Results 51 to 60 of about 5,754 (180)

Bi‐level capacity planning for park IES considering energy supply reliability

open access: yesEnergy Conversion and Economics, EarlyView.
Abstract Carbon emissions and energy consumption of urban buildings represent a notable fraction of global energy utilization. In pursuit of the “carbon peaking and carbon neutrality” goals, urban park building integrated energy system (IES) energy saving technology is regarded as a key technology to achieve sustainable urban development.
Chenxi Wu   +5 more
wiley   +1 more source

Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms

open access: yesOrphanet Journal of Rare Diseases, 2023
Background Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase chain reaction (PCR)-based directed mutation detection combined with linkage analysis of short tandem ...
Dongjia Chen   +14 more
doaj   +1 more source

Reproductive Challenges of the Ageing Female: A Comprehensive Narrative Review

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Changes in societal norms over the last few decades have resulted in novel family planning trends, notably delayed childbearing and increased maternal age at the birth of the first child. Despite advances in reproductive medicine, ageing poses significant challenges.
Sofia Bitzika   +6 more
wiley   +1 more source

Fertility preservation and assisted reproductive strategies in endometrial cancer patients with lynch syndrome

open access: yesFrontiers in Oncology
Patients with LS-EC can be treated with progestin-based fertility-sparing treatment under close monitoring, and pregnancy is recommended as soon as possible after complete remission (CR) of the disease, with assisted reproduction, supplemented by PGT-M ...
Junhan Liu   +5 more
doaj   +1 more source

First record of the forensically important genus Protopiophila Duda (Diptera: Piophilidae) from South Korea and an integrative framework for forensic identification

open access: yesJournal of Forensic Sciences, EarlyView.
Abstract The family Piophilidae is of significant forensic importance due to its association with late‐stage decomposition; however, the Korean piophilid fauna remains poorly studied, lacking comprehensive morphological and molecular data. This study reports the first record of the genus Protopiophila Duda from South Korea.
Sangjin Han   +3 more
wiley   +1 more source

The first report of a successful birth by preimplantation genetic testing for leukodystrophy induced by IBA57 gene

open access: yesTaiwanese Journal of Obstetrics & Gynecology
Objective: Leukodystrophies are a group of heterogeneous disorders affecting the white matter, resulting from various genetic defects. Multiple recessive mutations in the IBA57 gene, which codes for a protein involved in the final stages of the ...
Juan Wang   +3 more
doaj   +1 more source

A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation

open access: yesBMC Genomics, 2023
The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development and end-stage renal disease. Preimplantation genetic testing for monogenic disease (PGT-M) has emerged as
Cuiting Peng   +10 more
doaj   +1 more source

Spontaneous miscarriage after intracytoplasmic sperm injection with frozen sperm of patients with testicular germ cell tumour

open access: yesBJU International, EarlyView.
Objective To clarify the impact of chromosomal aberrations on the offspring of patients with testicular germ cell tumour (TGCT) by evaluating the outcomes of intracytoplasmic sperm injection (ICSI). Patients and Methods Under the ethical review of Yokohama City University, 12 patients with TGCT and 25 with non‐TGCT cancer who had cryopreserved sperm ...
Haru Hamada   +21 more
wiley   +1 more source

Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing

open access: yesBMC Medical Genomics
Objective Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validate the test performance during the ...
Weihua Zhao   +11 more
doaj   +1 more source

A Novel Methodology to Recalibrate Pathogenic Range of SCA36 Repeat Expansions for PGT-M

open access: yes
Abstract Background Spinocerebellar ataxia-36 (SCA36) is an inherited neurodegenerative disorder caused by the heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene on chromosome 20p13. Unaffected individuals typically carry 3 to 14 repeats, whereas affected individuals
Liu F, Huang W, Liao L, Yang J.
europepmc   +2 more sources

Home - About - Disclaimer - Privacy