Results 81 to 90 of about 38,783 (308)

Mosaics and moles [PDF]

open access: yesEuropean Journal of Human Genetics, 2011
Hydatidiform mole (HM) is an abnormal human pregnancy, where the placenta presents with vesicular swelling of the chorionic villi. A fetus is either not present, or malformed and not viable. Most moles are diploid androgenetic as if one spermatozoon fertilized an empty oocyte, or triploid with one maternal and two paternal chromosome sets as if two ...
Sunde, Lone; id_orcid 0000-0002-8479-165X   +6 more
openaire   +3 more sources

Prenatal Diagnosis of Mosaic Trisomy 8: Clinical Report and Literature Review

open access: yes, 2012
Objective: To present prenatal diagnosis of mosaic trisomy 8 and to review the literature. Materials, Methods and Results: A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age.
陳持平;陳明;潘怡如;蘇怡寧;陳樹人;蔡輔仁;王偉信   +1 more
core   +1 more source

Resolving the Cu(bdc) Conundrum: Identifying Non‐Porous Packing of Prototypical Coordination‐Network Thin Films Combining Advanced Diffraction Techniques and Computational Modelling

open access: yesAdvanced Functional Materials, EarlyView.
Solution‐processed Cu(bdc) forms prototypical MOF thin films for which a multitude of not fully satisfactory structural models have been suggested. Combining rotating grazing‐incidence diffraction and X‐ray reflectivity on two complementary samples with density‐functional theory, we first discard the previously suggested models and then identify a non ...
Narges Taghizade   +7 more
wiley   +1 more source

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

open access: yesJournal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü   +8 more
doaj   +1 more source

Management of prenatally detected trisomy 8 mosaicism

open access: yes, 2001
We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi (n=6), amniotic fluid (AF) cells (n=2) or fetal blood (FB) lymphocytes (n=1).
van Haelst, M M   +3 more
core   +1 more source

Opportunities of Semiconducting Oxide Nanostructures as Advanced Luminescent Materials in Photonics

open access: yesAdvanced Materials, EarlyView.
The review discusses the challenges of wide and ultrawide bandgap semiconducting oxides as a suitable material platform for photonics. They offer great versatility in terms of tuning microstructure, native defects, doping, anisotropy, and micro‐ and nano‐structuring. The review focuses on their light emission, light‐confinement in optical cavities, and
Ana Cremades   +7 more
wiley   +1 more source

Spectrum of Various Mosaicism Types According to Female Age: An Analysis of 36,506 Blastocysts Using Preimplantation Genetic Testing for Aneuploidy

open access: yesBiomedicines
Background/Objectives: Mosaicism in preimplantation embryos has important implications for embryo selection and reproductive outcomes. This study investigates the age-related frequency of mosaicism, analyzes its subtypes, and evaluates its clinical ...
Min Seo Jeon   +9 more
doaj   +1 more source

Trisomy 4 mosaicism: Delineation of the phenotype

open access: yes, 2016
Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients.
Vansenne, Fleur   +13 more
core   +1 more source

Enhancing Performance and Reliability of Hf1‐xZrxO2 Morphotropic Phase Boundary Films via Nanolaminate Structuring and Microwave Annealing

open access: yesAdvanced Materials Technologies, EarlyView.
Hf–Zr–O‐based morphotropic phase boundary (MPB) thin films often suffer from limited endurance and poor uniformity due to intrinsic phase instability. This work proposes a nanolaminate architecture that spatially separates competing phases, stabilizes phase formation, and suppresses wake‐up‐induced degradation.
Hojung Jang, Hyunsang Hwang
wiley   +1 more source

Somatic NLRP3 mosaicism in patients with “mutation-negative” CAPS: insights from a single centre UK cohort

open access: yesFrontiers in Pediatrics
IntroductionKnowledge about mosaicism in cryopyrin-associated periodic syndromes (CAPS) has expanded significantly with the use of next generation sequencing technologies.
Sonia Melo Gomes   +10 more
doaj   +1 more source

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