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Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

facial skin lesions at birth typically present as multiple, round, or oval-shaped, and vesicular, in the preauricular region along the developmental fusion line of Beom Hee Lee and Fanny Morice-Picard

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells

Introduction Bone abnormalities, one of the primary manifestations of Menkes disease (MD), include a weakened bone matrix and low mineral density. However, the molecular and cellular mechanisms underlying these bone defects are poorly understood. Methods We present in vitro modeling for impaired osteogenesis in MD using human induced pluripotent stem cells (iPSCs) with a mutated...

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells

Bone abnormalities, one of the primary manifestations of Menkes disease (MD), include a weakened bone matrix and low mineral density. However, the molecular and cellular mechanisms underlying these bone defects are poorly understood. We present in vitro modeling for impaired osteogenesis in MD using human induced pluripotent stem cells (iPSCs) with a mutated ATP7A gene. MD-iPSC...

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome

Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith–Wiedemann syndrome (BWS) and the Silver–Russell syndrome (SRS...

Low prevalence of classical galactosemia in Korean population

This study described the clinical and molecular genetic features of classical galactosemia in Korean population to contribute to the insight in the spectrum of galactosemia in the world, as little is known about the spectrum and incidence of galactosemia in Asia. During the 11-year study period, only three Korean children were identified as having classical galactosemia on the...

Genetic basis of Bartter syndrome in Korea

Background. Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V).

Atypical Hemolytic Uremic Syndrome Associated With Complement Factor H Autoantibodies and CFHR1/CFHR3 Deficiency

75015, FranceMarie-Agnès Dragon-Durey AuthorsSearch for Beom Hee Lee in:Nature Research journals • PubMed • Google ScholarSearch for Soo Heon Kwak in:Nature Research journals • PubMed • Google

The Incidence of Tuberculosis after a Measles Outbreak

Among 53,974 cases of measles that occurred during the 2000–2001 outbreak in Korea, the incidence of tuberculosis following measles was 47 cases per 214,949.6 person-years, which was significantly lower than that in the general population (standardized incidence ratio, 0.73; 95% confidence interval, 0.54–0.96). In conclusion, we did not find a positive relationship between...