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

A Practical Approach to Difficult-to-Treat Rheumatoid Arthritis.

The American journal of medicine·2026

Chronic Unilateral Leg Swelling After Negative Venous Investigations: Recognizing Secondary Lymphedema in a Patient with Prior Pelvic Surgery.

The American journal of medicine·2026

Inflammation-Associated Cardiovascular Risk Differs According to SSRI Use in Patients with Chronic Kidney Disease.

The American journal of medicine·2026

Pretreatment with P2Y12 inhibitors in Acute and Chronic Coronary Syndromes: for whom, when and how.

The American journal of medicine·2026

Ciprofloxacin and Aortic Aneurysm Rupture: Innocent Bystander or True Culprit?

The American journal of medicine·2026

Consumption of Ultra-Processed Foods and Increased Risks of Prostate Cancer in a Random Sample of United States Adults.

The American journal of medicine·2026

Wilson disease associated with a novel variant in the ATP7B gene.

Frontiers in neurology·2026

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Scientific reports·2026

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Journal of genetics and genomics = Yi chuan xue bao·2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Clinica chimica acta; international journal of clinical chemistry·2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

The Journal of heredity·2026

Related Experiment Videos

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.

A Practical Approach to Difficult-to-Treat Rheumatoid Arthritis.

Chronic Unilateral Leg Swelling After Negative Venous Investigations: Recognizing Secondary Lymphedema in a Patient with Prior Pelvic Surgery.

Inflammation-Associated Cardiovascular Risk Differs According to SSRI Use in Patients with Chronic Kidney Disease.

Pretreatment with P2Y12 inhibitors in Acute and Chronic Coronary Syndromes: for whom, when and how.

Ciprofloxacin and Aortic Aneurysm Rupture: Innocent Bystander or True Culprit?

Consumption of Ultra-Processed Foods and Increased Risks of Prostate Cancer in a Random Sample of United States Adults.

Wilson disease associated with a novel variant in the ATP7B gene.

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

Related Experiment Videos

Prenatal diagnosis of genetic disorders

Related Concept Videos

Related Articles