[Karyotypic evolution of man x man hybrid cells]

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Journal of medical genetics·2002

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

European journal of human genetics : EJHG·2001

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

American journal of human genetics·2001

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Nature·2000

Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).

Human genetics·1995

The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

The Journal of investigative dermatology·1995

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

visPedigree: a comprehensive R package for tidying, analyzing, and visualizing breeding pedigrees.

Bioinformatics advances·2026

CycleMix: Gaussian mixture modeling of the cell cycle.

Bioinformatics advances·2026

TandemTwister: scalable genotyping and advanced visualization of tandem repeats.

NAR genomics and bioinformatics·2026

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat.

Journal of clinical laboratory analysis·2026

HIPK4 is a novel gene associated with teratozoospermia and male infertility.

Human reproduction open·2026

Edge Preserved U-Net for chromosome edge detection.

Computational biology and chemistry·2026

Related Experiment Videos

[Karyotypic evolution of man x man hybrid cells]

Related Concept Videos

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).

The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

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.

visPedigree: a comprehensive R package for tidying, analyzing, and visualizing breeding pedigrees.

CycleMix: Gaussian mixture modeling of the cell cycle.

TandemTwister: scalable genotyping and advanced visualization of tandem repeats.

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat.

HIPK4 is a novel gene associated with teratozoospermia and male infertility.

Edge Preserved U-Net for chromosome edge detection.

Related Experiment Videos

[Karyotypic evolution of man x man hybrid cells]

Related Concept Videos

Related Articles