Results 81 to 90 of about 100,096 (312)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Clinical performance of non‐invasive prenatal testing (NIPT) using targeted cell‐free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

, 2015
To evaluate the clinical performance of non-invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell-free DNA ...
Wang, Eric, Sparks, Andrew, Bo. Jacobsson, Musci, Thomas, Kypros Nicolaides, Karen White, Annette Batey, Jacobsson, Bo,, Madhumitha Balanarasimha, Renee Stokowski, Herb Brar, Desiree Hollemon, Nicolaides, Kypros, White, Karen, Thomas J. Musci, Stokowski, Renee, Batey, Annette, Andrew Sparks, Brar, Herb, Eric Wang, Hollemon, Desiree, Balanarasimha, Madhumitha   +21 more
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Prenatal rhesus testing [PDF]

ISBT Science Series, 2010
Background  Prenatal rhesus testing is currently not well standardized. The clinical guidelines and technologies differ between countries and regions.Aims  To facilitate implementation of non‐invasive prenatal diagnosis of the foetal Rh type (NIPD of Rh) from cell free foetal DNA in maternal plasma.
openaire   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Prenatal Screening and Genetics [PDF]

, 2001
Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'.
Alderson, P, Santalahti, P, Tymstra, T, Dragonas T, Aro, AR, Dragonas, T., Santalahti P, Aro, A., Jalinoja, P, Tymstra T, Santalahti, P., Dragonas, T, Tymstra, T., Hemminki, E, Hemminki E, Adam, E., Ettorre, E., Jallinoja P, Tijmstra, T., Hemminki, E., Alderson, Priscilla, Aro, A, Aro, A.R., Jalinoja, P., Ettorre, E, Ettorre E, Aro AR, Alderson, P., Alderson P   +28 more
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“[She] said : ‘take the test’ and I took the test”. Relational work as a framework to approach directiveness in prenatal screening of Chinese clients in Hong Kong [PDF]

, 2013
In this paper we apply the framework of relational work, or the work individuals invest in maintaining their relationships (Locher and Watts 2005), to the analysis of prenatal screening (PS) for Down Syndrome of Chinese clients in Hong Kong.
Schnurr, S, Zayts, Olga, Zayts, OA, Schnurr, Stephanie   +3 more
core   +1 more source

Moral Responsibility in the Context of Prenatal Testing: What can be Expected?

BioéthiqueOnline, 2015
Authors have suggested that considering the ethical and social aspects of prenatal testing could be seen as an individual responsibility for patients, but no conceptual grounds have been provided for this thesis.
Lemoine, Marie-Eve
doaj  

Prenatal Genetic Test

Journal of Genetic Medicine, 2011
유전자 검사는 생명과학의 발달과 더불어 질병 진단 및 연구의 중요한 수단으로 일반화되고있으나, 태아에 대한 유전자 검사는 자기결정권이 없는 태아를 대상으로 하기 때문에 또 다른 윤리적, 사회적 문제가 있을 수 있으므로 특별한 주의를 기울여야 한다. 따라서 태아 유전자 검사를 시행하기 전에 유전 상담이 충분히 이루어져서 부모에게 병의 진단, 자연경과, 가능한 치료를 이해시키며, 질환의 유전방식과 가족의 재발 위험도를 평가하고 그에 따른 가능한 선택을 제시하여 가족들이 질환에 대해 최선의 결정을 할 수 있게 도움을 주어야 한다. 뿐만 아니라 태아 유전자 검사에 대한 현행법의 합리적인 법률 개정도 뒷받침되어야 한다. 【Genetic
You Jung Han, Hyun Mee Ryu
openaire   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]

Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
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