Results 91 to 100 of about 34,383 (273)
Genetic testing in Marfan syndrome [PDF]
, 2016 Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core +1 more source
Periodontology 2000, EarlyView.Abstract Background The primary goal of periodontology is to prevent tooth loss and reduce the risk of focal infections. Periodontitis lesions can harbor hundreds of thousands of active cytomegaloviruses (virions), which can easily enter the systemic circulation and potentially infect the fetus of a mother with compromised immunity.
Jørgen Slots
wiley +1 more source
Medical Journal of Australia, EarlyView.Abstract Introduction Monogenic diabetes accounts for 2–5% of diabetes. Although its identification has substantial therapeutic implications, more than 80% of affected individuals are undiagnosed or misdiagnosed as having type 1 or 2 diabetes. This consensus statement reviews genetic testing for monogenic diabetes in adults and provides evidence‐based ...
Sunita MC De Sousa +10 more
wiley +1 more source
Ductus Venosus Doppler Flow Velocity after Transplacental and Non-transplacental Amniocentesis during Midtrimester [PDF]
, 1969 Burcu Artunç Ülkümen +3 more
openalex +1 more source
Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.Abstract Individuals who carry a genetic variant for a genetic disease can access reproductive genetic testing in order to prevent the transmission of the gene variant to their children. This systematic review aimed to synthesize the findings from both qualitative and quantitative literature to understand these individuals' attitudes toward pre ...
Shanice Allen +4 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: We present prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis with a favorable outcome. Case report: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen +6 more
doaj
Human sex ratio at amniocentesis and at birth in Taiwan
Taiwanese Journal of Obstetrics & Gynecology, 2012 Objectives: An increase in the proportion of male-to-female live births has raised concerns in Taiwan. Disclosure of fetal sex during prenatal screening is not allowed by the Taiwan government.
I-Wen Lee +3 more
doaj +1 more source
Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]
, 2006 Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko +5 more
core +1 more source
Pregnancy and delivery outcomes in individuals with RUNX1‐Familial Platelet Disorder
British Journal of Haematology, EarlyView.
Natalie T. Deuitch +8 more
wiley +1 more source