Effectiveness of Fetal Medicine Foundation's Non-Biochemical Risk Calculation Algorithm in Detection of Common Trisomies Screening at 11-13 weeks of Gestation: 12 Years' Experience in Northern Thailand. [PDF]
Kunanukulwatana C+3 more
europepmc +1 more source
Abstract Objective We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming to provide information on the prognosis of r20 regarding seizures, cognitive function, comorbidities, and social living. Methods Patients diagnosed with r20 in our hospital were identified, and clinical data were extracted from medical
Kentaro Tokumoto+11 more
wiley +1 more source
Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options. [PDF]
Lanzarone V, Eixarch E, Borrell A.
europepmc +1 more source
Inherited non‐syndromic polydactyly in a Berber and Arabian‐Berber horse family
Abstract Background Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
Ella Baville+7 more
wiley +1 more source
A metastasis‐associated pannexin‐1 mutant (Panx11‐89) forms a minimalist ATP release channel
A truncation mutant of Panx1 (Panx11‐89), enriched in metastatic breast cancer cells, is capable of forming a large ATP‐permeable membrane channel despite containing only 20% of the amino‐terminal amino acids of the wild‐type channel protein (wtPanx1). However, cells expressing Panx11‐89 alone die, whereas co‐expression of wtPanx1 is protective.
Junjie Wang+5 more
wiley +1 more source
The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments. [PDF]
Popescu-Hobeanu G+12 more
europepmc +1 more source
ABSTRACT Introduction The majority of patients with essential thrombocythemia (ET) show somatic mutations of JAK2, CALR, or MPL. Around 10% of cases lack these mutations (“triple negative” ET, TN‐ET). Additionally, some patients with bona fide “primary thrombocytosis” (PT) [i.e., high platelet (PLT)‐ count with no apparent underlying causes] do not ...
Valentina Sangiorgio+8 more
wiley +1 more source
Spectrum of Cytogenetic Abnormalities in Adolescent and Young Adult Patients of B-Cell Acute Lymphoblastic Leukemia in a Tertiary Care Hospital in Pakistan. [PDF]
Brohi S+9 more
europepmc +1 more source