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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic renal diseases, which may cause oligoasthenospermia and azoospermia and result in male infertility. This study aimed to analyze the outcomes of preimplantation genetic diagnosis (PGD) in male patients with ADPKD-induced infertility.
This article was published in the following journal.
Name: Zhonghua nan ke xue = National journal of andrology
To examine the state-wide utilization of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT-M) for single gene disorders.
To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic t...
Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer scre...
Congenital cataract, opacification of the ocular lens, is clinically and genetically a heterogeneous childhood disease. In this study we aimed to identify the underlying genetic cause of isolated auto...
It is known that PRPH2 variants appear to be rare causes of retinitis pigmentosa (RP) in the Japanese population. The purpose of this study was to describe clinical and genetic features in autosomal d...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease in humans. ADPKD may affect all the generations of the ADPKD family and the prob...
Genkyst is a regional cohort involving up to nephrologists working in private and public nephrology centers in the West of France. It registers clinical and molecular genetic data of all c...
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (I...
Preimplantation genetic diagnosis (PGD) is the integration of both assisted reproductive technologies and molecular genetic technologies and was shown to improve implantation rate and redu...
The investigators previously developed approaches to SNP-, CNV- and haplo-type single human cells (Vanneste et al. 2009, Nature Medicine). These methods open the possibility to be develope...
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
Determination of the nature of a pathological condition or disease in the ovum, zygote, or blastocyst prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNEL beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNEL subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.
An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.
Nephrology - kidney function
Nephrology is a specialty of medicine and pediatrics that concerns itself with the study of normal kidney function, kidney problems, the treatment of kidney problems and renal replacement therapy (dialysis and kidney transplantation). Systemic conditions...