[A brief history of medical genetics]

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Human genetics·2000

Human genes involved in chromatin remodeling in transcription initiation, and associated diseases: An overview using the GENATLAS database.

Molecular genetics and metabolism·1999

Genatlas database, genes and development defects.

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie·1998

The role of the SMN gene in proximal spinal muscular atrophy.

Human molecular genetics·1998

Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

Annals of human genetics·1997

A metric map of humans: 23,500 loci in 850 bands.

Proceedings of the National Academy of Sciences of the United States of America·1996

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

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing.

Annals of medicine and surgery (2012)·2026

RECQL correlates with immune infiltration and serves as a prognostic biomarker and therapeutic predictor in gastric cancer.

Translational cancer research·2026

Decreased H3K79 acetylation and dysregulation of neurodevelopmental genes in fetal down syndrome.

Translational pediatrics·2026

Insulin resistance evaluated by estimated glucose disposal rate and its association with cardiometabolic risk factors among adolescents in Northeast China.

Frontiers in nutrition·2026

Polygenic score for sleep duration in relation to the risk of Alzheimer's disease: results from the UK biobank.

Frontiers in dementia·2026

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[A brief history of medical genetics]

Related Concept Videos

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Human genes involved in chromatin remodeling in transcription initiation, and associated diseases: An overview using the GENATLAS database.

Genatlas database, genes and development defects.

The role of the SMN gene in proximal spinal muscular atrophy.

Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

A metric map of humans: 23,500 loci in 850 bands.

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.

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing.

RECQL correlates with immune infiltration and serves as a prognostic biomarker and therapeutic predictor in gastric cancer.

Decreased H3K79 acetylation and dysregulation of neurodevelopmental genes in fetal down syndrome.

Insulin resistance evaluated by estimated glucose disposal rate and its association with cardiometabolic risk factors among adolescents in Northeast China.

Polygenic score for sleep duration in relation to the risk of Alzheimer's disease: results from the UK biobank.

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[A brief history of medical genetics]

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