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

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Journal of assisted reproduction and genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Science advances·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.

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Related Experiment Videos

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

Related Concept Videos

Related Articles