Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Journal of endocrinological investigation·2009

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

European journal of endocrinology·2007

Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

The Journal of clinical endocrinology and metabolism·2004

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.

Human genetics·2000

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

Human genetics·2000

Identification of the familial cylindromatosis tumour-suppressor gene.

Nature genetics·2000

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Serum Olink proteomics-based exploration of novel predictive biomarkers for necrotizing enterocolitis.

iScience·2026

Factors Associated with Predischarge Morbidity and Mortality in Small for Gestational Age Infants: A Single-Center Retrospective Cohort Study.

medRxiv : the preprint server for health sciences·2026

Ultrasound-guided versus open surgical central venous access in children: A systematic review.

JPEN. Journal of parenteral and enteral nutrition·2026

Trajectories of Pulmonary Function and Dysanapsis after Premature Birth.

Neonatology·2026

Anatomical and clinical characteristics of pediatric endoscopic third ventriculostomy performed with a small-diameter neuroendoscope.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026

Schwachman Diamond-Like Syndrome Due to a Novel Variant of DNAJC21 Gene: A Case Report and Literature Review.

Journal of pediatric hematology/oncology·2026

Related Experiment Videos

Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother

Related Concept Videos

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

Identification of the familial cylindromatosis tumour-suppressor gene.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Serum Olink proteomics-based exploration of novel predictive biomarkers for necrotizing enterocolitis.

Factors Associated with Predischarge Morbidity and Mortality in Small for Gestational Age Infants: A Single-Center Retrospective Cohort Study.

Ultrasound-guided versus open surgical central venous access in children: A systematic review.

Trajectories of Pulmonary Function and Dysanapsis after Premature Birth.

Anatomical and clinical characteristics of pediatric endoscopic third ventriculostomy performed with a small-diameter neuroendoscope.

Schwachman Diamond-Like Syndrome Due to a Novel Variant of DNAJC21 Gene: A Case Report and Literature Review.

Related Experiment Videos

Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother

Related Concept Videos

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