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

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

European journal of human genetics : EJHG·2026

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

Chlamydia trachomatis incidence in relation to vaginal microbiota dynamics, immunogenetics and exposures in a cohort of young student women in France.

The Journal of infectious diseases·2026

Exosome-Related Pathogenic Genes in Adenomyosis: A Multi-Omics Mendelian Randomization Study.

Omics : a journal of integrative biology·2026

Cognitive performance and neuroimaging markers across the glycemic spectrum in multiethnic Asian older adults.

Journal of internal medicine·2026

Early pregnancy fasting plasma glucose and risk factors: impact on gestational diabetes mellitus and other adverse perinatal outcomes in singleton and twin pregnancies.

Frontiers in medicine·2026

Integrative analysis of gut microbiota, plasma metabolome, and gene expression identifies causal mediators in Graves' disease pathogenesis.

Frontiers in microbiology·2026

A single-cell transcriptomic atlas of the periventricular proliferative zone in the late gestation fetal brain in the pigtail macaque.

Frontiers in neuroscience·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.

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

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.

Chlamydia trachomatis incidence in relation to vaginal microbiota dynamics, immunogenetics and exposures in a cohort of young student women in France.

Exosome-Related Pathogenic Genes in Adenomyosis: A Multi-Omics Mendelian Randomization Study.

Cognitive performance and neuroimaging markers across the glycemic spectrum in multiethnic Asian older adults.

Early pregnancy fasting plasma glucose and risk factors: impact on gestational diabetes mellitus and other adverse perinatal outcomes in singleton and twin pregnancies.

Integrative analysis of gut microbiota, plasma metabolome, and gene expression identifies causal mediators in Graves' disease pathogenesis.

A single-cell transcriptomic atlas of the periventricular proliferative zone in the late gestation fetal brain in the pigtail macaque.

Related Experiment Videos

Tetrasomy 18p caused by paternal meiotic nondisjunction

Related Concept Videos

Related Articles