Triploid-diploid mosaïcism in a deeply mentally retarded adult

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

Clinical genetics·1992

The primary sequence and the subunit structure of mouse alpha-2-macroglobulin, deduced from protein sequencing of the isolated subunits and from molecular cloning of the cDNA.

European journal of biochemistry·1992

Developmental changes in heparan sulfate expression: in situ detection with mAbs.

The Journal of cell biology·1992

Leukaemic intermediate lymphocytic lymphomas: analysis of twelve cases diagnosed by morphology.

Leukemia & lymphoma·1992

Trisomy 7 and trisomy 10 characterize subpopulations of tumor-infiltrating lymphocytes in kidney tumors and in the surrounding kidney tissue.

Proceedings of the National Academy of Sciences of the United States of America·1992

Cell surface heparan sulfate proteoglycans from human vascular endothelial cells. Core protein characterization and antithrombin III binding properties.

The Journal of biological chemistry·1992

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

A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

JCI insight·2026

Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review.

Pediatric endocrinology, diabetes, and metabolism·2026

Oxidative stress and insulin resistance in Libyan Down syndrome individuals: assessment and association compared to a healthy comparison group.

Pediatric endocrinology, diabetes, and metabolism·2026

Age-related differences in sperm chromatin packaging and protein profiles based on SDS-PAGE in Bali bulls (Bos javanicus).

Journal of advanced veterinary and animal research·2026

Joint Effects of Long-Term Obesity and Genetic Susceptibility on Sex-Specific Brain Aging.

Obesity (Silver Spring, Md.)·2026

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Progress in neuro-psychopharmacology & biological psychiatry·2026

Related Experiment Videos

Triploid-diploid mosaïcism in a deeply mentally retarded adult

Related Concept Videos

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

The primary sequence and the subunit structure of mouse alpha-2-macroglobulin, deduced from protein sequencing of the isolated subunits and from molecular cloning of the cDNA.

Developmental changes in heparan sulfate expression: in situ detection with mAbs.

Leukaemic intermediate lymphocytic lymphomas: analysis of twelve cases diagnosed by morphology.

Trisomy 7 and trisomy 10 characterize subpopulations of tumor-infiltrating lymphocytes in kidney tumors and in the surrounding kidney tissue.

Cell surface heparan sulfate proteoglycans from human vascular endothelial cells. Core protein characterization and antithrombin III binding properties.

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.

A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review.

Oxidative stress and insulin resistance in Libyan Down syndrome individuals: assessment and association compared to a healthy comparison group.

Age-related differences in sperm chromatin packaging and protein profiles based on SDS-PAGE in Bali bulls (Bos javanicus).

Joint Effects of Long-Term Obesity and Genetic Susceptibility on Sex-Specific Brain Aging.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Related Experiment Videos

Triploid-diploid mosaïcism in a deeply mentally retarded adult

Abstract:

Related Concept Videos

Related Articles