You have accessJournal of UrologyInfertility: Epidemiology & Evaluation I (MP21)1 Sep 2021MP21-04 SUCCESSFUL SPERM RETRIEVAL FOR MEN WITH Y CHROMOSOME AZFC MICRODELETION I-Shen Huang, Wei-Jen Chen, and William J Huang HuangI-Shen More articles by this author , ChenWei-Jen Chen HuangWilliam View All Author Informationhttps://doi.org/10.1097/JU.0000000000002006.04AboutPDF ToolsAdd to favoritesDow...

Genomic disorders involving microdeletions and microduplications have been reported in many individuals with neuropsychiatric disorders such as autism and mental retardation. The recurrent nature of these disorders is often explained by nonallelic homologous recombination (NAHR) mediated by large blocks of highly identical segmental duplications or low copy repeats (LCR). The rapidly growing li...

Detection of human microdeletion and microduplication syndromes poses significant burden on public healthcare systems in developing countries. With genome-wide diagnostic assays frequently inaccessible, targeted low-cost PCR-based approaches are preferred. However, their reproducibility depends on equally efficient amplification using a number of target and control primers. To address this, the...

background: y chromosomal microdeletion is an important genetic disorder, which may arise due to intrachromosomal recombination between homologous sequences in the male specific region of the human y chromosome. it is frequently associated with the quantitative reduction of sperm. the screening for y chromosomal microdeletions has a great clinical value. objective: to develop a sequence tagged ...

While the genetic basis of schizophrenia is increasingly well characterized, novel treatments will require establishing mechanistic relationships between specific risk genes and core phenotypes. Rare, highly penetrant risk genes such as the 22q11.2 microdeletion are promising in this regard. Df(16)A(+/-) mice, which carry a homologous microdeletion, have deficits in hippocampal-prefrontal conne...

2Iq23.1 microdeletion syndrome is a recently described rare disease that includes intellectual disability, motor delay, autistic-like behaviors, and craniofacial abnormalities. Dosage insufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene was suggested as the genetic cause, since all the described patients carry a partial or total heterozygous deletion of MBD5. We reported the gen...

A case is reported in which a high fertilization rate was achieved by conventional in-vitro fertilization (IVF), using spermatozoa from an oligozoospermic man carrying a microdeletion of the long arm of the Y chromosome. The patient presented with idiopathic infertility of 10 years duration; the fertility status of his wife was completely normal. After IVF, five out of eight oocytes retrieved s...

In this research work, we built and ensembled different EGFR microdeletion mutations’ based Artificial Neural Networks(ANNs) for improved diagnosis of Non-Small Cell Lung Cancer(NSCLC). We developed two novel algorithms, namely; Genomic Nucleotide Encoding & Normalization (GNEN) algorithm to encode and normalize the EGFR nucleotides and SimMicrodel algorithm to programmatically simulate microde...

BACKGROUND Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does not encompass PLP1, we implicate a novel gene GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. CASE PRESENTATION We report a female pati...

BACKGROUND Calcitonin-related peptide alpha (CALCA) is a neuropeptide that is a very potent vasodilator. It has been reported that CALCA knockout mice have a significantly elevated systolic blood pressure (BP). The aims of this study were to discover novel polymorphisms or mutations in the 5' flanking region of the human CALCA gene in Japanese subjects and to assess the association between this...