Attitudes Towards and Prevalence of Son Preference and Sex Selection in South Asian American Communities in the United States [PDF]
, 2012 This report summarizes research conducted by Generations Ahead, a social justice non-profit in the United States, within the South Asian American community.
Sujatha Jesudason
core
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
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
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects. [PDF]
Mol Genet Genomic Med, 2022 Cui X +5 more
europepmc +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
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues [PDF]
, 2006 The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics ...
ANASTASIADOU V +18 more
core +1 more source
Preimplantation diagnosis for immunodeficiencies
Reproductive BioMedicine Online, 2007 Preimplantation genetic diagnosis (PGD) has become an established procedure for the detection of single gene disorders, and has recently been performed together with human leukocyte antigen (HLA) typing for couples with children affected by genetic disorders that require HLA-identical stem cell transplantation therapy. For these couples, PGD can ensure
Yury, Verlinsky +7 more
openaire +2 more sources
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
Preimplantation Genetic Diagnosis in Marfan Syndrome
Case Reports in Obstetrics and Gynecology, 2013 Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection.
N. F. Vlahos +4 more
doaj +1 more source
Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation [PDF]
Journal of Clinical and Diagnostic ResearchHereditary diseases are disorders that mainly result from mutations or changes in Deoxyribonulciec Acid (DNA), Ribonucleic Acid (RNA), or chromosomes, which impact the overall and physical welfare of an individual.
Shreya Singh +3 more
doaj +1 more source