Familial pericentric inversion of chromosome 1 with a note on reproductive risks

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

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Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

American journal of human genetics·2000

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.

Prenatal diagnosis·2000

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

American journal of medical genetics·1999

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

American journal of medical genetics·1999

Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.

American journal of medical genetics·1999

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

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From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

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Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

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Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

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Dynamic effects of short-term storage temperature and duration on the transcriptome and functional pathways of umbilical cord blood-derived NK cells.

Journal of immunological methods·2026

MAD2B guides chromosome stability in mitosis via the MAD2B-CIP2A signaling axis.

Journal of molecular cell biology·2026

Chromosome movements in meiotic prophase: regulatory mechanisms and biological roles.

Frontiers in cell and developmental biology·2026

Nuclear diversity in Charophyceae revealed by fluorescence staining and its implications for genome size estimation.

Planta·2026

Related Experiment Videos

Familial pericentric inversion of chromosome 1 with a note on reproductive risks

Related Concept Videos

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Mitochondrial Complex I at the Crossroads of NK cell Dysfunction in Glioblastoma.

A Novel Sparse Cellular Labeling System with Tunable Gradients and Long-Term Stability.

Dynamic effects of short-term storage temperature and duration on the transcriptome and functional pathways of umbilical cord blood-derived NK cells.

MAD2B guides chromosome stability in mitosis via the MAD2B-CIP2A signaling axis.

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Related Experiment Videos

Familial pericentric inversion of chromosome 1 with a note on reproductive risks

Abstract:

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