Tetrasomy 18p caused by paternal meiotic nondisjunction

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Der Internist·2018

Molecular and clinical studies in 8 patients with Temple syndrome.

Clinical genetics·2018

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Human genetics·2017

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Clinical genetics·2016

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Human genetics·2016

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Clinical genetics·2016

Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal.

European journal of human genetics : EJHG·2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

European journal of human genetics : EJHG·2026

Rapid genomic sequencing in the NICU: Who to test and why.

European journal of human genetics : EJHG·2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

European journal of human genetics : EJHG·2026

Patients' and parents' views on how digital tools enable personalized and partnered care in genetics: a qualitative study.

European journal of human genetics : EJHG·2026

To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence.

European journal of human genetics : EJHG·2026

Nucleation-dependent propagation of Polycomb modifications emerges during the Drosophila maternal to zygotic transition.

eLife·2026

Epigenetic-proteomic network crosstalk at birth across HLA risk groups in type 1 diabetes.

Frontiers in immunology·2026

Polygenic Risk Scores in Cardiovascular Prevention: Clinical Promise, Implementation Challenges, and Genomic Risk Stewardship.

Cureus·2026

ADAMTS18 as a candidate gene linking social stress and depression: a cross-species study in African wild dogs (Lycaon pictus) and humans.

Frontiers in behavioral neuroscience·2026

DNMT1 as an environmental sensor: epigenetic pathways linking environmental exposures, sex hormone signaling, and vulnerability to neurodevelopmental and neurodegenerative diseases.

Frontiers in neurology·2026

Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome: A Single-Centre Retrospective Case Series of Seven Genetically Confirmed Patients.

Journal of clinical medicine·2026

Related Experiment Videos

Tetrasomy 18p caused by paternal meiotic nondisjunction

Related Concept Videos

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Molecular and clinical studies in 8 patients with Temple syndrome.

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Rapid genomic sequencing in the NICU: Who to test and why.

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Patients' and parents' views on how digital tools enable personalized and partnered care in genetics: a qualitative study.

To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence.

Nucleation-dependent propagation of Polycomb modifications emerges during the Drosophila maternal to zygotic transition.

Epigenetic-proteomic network crosstalk at birth across HLA risk groups in type 1 diabetes.

Polygenic Risk Scores in Cardiovascular Prevention: Clinical Promise, Implementation Challenges, and Genomic Risk Stewardship.

ADAMTS18 as a candidate gene linking social stress and depression: a cross-species study in African wild dogs (Lycaon pictus) and humans.

DNMT1 as an environmental sensor: epigenetic pathways linking environmental exposures, sex hormone signaling, and vulnerability to neurodevelopmental and neurodegenerative diseases.

Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome: A Single-Centre Retrospective Case Series of Seven Genetically Confirmed Patients.

Related Experiment Videos

Tetrasomy 18p caused by paternal meiotic nondisjunction

Related Concept Videos

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