A family with a presumptive C-F translocation in five generations

Localisation of the classical DNA satellites on human chromosomes as determined by primed in situ labelling (PRINS).

Human genetics·1997

Extreme variant of the short arm of chromosome 15.

Human genetics·1996

Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older.

British journal of obstetrics and gynaecology·1995

Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.

Clinical genetics·1995

Staining of human telomeres with primed in situ labeling (PRINS).

Cytogenetics and cell genetics·1995

Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.

Clinical genetics·1993

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

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

A family with a presumptive C-F translocation in five generations

Related Concept Videos

Localisation of the classical DNA satellites on human chromosomes as determined by primed in situ labelling (PRINS).

Extreme variant of the short arm of chromosome 15.

Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older.

Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.

Staining of human telomeres with primed in situ labeling (PRINS).

Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

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

A family with a presumptive C-F translocation in five generations

Related Concept Videos

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