Cytogenetics and somatic cell genetics: the impact of chromosome banding

The new Ghent criteria for Marfan syndrome: what do they change?

Clinical genetics·2011

Chromosomal assignment of three human melanocyte-specific genes.

International journal of oncology·2011

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

American journal of medical genetics. Part A·2009

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European journal of human genetics : EJHG·2008

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Clinical genetics·2008

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Journal of medical genetics·2008

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Sex without crossovers mimics clonal reproduction in Rhynchospora tenuis.

Nature·2026

Transcriptional activity generates chromatin motion that drives nuclear blebbing.

Molecular biology of the cell·2026

Protocol for identifying head direction cells in mice using in vivo extracellular recordings and juxtacellular labeling.

STAR protocols·2026

Parallel analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells.

The Journal of molecular diagnostics : JMD·2026

Unravelling the structure-function features of Ani2, a dual chaperone from Schizosaccharomyces pombe.

International journal of biological macromolecules·2026

Sperm subpopulations differing in mitochondrial abundance show divergent nuclear allele frequencies.

PloS one·2026

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Cytogenetics and somatic cell genetics: the impact of chromosome banding

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The new Ghent criteria for Marfan syndrome: what do they change?

Chromosomal assignment of three human melanocyte-specific genes.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

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Sex without crossovers mimics clonal reproduction in Rhynchospora tenuis.

Transcriptional activity generates chromatin motion that drives nuclear blebbing.

Protocol for identifying head direction cells in mice using in vivo extracellular recordings and juxtacellular labeling.

Parallel analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells.

Unravelling the structure-function features of Ani2, a dual chaperone from Schizosaccharomyces pombe.

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Cytogenetics and somatic cell genetics: the impact of chromosome banding

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