Search Results - "Nikkels, Peter Gj"
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Placental histopathology in early-onset fetal growth restriction with use of sildenafil, a secondary analysis of the Dutch STRIDER study
Published in Placenta (Eastbourne) (01-11-2024)Get full text
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2
Association of Maternal Prepregnancy Body Mass Index With Placental Histopathological Characteristics in Uncomplicated Term Pregnancies
Published in Pediatric and developmental pathology (01-01-2019)“…Introduction Prepregnancy obesity is a growing global health problem and has several risks for mother and child. The aim of this study was to systematically…”
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3
PPIB Mutations Cause Severe Osteogenesis Imperfecta
Published in American journal of human genetics (09-10-2009)“…Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis…”
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4
Placenta Pathology From Term Born Neonates With Normal or Adverse Outcome
Published in Pediatric and developmental pathology (01-04-2021)“…Background The incidence of umbilical cord or placental parenchyma abnormalities associated with mortality or morbidity of term infants is lacking. Methods…”
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5
Disturbed Desmoglein-2 in the intercalated disc of pediatric patients with dilated cardiomyopathy
Published in Human pathology (01-09-2017)“…Dilated cardiomyopathy (DCM) leads to disturbed contraction and force transduction, and is associated with substantial mortality in all age groups. Involvement…”
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Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis—An Emerging Complex
Published in Pediatric and developmental pathology (01-01-2018)“…We describe a case of a pregnancy complicated by early onset asymmetric growth restriction with anhydramnios with termination occurring at 21 weeks. Fetal…”
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Human Tregs at the materno-fetal interface show site-specific adaptation reminiscent of tumor Tregs
Published in JCI insight (17-09-2020)“…Tregs are crucial for maintaining maternal immunotolerance against the semiallogeneic fetus. We investigated the elusive transcriptional profile and functional…”
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Punctate white matter lesions in infants: new insights using susceptibility-weighted imaging
Published in Neuroradiology (01-09-2011)“…Introduction Punctate white matter lesions (PWML) are recognized with magnetic resonance imaging (MRI) as hypersignal on T1-weighted imaging and hyposignal on…”
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Maternal and infant characteristics associated with perinatal arterial stroke in the preterm infant
Published in Stroke (1970) (01-06-2007)“…Most perinatal arterial stroke (PAS) studies that investigated infant characteristics have excluded preterm infants from the study population. We sought to…”
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10
Acardiac twin pregnancies part III: Model simulations
Published in Birth defects research. A Clinical and molecular teratology (01-12-2016)“…Background Acardiac monochorionic twins lack cardiac function but grow by passive perfusion of the pump twin's deoxygenated arterial blood through placental…”
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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
Published in American journal of medical genetics. Part A (01-05-2014)“…Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by…”
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Acardiac twin pregnancies part II: Fetal risk of chorangioma and sacrococcygeal teratoma predicted by pump/acardiac umbilical vein diameters
Published in Birth defects research. A Clinical and molecular teratology (01-09-2016)“…Background We recently published pump/acardiac umbilical venous diameter (UVD) ratios, representing the pump twin's excess cardiac output fraction, of 27…”
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13
Pontocerebellar hypoplasia type 2: a neuropathological update
Published in Acta neuropathologica (01-10-2007)“…Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at…”
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14
5q11.2 deletion in a patient with tracheal agenesis
Published in European journal of human genetics : EJHG (01-11-2010)“…Tracheal agenesis (TA) is a rare congenital anomaly of the respiratory tract. Many patients have associated anomalies, suggesting a syndromal phenotype. In a…”
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15
Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
Published in Circulation. Genomic and precision medicine (01-09-2019)“…Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality…”
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16
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
Published in European journal of human genetics : EJHG (01-12-2009)“…Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase…”
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17
Nitrotyrosine in human neonatal spinal cord after perinatal asphyxia
Published in Neonatology (Basel, Switzerland) (01-01-2008)“…Spinal cord injury has been reported after perinatal asphyxia in full-term neonates. To examine the role of excessive nitric oxide production in perinatal…”
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Porphyromonas gingivalis within Placental Villous Mesenchyme and Umbilical Cord Stroma Is Associated with Adverse Pregnancy Outcome: e0146157
Published in PloS one (01-01-2016)“…Intrauterine presence of Porphyromonas gingivalis (Pg), a common oral pathobiont, is implicated in preterm birth. Our aim was to determine if the location of…”
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Soluble Leukocyte-Associated Ig-Like Receptor-1 in Amniotic Fluid Is of Fetal Origin and Positively Associates with Lung Compliance: e83920
Published in PloS one (01-12-2013)“…The soluble form of the inhibitory immune receptor leukocyte-Associated Ig-like Receptor-1 (sLAIR-1) is present in plasma, urine and synovial fluid and…”
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Evaluation of candidate genes as a cause of chondrodysplasia in Labrador retrievers
Published in The veterinary journal (1997) (01-02-2011)“…Chondrodysplasia (CD) is a disabling, hereditary disease in Labradors with short limbs, warranting genetic screening in families at risk. Segregation analysis…”
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