Results 91 to 100 of about 22,286 (215)
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
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf +4 more
wiley +1 more source
Ethical Attitudes of German Specialists in Reproductive Medicine and Legal Regulation of Preimplantation Sex Selection in Germany [PDF]
, 2013 The majority of German specialists in reproductive medicine opposes preimplantation sex selection for nonmedical reasons while recommending preimplantation sex selection for medical reasons, e.g.
Dahl, Edgar
core +1 more source
Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani +5 more
wiley +1 more source
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
core +1 more source
Preimplantation genetic diagnosis
Journal of the Korean Medical Association, 2015 착상 전 유전진단(preimplantation genetic diagnosis)은 유전질환의 위험이 있는 부부에서 유전병에 이환되지 않은 정상적인 태아를 임신하기 위해 시행되는 방법이다. 기존에 는 유전질환이 있는 가계에서 유전병을 피하기 위해서 피 임을 하거나, 임신 후 산전진단을 통해 태아의 유전병 여부 를 진단하여 이환된 경우 임신중절을 고려할 수밖에 없었다. 산전진단은 임신이 된 후 임신 초기 융모막 융모검사나 임 신중기 양수검사를 통해 얻어진 태아세포에서 유전질환이 나 염색체 이상을 진단하는 방법이므로, 유전질환 또는 염 색체 이상을 가진 태아가 진단될 경우 임신중절을 고려하 는 윤리적 문제 및 고통을 겪게 된다 ...
Jin Young Kim +2 more
openaire +1 more source
genesis, Volume 64, Issue 1, February 2026.ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu +10 more
wiley +1 more source
A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome
International Journal of Gynecology &Obstetrics, Volume 172, Issue 2, Page 1258-1260, February 2026.Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci +5 more
wiley +1 more source
The embryo as moral work object: PGD/IVF staff views and experiences [PDF]
, 2008 Copyright @ 2008 the authors. This article is available in accordance with the Creative Commons Deed, Attribution 2.5, see http://creativecommons.org/licenses/by-nc-nd/2.5/deed.en_CA.We report on one aspect of a study that explored the views and ...
Ehrich, K, Farsides, B, Williams, C
core +2 more sources
Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue
Molecular Genetics &Genomic Medicine, Volume 14, Issue 2, February 2026.In this study, we presented the first clinical case report of mosaic Li Fraumeni syndrome eluding germinal tissue. This case highlights the complexity of interpreting mosaic variants in TP53, and the difficulty in relaying cancer and reproductive risk information in the context of mosaic Li Fraumeni syndrome.
Rhianna M. Urban +9 more
wiley +1 more source