancet (London, England)·2026

Robotic-arm-assisted versus conventional total knee replacement (RACER-Knee): a pragmatic, multicentre, participant-masked and assessor-masked, superiority, randomised controlled trial.

Lancet (London, England)·2026

Risk of transmission of amyloid β pathology via transfused blood products.

Lancet (London, England)·2026

Liver resection after atezolizumab and bevacizumab versus maintenance therapy for locally advanced hepatocellular carcinoma (TALENTOP): a multicentre, open-label, randomised, phase 3 trial.

Lancet (London, England)·2026

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Scientific reports·2026

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Journal of genetics and genomics = Yi chuan xue bao·2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Clinica chimica acta; international journal of clinical chemistry·2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

The Journal of heredity·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Related Experiment Videos

Origins of genetic disease

Related Concept Videos

Genetic contribution to male infertility.

Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility.

Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development.

Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.

A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome.

Fertility investigations in the F1 hybrid and backcross progeny of cattle (Bos taurus) and yak (B. grunniens) in Mongolia.

Rezpegaldesleukin treatment of moderate-to-severe atopic dermatitis (REZOLVE-AD): final results from the 16-week induction period of an international, double-blind, placebo-controlled, randomised phase 2b study.

Robotic-arm-assisted versus conventional total knee replacement (RACER-Knee): a pragmatic, multicentre, participant-masked and assessor-masked, superiority, randomised controlled trial.

Risk of transmission of amyloid β pathology via transfused blood products.

Liver resection after atezolizumab and bevacizumab versus maintenance therapy for locally advanced hepatocellular carcinoma (TALENTOP): a multicentre, open-label, randomised, phase 3 trial.

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Related Experiment Videos

Origins of genetic disease

Related Concept Videos

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