1.Diverse Phenotypes of Cis-AB Blood Group and Transfusion Strategy.
Min Seung PARK ; Sejong CHUN ; Chun Hee LEE ; Duck CHO
Korean Journal of Blood Transfusion 2016;27(3):304-306
No abstract available.
Phenotype*
2.Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.
Hae Yeon PARK ; Myungshin KIM ; Woori JANG ; Dae Hyun JANG
Annals of Laboratory Medicine 2017;37(6):563-565
No abstract available.
Humans
;
Phenotype*
3.A case of Ay phenotype family.
Sang Gyung KIM ; Think You KIM ; Choon Won KIM
Korean Journal of Clinical Pathology 1991;11(1):221-224
No abstract available.
Humans
;
Phenotype*
4.Effects of Alginate Culture on Viability, Proliferation, and Phenotype of Canine Articular Chondrocytes.
Hyeong Geun PARK ; Jeong Im WOO ; So Ra PARK ; Han Jo LIM ; Byoung Hyun MIN
Journal of Korean Orthopaedic Research Society 2001;4(1):24-31
No Abstract Available.
Chondrocytes*
;
Phenotype*
5.Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?.
Hassan DASTSOOZ ; Mohsen ALIPOUR ; Sanaz MOHAMMADI ; Fatemeh DEHGHANIAN ; Fatemeh KAMGARPOUR ; Majid FARDAEI
Blood Research 2017;52(4):332-334
No abstract available.
Phenotype*
;
Thalassemia*
6.Kidd Phenotypes in Multiple Ethnicities in Hospital Umum Sarawak, Malaysia
Malaysian Journal of Medicine and Health Sciences 2018;14(Supplement 1):23-27
Introduction: Kidd blood group system is distributed differently within populations. In Malaysia, the prevalence of Kidd phenotypes have been reported but not in Hospital Umum Sarawak (HUS).We characterised Kidd phenotypes among regular blood donors in HUS. Methods: A cross-sectional study was done from 1st September 2015 to 10th September 2015. Blood samples were collected from 250 regular blood donors of different ethnicities in HUS. Samples were then investigated for Kidd blood group phenotypes by utilising Seraclon anti-Jka and anti-Jkb reagents employing the Diamed-ID gel card system. Results: Phenotype Jk(a+b+) was found in 110 out of 250 (44.0%) and phenotype Jk (a-b-) phenotype in seven out of 250 (2.8%) blood donors. Jk(a+b-) was detected in 60 out of 250 (24.0%) and Jk(a-b+) in 73 out of 250 (29.2%) donors. Kidd phenotype was detected in four ethnics; Chinese 50.8%, Malays 38.4%, Bidayuh 10.0% and Iban 0.8%. Jk(a-b-) phenotype was present only in the Malays; seven out of 250 (2.8%) but not found in other ethnicities. Conclusion: Jk(a+b+) is the most common Kidd phenotype found in regular blood donors in HUS in the four ethnicities studied. Only Malays exhibit the Jk(a-b-) phenotype which is a rare phenotype. The results of this study may serve as a preliminary database for Kidd blood group profile of regular blood donors in HUS.
;
Kidd phenotype
7.Is a Longitudinal Trajectory Helpful in Identifying Phenotypes in Asthma?.
Allergy, Asthma & Immunology Research 2018;10(6):571-574
No abstract available.
Asthma*
;
Phenotype*
8.Phenotypic variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians
Achmad Zulfa Juniarto ; Maria Ulfah ; Mahayu Dewi Ariani ; Agustini Utari ; Sultana MH Faradz
Journal of the ASEAN Federation of Endocrine Societies 2018;33(1):6-11
Objectives:
To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia(CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization.
Methodology:
Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types.
Results:
The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development(Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14),prominentAdam’s apple (9) and hirsutism (4) were found only in SV types Rapid growth (7) and precocious puberty (8)were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization(r=0.19, p>0.05).
Conclusion
Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skinhyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty withregard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlationbetween 17-OHP levels with the degree of virilization in CAH females
Phenotype
;
Virilism
9.MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant.
In Pyo BAEK ; Yong Bok JEONG ; Seung Hyun JUNG ; Yeun Jun CHUNG
Genomics & Informatics 2014;12(4):289-292
Next-generation sequencing (NGS) is widely used to identify the causative mutations underlying diverse human diseases, including cancers, which can be useful for discovering the diagnostic and therapeutic targets. Currently, a number of single-nucleotide variant (SNV)-calling algorithms are available; however, there is no tool for visualizing the recurrent and phenotype-specific mutations for general researchers. In this study, in order to support defining the recurrent mutations or phenotype-specific mutations from NGS data of a group of cancers with diverse phenotypes, we aimed to develop a user-friendly tool, named mutation arranger for defining phenotype-related SNV (MAP). MAP is a user-friendly program with multiple functions that supports the determination of recurrent or phenotype-specific mutations and provides graphic illustration images to the users. Its operation environment, the Microsoft Windows environment, enables more researchers who cannot operate Linux to define clinically meaningful mutations with NGS data from cancer cohorts.
Cohort Studies
;
Humans
;
Phenotype
10.KRDD: Korean Rice Ds-tagging Lines Database for Rice (Oryza sativa L. Dongjin).
Chang Kug KIM ; Myung Chul LEE ; Byung Ohg AHN ; Doh Won YUN ; Ung Han YOON ; Seok Cheol SUH ; Moo Young EUN ; Jang Ho HAHN
Genomics & Informatics 2008;6(2):64-67
The Korean Rice Ds-tagging lines Database (KRDD) is designed to provide information about Ac/Ds insertion lines and activation tagging lines using japonica rice. This database has provided information on 18,158 Ds lines, which includes the ID, description, photo image, sequence information, and gene characteristics. The KRDD is visualized using a web-based graphical view, and anonymous users can query and browse the data using the search function. It has four major menus of web pages: (i) a Blast Search menu of a mutant line; Blast from rice Ds-tagging mutant lines; (ii) a primer design tool to identify genotypes of Ds insertion lines; (iii) a Phenotype menu for Ds lines, searching by identification name and phenotype characteristics; and (iv) a Management menu for Ds lines.
Anonyms and Pseudonyms
;
Genotype
;
Phenotype