Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.

Oncogene·2006

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Journal of medical genetics·2006

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Journal of medical genetics·2005

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

American journal of human genetics·2001

Oncogenic mutants of RON and MET receptor tyrosine kinases cause activation of the beta-catenin pathway.

Molecular and cellular biology·2001

The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3 is involved in kidney tumorigenesis.

Proceedings of the National Academy of Sciences of the United States of America·2001

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics·2026

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Prenatal diagnosis·2026

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.

Psychiatric genetics·2026

HMGA2 is a highly sensitive marker for DICER1-related tumours.

Histopathology·2026

Alzheimer's Disease DNA Methylation Index (AD-DMI) and its Association with Late-Life Cognitive Function.

NPJ dementia·2026

Correction: Generation and characterization of germline-specific autophagy and mitochondrial reactive oxygen species reporters in Drosophila.

Frontiers in cell and developmental biology·2026

Circadian Regulation of Glucose Metabolism: Implications for Pathogenesis and Chronotherapy of Type 2 Diabetes.

Diabetology·2026

Related Experiment Videos

Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359

Related Concept Videos

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

Oncogenic mutants of RON and MET receptor tyrosine kinases cause activation of the beta-catenin pathway.

The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3 is involved in kidney tumorigenesis.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.

HMGA2 is a highly sensitive marker for DICER1-related tumours.

Alzheimer's Disease DNA Methylation Index (AD-DMI) and its Association with Late-Life Cognitive Function.

Correction: Generation and characterization of germline-specific autophagy and mitochondrial reactive oxygen species reporters in Drosophila.

Circadian Regulation of Glucose Metabolism: Implications for Pathogenesis and Chronotherapy of Type 2 Diabetes.

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Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359

Related Concept Videos

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