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

Widespread male-female expression imbalance of X-linked genes across phrynosomatid lizards.

Molecular biology and evolution·2026

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

Brain communications·2026

Disrupting peripheral serotonin synthesis drives sex-specific alterations in sociability and cognition, and reshapes the gut-immune-brain axis.

Brain, behavior, and immunity·2026

Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.

Legal medicine (Tokyo, Japan)·2026

LINE-1 repeats are a defining feature of the Xce.

Proceedings of the National Academy of Sciences of the United States of America·2026

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

JCI insight·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.

Widespread male-female expression imbalance of X-linked genes across phrynosomatid lizards.

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

Disrupting peripheral serotonin synthesis drives sex-specific alterations in sociability and cognition, and reshapes the gut-immune-brain axis.

Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.

LINE-1 repeats are a defining feature of the Xce.

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

Related Experiment Videos

Triploid-diploid mosaïcism in a deeply mentally retarded adult

Abstract:

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