The cis-configuration effects of rare chromosomal fragile sites

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.

American journal of medical genetics·2001

Sister-chromatid exchange in highly purified human CD4+ and CD8+ lymphocytes.

Mutation research·1992

Twinning and mitotic crossing-over: some possibilities and their implications.

American journal of human genetics·1991

The cis-trans effects of crossing-over on the penetrance and expressivity of dominantly inherited disorders.

Annales de genetique·1989

[Hereditary juvenile dystrophy of the macula in a large family from Epirus].

Journal francais d'ophtalmologie·1989

Wilms' tumour and related syndromes. A unifying theory.

Annales de genetique·1989

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

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A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

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Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

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Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

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Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

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Association of miR-499, miR-27a, and miR-34a Gene Polymorphisms With Susceptibility to Type 2 Diabetes Mellitus in an Iranian Population: A Case-Control Study.

BioMed research international·2026

Atherosclerotic plaque fibroblasts derive from adventitial and medial Pdgfra-lineage-positive cells and predominantly maintain fibroblast identity.

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Revealing Causal Proteomic Signatures of Hypertension: Systematic Insights From Proteome-Wide Mendelian Randomization.

Hypertension (Dallas, Tex. : 1979)·2026

Inheritance entropy: A model-independent method to probe the hereditary structure of cell lineage trees.

PRX life·2026

Early life high-fat diet exposure modulates adult metabolic phenotypes in Drosophila.

iScience·2026

Decoding the Link: Exploring FMO3 Gene Variations as a Key to Understanding Type Two Diabetes Through Bioinformatics and Case-Control Analyses.

Indian journal of clinical biochemistry : IJCB·2026

Related Experiment Videos

The cis-configuration effects of rare chromosomal fragile sites

Related Concept Videos

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.

Sister-chromatid exchange in highly purified human CD4+ and CD8+ lymphocytes.

Twinning and mitotic crossing-over: some possibilities and their implications.

The cis-trans effects of crossing-over on the penetrance and expressivity of dominantly inherited disorders.

[Hereditary juvenile dystrophy of the macula in a large family from Epirus].

Wilms' tumour and related syndromes. A unifying theory.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Association of miR-499, miR-27a, and miR-34a Gene Polymorphisms With Susceptibility to Type 2 Diabetes Mellitus in an Iranian Population: A Case-Control Study.

Atherosclerotic plaque fibroblasts derive from adventitial and medial Pdgfra-lineage-positive cells and predominantly maintain fibroblast identity.

Revealing Causal Proteomic Signatures of Hypertension: Systematic Insights From Proteome-Wide Mendelian Randomization.

Inheritance entropy: A model-independent method to probe the hereditary structure of cell lineage trees.

Early life high-fat diet exposure modulates adult metabolic phenotypes in Drosophila.

Decoding the Link: Exploring FMO3 Gene Variations as a Key to Understanding Type Two Diabetes Through Bioinformatics and Case-Control Analyses.

Related Experiment Videos

The cis-configuration effects of rare chromosomal fragile sites

Abstract:

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