Results 61 to 70 of about 379,249 (335)
A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders. [PDF]
PLoS ONE, 2010 For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture.
Anthony J Deo +4 more
doaj +1 more source
Chromosomal disorders and male infertility [PDF]
Asian Journal of Andrology, 2011 Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L. +1 more
openaire +3 more sources
FEBS Open Bio, EarlyView.Skin biopsies taken from a patient with an ultra‐rare disorder as well as controls were cultured for up to 473 days. The chunks of skin were serially transferred to a new culture plate when confluent with fibroblasts. Different generations of fibroblasts were analyzed for cell and molecular properties, proliferation, and competence for reprogramming to
Sudiksha Rathan‐Kumar +3 more
wiley +1 more source
Pre-implantation Genetic Testing for Aneuploidy (PGT-A)
Thai Journal of Obstetrics and Gynaecology, 2020 Preimplantation genetic diagnosis (PGD) or embryo selection was first performed in 1989 using PCR for gender selection to avoid X-linked recessive disorder. However, there was a misdiagnosis due to allele drop out (ADO). Therefore, fluorescent in situ
Wirawit Piyamongkol
doaj +1 more source
Reports, 2023 The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction.
Federica Saia +4 more
doaj +1 more source
Naked cuticle is essential for Drosophila wing development beyond Wingless signaling
FEBS Open Bio, EarlyView.Naked cuticle (Nkd), a Wnt signaling inhibitor, assumes extensive roles in Drosophila wing development. Overexpressing Nkd causes smaller, crumpled wings, while also perturbing multiple signaling pathways and developmental genes. A specific region (R1S) is critical for Nkd's function as a signaling integrator, offering new insights for studying its ...
Rui Wang, Ping Wang
wiley +1 more source
Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core +1 more source
Актуальні проблеми сучасної медицини, 2019 The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries.
Olena Fedota, Iurii Sadovnychenko, Mykola Hryshchenko, Kostiantyn Tyshchenko, Yana Hryshchenko
doaj
Case Reports in Endocrinology, 2013 Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD.
Lei Zhang +4 more
doaj +1 more source
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13
Neurobiology of Disease, 2010 Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an epigenetic process by which genes are expressed in a parent-of-origin specific manner.
Stormy J. Chamberlain, Marc Lalande
doaj +1 more source