Joonhong Park
Biographic Data
| ID | 7571523 |
|---|---|
| NAME | Joonhong Park |
| GIVEN NAMES | Joonhong |
| FAMILY NAME | Park |
| SIGNATURE | PARK J |
| AFFILIATIONS | Yonsei University |
| ORCID | 0000-0001-7354-4234 |
| VERIFIED | Yes |
| TOTAL WORKS | 3 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 3 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2020 |
| LATEST PUBLICATION YEAR | 2021 |
| H-INDEX | 0 |
Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1
The 15q duplication syndrome (dup15q) is due to the presence of at least one additional derived copy of the Prader-Willi syndrome/Angelman syndrome (PWS/AS) critical region that is approximately 5 Mb long within chromosome 15q11.2-q13.1. This report describes distinct roles of the origin of interstitial (int) dup15q underlining the critical importance of maternally active imprinted genes in the contribution to complete penetrance but different ph…
Emission inventory of PM10 in Dhanbad/Jharia coalfield (JCF), India
Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4
Febrile seizure (FS) is related to a febrile illness (temperature > 38 °C) not caused by an infection of central nervous system, without neurologic deficits in children aged 6-60 months. The family study implied a polygenic model in the families of proband(s) with single FS, however in families with repeated FS, inheritance was matched to autosomal dominance with reduced disease penetrance. A 20 month-old girl showed recurrent FS and afebrile sei…
No prominent works on this page.
Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4
Febrile seizure (FS) is related to a febrile illness (temperature > 38 °C) not caused by an infection of central nervous system, without neurologic deficits in children aged 6-60 months. The family study implied a polygenic model in the families of proband(s) with single FS, however in families with repeated FS, inheritance was matched to autosomal dominance with reduced disease penetrance. A 20 month-old girl showed recurrent FS and afebrile sei…
Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1
The 15q duplication syndrome (dup15q) is due to the presence of at least one additional derived copy of the Prader-Willi syndrome/Angelman syndrome (PWS/AS) critical region that is approximately 5 Mb long within chromosome 15q11.2-q13.1. This report describes distinct roles of the origin of interstitial (int) dup15q underlining the critical importance of maternally active imprinted genes in the contribution to complete penetrance but different ph…
Emission inventory of PM10 in Dhanbad/Jharia coalfield (JCF), India
Biology (2 works) · Gene (2 works) · Genetics (2 works) · Genetics and Neurodevelopmental Disorders (2 works) · Medicine (2 works) · Mutation (2 works) · Penetrance (2 works) · Phenotype (2 works) · Proband (2 works) · Psychiatry (2 works)