Results 101 to 110 of about 1,654,437 (300)

lncRNA TUG1 modulates proliferation, apoptosis, invasion, and angiogenesis via targeting miR-29b in trophoblast cells

open access: yesHuman Genomics, 2019
Background Pre-eclampsia (PE) is regarded as the leading cause of maternal and neonatal morbidity and mortality. Nevertheless, the potential mechanism for the regulation of trophoblast behaviors and the pathogenesis of PE remain largely elusive. Recently,
Qian Li   +7 more
doaj   +1 more source

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration.
Shumin Ren   +6 more
doaj   +1 more source

Feasibility and Preliminary Efficacy of Integrative Neuromuscular Training for Childhood Cancer Survivors: A Pilot Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of childhood acute lymphoblastic leukemia (ALL) often exhibit early deficits in muscle and movement competence, which can compromise long‐term health. Integrative neuromuscular training (INT), a multifaceted approach combining fundamental movement activities with strength exercises, may help address these deficits during ...
Anna Maria Markarian   +7 more
wiley   +1 more source

Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis [PDF]

open access: yes, 2002
Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential ...
Booth, D.R.   +7 more
core  

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider   +4 more
wiley   +1 more source

Blinatumomab Utilization in Pediatric B‐Cell Acute Lymphoblastic Leukemia: Experience From the Mountain West

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Blinatumomab is a bispecific T‐cell engager approved for the treatment of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). Outpatient home infusion reduces hospitalization burden and optimizes resource utilization, but is logistically challenging.
Angela Parra del Riego   +10 more
wiley   +1 more source

Clinical Outcomes of Fetal Ventriculomegaly: A Retrospective Analysis from a Tertiary Referral Center

open access: yesInternational Journal of Women's Health
Danhua Guo,1,2 Shuqiong He,1,2 Na Lin,1,2 Yifang Dai,1,2 Ying Li,1,2 Liangpu Xu,1– 3 Xiaoqing Wu1– 4 1Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics &
Guo D   +6 more
doaj  

Outcomes of Genetic Testing in a Genitourinary Genetics Clinic [PDF]

open access: yes, 2018
Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited ...
Pace, Annelise
core   +1 more source

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman   +7 more
wiley   +1 more source

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

open access: yesMolecular Cytogenetics, 2019
Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT)
Ganye Zhao   +6 more
doaj   +1 more source

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