Search Results - "Putnam, Angelica R."
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Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts
Published in Acta neuropathologica communications (19-09-2018)“…Keywords: Oligodendroglioma, IDH mutation, 1p/19q-codeletion, Teenager, Pediatric, TERT promoter, FGFR1, CIC, IDH1, Molecular neuro-oncology…”
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Come On Get HAPI: Moving Beyond Identification to Integration and Interpretation
Published in The FASEB journal (01-05-2022)“…PURPOSE Identifying microscopic images is a critical skill for histology and pathology; moving beyond identification to interpretation is integral to…”
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Developmentally anomalous cerebellar encephalocele arising within the cerebellopontine angle and extending into the adjacent skull base in a pediatric patient
Published in Child's nervous system (01-09-2021)“…Lesions of the cerebellopontine angle (CPA) in young children are rare, with the most common being arachnoid cysts and epidermoid inclusion cysts. The authors…”
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Targeted Next-Generation Sequencing Reveals Divergent Clonal Evolution in Components of Composite Pleomorphic Xanthoastrocytoma-Ganglioglioma
Published in Journal of neuropathology and experimental neurology (01-08-2022)“…Abstract Composite pleomorphic xanthoastrocytoma-ganglioglioma (PXA-GG) is an extremely rare central nervous system neoplasm with 2 distinct but intermingled…”
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Management of Symptomatic Hemorrhage From a Developmental Venous Anomaly
Published in Curēus (Palo Alto, CA) (12-04-2024)“…Developmental venous anomalies (DVAs) are clinically benign, low-flow vascular malformations that classically hemorrhage only when associated with a cerebral…”
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Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report
Published in World journal of hepatology (27-05-2019)“…Congenital dyserythropoietic anemia type 1 (CDA1) is an autosomal recessive disorder of ineffective erythropoiesis, resulting in increased iron storage. CDA1…”
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Accuracy of Suction Rectal Biopsy for Diagnosis of Hirschsprung's Disease in Neonates
Published in European journal of pediatric surgery (01-10-2019)“…Recent publications have questioned the sensitivity of suction rectal biopsy (SRB) for diagnosis of Hirschsprung's disease (HD) in newborns. A recent European…”
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Hirschsprung disease in the premature newborn: A population based study and 40-year single center experience
Published in Journal of pediatric surgery (2015)“…Abstract Background/Purpose Understanding of Hirschsprung disease (HD) in premature newborns (PHD) is anecdotal. We have sought in this study to identify the…”
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C/EBPβ-1 promotes transformation and chemoresistance in Ewing sarcoma cells
Published in Oncotarget (18-04-2017)“…CEBPB copy number gain in Ewing sarcoma was previously shown to be associated with worse clinical outcome compared to tumors with normal CEBPB copy number,…”
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Aggressive chemotherapy aimed at obviating radiation in two very young infants with disseminated anaplastic ependymoma
Published in Pediatric hematology oncology journal (01-09-2021)“…Ependymomas account for nearly 10% of pediatric intracranial tumors. Surgical resection followed by focal radiation constitutes standard management for…”
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Comparison of serum and heparinized plasma samples for measurement of chemistry analytes
Published in Clinical chemistry (Baltimore, Md.) (01-09-2004)Get full text
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Secondary osteosarcoma: is there a predilection for the chondroblastic subtype?
Published in Orthopedics (Thorofare, N.J.) (01-05-2015)“…Osteosarcoma is the most common form of primary bone cancer in the adolescent and young adult patient population. Outcomes in patients with secondary…”
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A Long-Term Survivor With Alveolar Capillary Dysplasia
Published in JACC. Case reports (01-08-2020)“…A patient with alveolar capillary dysplasia has survived more than 56 months with medical therapy. Intrauterine exposure to metformin potentially modified the…”
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Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
Published in American journal of medical genetics. Part A (01-07-2010)“…Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1). Familial cases have been…”
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Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma
Published in Cancer genetics (01-07-2012)“…Ewing sarcoma (ES) is the second most common bone tumor in children and young adults, with dismal outcomes for metastatic and relapsed disease. To better…”
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Premature Closure of the Foramen Ovale Secondary to Congenital Aortic Valvular Stenosis in a Stillborn
Published in Fetal and pediatric pathology (01-04-2012)“…Premature closure of the foramen ovale is a rare and deleterious condition that can occur as an isolated defect or in association with other congenital and…”
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Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly
Published in Fetal and pediatric pathology (10-11-2011)“…The Goldenhar anomaly (GA) is a heterogeneous field defect of uncertain cause and wide variability of expression, characterized by facial phenotypes, usually…”
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Prenatal death in Smith-Lemli-Opitz/RSH syndrome
Published in American journal of medical genetics. Part A (15-09-2005)Get full text
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MORTALITY AND PATHOLOGICAL FINDINGS IN C (OPITZ TRIGONOCEPHALY) SYNDROME
Published in Fetal and pediatric pathology (01-07-2006)“…Even as a rare multiple congenital anomalies/mental retardation syndrome, the C-syndrome (CS, or Opitz C-trigonoecephaly syndrome) is, at long last, beginning…”
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