Current concepts in genetics. Prenatal diagnosis of genetic disorders

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Catheter-Directed Thrombolysis in Intermediate-High-Risk Pulmonary Embolism.

The New England journal of medicine·2026

Timing of PCI in Patients Undergoing Transcatheter Aortic-Valve Implantation.

The New England journal of medicine·2026

Pulmonary Denervation for Heart Failure-Related Pulmonary Hypertension.

The New England journal of medicine·2026

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

Frontiers in cardiovascular medicine·2026

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

BMC genomics·2026

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Lipids·2026

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Molecular psychiatry·2026

Different properties of loss-of-function between variants in the LIPH gene responsible for autosomal recessive woolly hair and further characterization of C3orf52.

Journal of dermatological science·2026

Genetic Dissection of Wheat Heterosis Identifies Candidate Genes in Biparental and Diverse Hybrid Populations.

Plant biotechnology journal·2026

Related Experiment Videos

Current concepts in genetics. Prenatal diagnosis of genetic disorders

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Catheter-Directed Thrombolysis in Intermediate-High-Risk Pulmonary Embolism.

Timing of PCI in Patients Undergoing Transcatheter Aortic-Valve Implantation.

Pulmonary Denervation for Heart Failure-Related Pulmonary Hypertension.

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Different properties of loss-of-function between variants in the LIPH gene responsible for autosomal recessive woolly hair and further characterization of C3orf52.

Genetic Dissection of Wheat Heterosis Identifies Candidate Genes in Biparental and Diverse Hybrid Populations.

Related Experiment Videos

Current concepts in genetics. Prenatal diagnosis of genetic disorders

Related Concept Videos

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