Skip to main content

7 Result(s)

within The-Hung Bui Remove this filter

and

  1. No Access

    Article

    Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B

    Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transpor...

    Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran… in Journal of Genetics (2017)

  2. No Access

    Article

    Information Related to Prenatal Genetic Counseling: Interpretation by Adolescents, Effects on Risk Perception and Ethical Implications

    Being raised in the genomic era may not only increase knowledge of available genetic testing but may also have an impact on how genetic information is perceived. However, little is known about how current adol...

    Philippe A. Melas, Susanne Georgsson Öhman, Niklas Juth… in Journal of Genetic Counseling (2012)

  3. No Access

    Article

    More Appreciation of Life or Regretting the Test? Experiences of Living as a Mutation Carrier of Huntington’s Disease

    Little is known about how the knowledge of being a mutation carrier for Huntington’s disease (HD) influences lives, emotionally and socially. In this qualitative study 10 interviews were conducted to explore t...

    Anette Hagberg, The-Hung Bui, Elisabeth Winnberg in Journal of Genetic Counseling (2011)

  4. No Access

    Article

    Depression and Suicidal Ideation After Predictive Testing for Huntington's Disease: A Two-Year Follow-up Study

    The present study reports a two-year follow-up of psychological effects of predictive testing for Huntington's disease. Questionnaires assessing depression, general health, well-being, self injurious behavior,...

    Maria U. Larsson, Mary A. Luszcz, The-Hung Bui… in Journal of Genetic Counseling (2006)

  5. No Access

    Chapter

    Chorion Villus Sampling in the First Trimester

    The main objectives of invasive prenatal diagnosis are to offer prospective parents, who choose to undergo such a procedure, the assurance of having unaffected children when the risk of having a child with a s...

    The-Hung Bui, David T. Y. Liu in Ultrasound and Endoscopic Surgery in Obste… (2003)

  6. No Access

    Article

    Complex genetic counseling and exclusion of duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF)

    A twin pregnancy following in vitro ferilization-embryo transfer coincidentally at risk for the X-linked recessive Duchenne muscular dystrophy is described. Firsttrimester prenatal diagnosis by transabdominal .....

    The-Hung Bui, Maria Anvret, Niklas Dahl… in Journal of Assisted Reproduction and Genet… (1994)

  7. No Access

    Article

    A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique

    A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A ch...

    Zhang Sichong, The-Hung Bui, Isabel Castro, Lennart Iselius… in Human Genetics (1981)