Zobrazeno 1 - 10
of 1 155
pro vyhledávání: '"genetic etiology"'
Publikováno v:
Biological Research, Vol 57, Iss 1, Pp 1-17 (2024)
Abstract Background Müllerian duct anomalies (MDAs) are congenital developmental disorders that present as a series of abnormalities within the reproductive tracts of females. Genetic factors are linked to MDAs and recent advancements in whole-exome
Externí odkaz:
https://doaj.org/article/3121fca16f0b4e92b7975d7645870a16
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinicians more confusions to
Externí odkaz:
https://doaj.org/article/0bedbde337d7439abecacc145a8e2ba5
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundShort stature is one of the most prevalent endocrine disorders in children, and its genetic basis is a complex and actively researched subject. Currently, there is limited genetic research on exome sequencing for short stature, and more lar
Externí odkaz:
https://doaj.org/article/2febfa1a7b344408a8efdde2a3fe4946
Autor:
Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
Abstract Background Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly increasing prevalence. To the best of our knowledge, no data exists on the genetic architecture of ASD in India. This study aimed to identify the gen
Externí odkaz:
https://doaj.org/article/0a811d51a4c7480ba1bd9d0625f615fe
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Here, we aim to present
Externí odkaz:
https://doaj.org/article/211f274424fa4140b4c7a7e7e172c5c2
Publikováno v:
Open Life Sciences, Vol 19, Iss 1, Pp 113659-11 (2024)
A comprehensive survey was carried out to investigate the genetic etiology of short stature in children by whole exon sequencing of a core family cohort to find and study mutations in multiple genes to assess their potential correlations to low heigh
Externí odkaz:
https://doaj.org/article/64d223b47d2c42dca53cb4188bf80c8e
Publikováno v:
陆军军医大学学报, Vol 45, Iss 9, Pp 869-875 (2023)
Spermatogenic failure is a severe disease in male infertility, with high clinical incidence, and seriously affects the reproductive health and population security. However, due to its significant clinical heterogeneity and genetic heterogeneity, ther
Externí odkaz:
https://doaj.org/article/3c4451bce8d34b4eb2dafd6500ac3250
Autor:
Vivian van Wijngaarden, Hester de Wilde, Dieuwke Mink van der Molen, Jildo Petter, Inge Stegeman, Ellen Gerrits, Adriana L. Smit, Marie-José van den Boogaard
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionDevelopmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of pathogenic variants or chromosomal anomalies possibly related to DLD have bee
Externí odkaz:
https://doaj.org/article/abcf70782fa448ffa49d03526a8b747b
Publikováno v:
Российский кардиологический журнал, Vol 28, Iss 10 (2023)
Wolff-Parkinson-White syndrome (WPW) is a syndrome with early ventricular excitation due to the abnormal electrical conduction through an accessory atrioventricular pathway, and is usually accompanied by supraventricular tachycardia. There is a prove
Externí odkaz:
https://doaj.org/article/ba42f60c5d0b458f9657b0e430ce8093
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Congenital auditory impairment is a prevalent anomaly observed in approximately 2–3 per 1,000 infants. The consequences associated with hearing loss among children encompass the decline of verbal communication, linguistic skills, educational progre
Externí odkaz:
https://doaj.org/article/bb7d3ff2acbf493d8a7e64593a67510c