Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers. [PDF]
PLoS ONE, 2014 Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis.
Laia Ramos +12 more
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To Be or not to Be? A Critical Appraisal of the Welfare of Children Conceived through New Reproductive Technologies [PDF]
, 2008 Over three million children are believed to have been born worldwide - and over 200,000 annually - as a result of “new reproductive technologies” (NRTs).
Blyth, Eric
core +1 more source
An Australian standard of care for Niemann–Pick disease type C
Internal Medicine Journal, EarlyView.Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan +23 more
wiley +1 more source
Preimplantation genetic diagnosis
Obstetrics, Gynaecology & Reproductive Medicine, 2014 Abstract Since its introduction in 1990, preimplantation genetic diagnosis (PGD) has allowed embryo genetic analysis prior to transfer into the uterus during an in vitro fertilisation (IVF) cycle. The commonest indications are for detection of single-gene, X-linked, structural chromosomal and mitochondrial disorders as well as for Human Leucocyte ...
Traeger-Synodinos, J., Staessen, C.
openaire +3 more sources
Preimplantation genetic diagnosis: International standards and the law of the republic of Serbia [PDF]
Zbornik Radova: Pravni Fakultet u Novom Sadu, 2014 The process of biomedical assisted reproduction, in addition to the treatment of infertility, also can be implemented for the purpose of prevention of transmission of serious hereditary disease to offspring. This is possible thanks to the preimplantation
Rajić Nataša
doaj +1 more source
Embryos as Patients? Medical Provider Duties in the Age of CRISPR/Cas9 [PDF]
, 2017 The CRISPR/Cas9 genome engineering platform is the first method of gene editing that could potentially be used to treat genetic disorders in human embryos. No past therapies, genetic or otherwise, have been intended or used to treat disorders in existent
Powell, G. Edward, III
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The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Annals of Saudi Medicine, 2014 BACKGROUND AND OBJECTIVES: The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown, and data on molecular etiology of this condition is limited.
Sarar Mohamed +4 more
doaj +1 more source
Reproductive Wastage in Recurrent Partial Hydatidiform Mole: A Clinical Dilemma. [PDF]
, 2013 Recurrent partial Hydatidiform mole is an extremely rare clinical entity which represent a part of the gestational trophoblatic neoplasia spectrum. Since the first case was reported by Honore.
Ashmita, D +3 more
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Provision and Quality Assurance of Preimplantation Genetic Diagnosis in Europe [PDF]
, 2008 Preimplantation genetic diagnosis (PGD) is now well established and provided in many European countries. However, regulations, professional standards and accreditation requirements can differ notably.
IBARRETA RUIZ DOLORES, ZIKA Eleni
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