Cytogenetic studies in seven individuals with an i(Xq) karyotype

Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load.

Journal of psychiatric research·2024

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

Clinical genetics·2015

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

Human reproduction (Oxford, England)·2012

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Dermatology (Basel, Switzerland)·2010

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Journal of medical genetics·2009

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.

The Canadian journal of cardiology·2009

Targeting RASL12 by miR-6791-5p fuels malignant progression in lung adenocarcinoma.

Hereditas·2026

Haplotype-based validation of genomic regions for breeding of new Nordic apples.

Hereditas·2026

miR-335-3p acts as a tumor suppressor in esophageal squamous cell carcinoma and predicts favorable prognosis.

Hereditas·2026

SNP rs7430456 mediated LINC00578 drives triple negative breast cancer through regulating miR-143-5p expression.

Hereditas·2026

BFLF1 gene polymorphisms are associated with increased mortality in patients with EBV-associated diseases.

Hereditas·2026

miR-1-3p, as a novel diagnostic and prognostic biomarker, aggravates pancreatic acinar cell injury in acute pancreatitis by targeting GNPTAB.

Hereditas·2026

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

SANS ankyrin repeats mediate non-classical nuclear import and dictate distinct pathogenic mechanisms.

The FEBS journal·2026

Bone marrow-inspired DLL1-presenting microparticles enhance asymmetric division and maintenance of mouse hematopoietic stem and progenitor cells.

Stem cell reports·2026

Related Experiment Videos

Cytogenetic studies in seven individuals with an i(Xq) karyotype

Related Concept Videos

Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load.

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.

Targeting RASL12 by miR-6791-5p fuels malignant progression in lung adenocarcinoma.

Haplotype-based validation of genomic regions for breeding of new Nordic apples.

miR-335-3p acts as a tumor suppressor in esophageal squamous cell carcinoma and predicts favorable prognosis.

SNP rs7430456 mediated LINC00578 drives triple negative breast cancer through regulating miR-143-5p expression.

BFLF1 gene polymorphisms are associated with increased mortality in patients with EBV-associated diseases.

miR-1-3p, as a novel diagnostic and prognostic biomarker, aggravates pancreatic acinar cell injury in acute pancreatitis by targeting GNPTAB.

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.

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

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

SANS ankyrin repeats mediate non-classical nuclear import and dictate distinct pathogenic mechanisms.

Bone marrow-inspired DLL1-presenting microparticles enhance asymmetric division and maintenance of mouse hematopoietic stem and progenitor cells.

Related Experiment Videos

Cytogenetic studies in seven individuals with an i(Xq) karyotype

Related Concept Videos

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