Results 81 to 90 of about 16,136 (213)
The Zygosity questionnaire asks parents of twin pairs about the resemblance between the twins to determine whether the twin pair is mono- or dizygotic. This questionnaire consists of 10 questions: 6 items about physical similarities between the twin and ...
Netherlands Twin Register
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Prenatal Diagnosis, EarlyView.ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
Large-scale zygosity testing using single nucleotide polymorphisms.
, 2007 A requirement for performing robust genetic and statistical analyses on twins is correctly assigned zygosities. In order to increase the power to detect small risk factors of disease, zygosity testing should also be amenable for high throughput screening.
Lagerberg, C +9 more
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European PsychiatryBackground Depression affects twice as many women as men. Risk factors for depression certainly impact this difference, but their strong interconnectedness challenges the assessment of standalone contributions.
Daiyan Zhang, Maria Semkovska
doaj +1 more source
Pest Management Science, EarlyView.This review bridges the gap between understanding resistance mechanisms and applying them in weed management, highlighting how mechanistic insights reveal vulnerabilities that can guide more effective control strategies. Abstract Herbicide resistance remains one of the most intensively studied areas in weed science because of its direct consequences ...
Luan Cutti +3 more
wiley +1 more source
Clinical and molecular features of PRCD‐associated retinopathy
Acta Ophthalmologica, EarlyView.Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin +30 more
wiley +1 more source
The importance of zygosity knowledge for twins, parents and professionals
, 2020 Zygosity refers to the degree of genetic similarity within each pair of twins. Monozygotic (identical) twins have the same genetic sequence, whereas dizygotic twins differ genetically as much as any pair of siblings.
Carrick, SE (15778676) +8 more
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British Journal of Haematology, EarlyView.Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications for clinical care and research.
Elena Vuelta +9 more
wiley +1 more source
Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk
Blood Cancer JournalClonal hematopoiesis (CH) can be caused by either single gene mutations (eg point mutations in JAK2 causing CHIP) or mosaic chromosomal alterations (e.g., loss of heterozygosity at chromosome 9p).
Ashwin Kishtagari +17 more
doaj +1 more source
Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
Clinical Genetics, EarlyView.Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler +5 more
wiley +1 more source