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Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?
- Published in:
- 2016
- By:
- Publication type:
- journal article
The Incidence of Multiple Fusions in a Series of Pediatric Soft Tissue and Bone Tumors.
- Published in:
- Pediatric & Developmental Pathology, 2024, v. 27, n. 1, p. 3, doi. 10.1177/10935266231199928
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- Publication type:
- Article
Hepatocellular Adenoma in an Infant With Burn-McKeown Syndrome: Report of a Case.
- Published in:
- Pediatric & Developmental Pathology, 2022, v. 25, n. 6, p. 668, doi. 10.1177/10935266221109468
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- Publication type:
- Article
Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway.
- Published in:
- Pediatric & Developmental Pathology, 2019, v. 22, n. 6, p. 594, doi. 10.1177/1093526619864230
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- Publication type:
- Article
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01401-z
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- Publication type:
- Article
A dual-genotype oligoastrocytoma with histologic, molecular, radiological and time-course features.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00998-3
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- Publication type:
- Article
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
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- Publication type:
- Article
Tatton‐Brown‐Rahman syndrome: Six individuals with novel features.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 673, doi. 10.1002/ajmg.a.61475
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- Publication type:
- Article
Novel MEAF6‐SUZ12 fusion in ossifying fibromyxoid tumor with unusual features.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 9, p. 631, doi. 10.1002/gcc.22951
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- Publication type:
- Article
Novel PPP1CB‐ALK fusion in spindle cell tumor defined by S100 and CD34 coexpression and distinctive stromal and perivascular hyalinization.
- Published in:
- Genes, Chromosomes & Cancer, 2020, v. 59, n. 8, p. 495, doi. 10.1002/gcc.22844
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- Publication type:
- Article
Clinical case conundrum: Hyperlactataemia in a case of type 1 diabetes with chronic hyperglycaemia.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1301, doi. 10.1007/s00439-019-02073-x
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- Publication type:
- Article
SETD2 mutations in primary central nervous system tumors.
- Published in:
- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0623-0
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- Publication type:
- Article
Clinicopathologic Characteristics of Pediatric Follicular Variant of Papillary Thyroid Carcinoma Subtypes: A Retrospective Cohort Study.
- Published in:
- Thyroid, 2022, v. 32, n. 11, p. 1353, doi. 10.1089/thy.2022.0239
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- Publication type:
- Article
Extrathyroidal Extension is an Important Predictor of Regional Lymph Node Metastasis in Pediatric Differentiated Thyroid Cancer.
- Published in:
- Thyroid, 2020, v. 30, n. 7, p. 1037, doi. 10.1089/thy.2019.0229
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- Publication type:
- Article
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling.
- Published in:
- Cancers, 2021, v. 13, n. 4, p. 706, doi. 10.3390/cancers13040706
- By:
- Publication type:
- Article
LGG-14. THE GENETIC LANDSCAPE OF DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.
- Published in:
- Neuro-Oncology, 2019, v. 21, p. ii102, doi. 10.1093/neuonc/noz036.157
- By:
- Publication type:
- Article
LGG-07. CLINICAL FEATURES OF NON-CANONICAL MOLECULAR DRIVERS IN PLGG; AN UPDATE FORM THE INTERNATIONAL PLGG TASKFORCE.
- Published in:
- Neuro-Oncology, 2019, v. 21, p. ii100, doi. 10.1093/neuonc/noz036.150
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- Publication type:
- Article
Expanding the molecular signatures of malignant ossifying fibromyxoid tumours with two novel gene fusions: PHF1::FOXR1 and PHF1::FOXR2.
- Published in:
- Histopathology, 2023, v. 82, n. 6, p. 946, doi. 10.1111/his.14868
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- Publication type:
- Article
Mesenchymal neoplasms with NTRK and other kinase gene alterations.
- Published in:
- Histopathology, 2022, v. 80, n. 1, p. 4, doi. 10.1111/his.14443
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- Publication type:
- Article
Novel APOD-GLI1 rearrangement in a sarcoma of unknown lineage.
- Published in:
- Histopathology, 2021, v. 78, p. 338, doi. 10.1111/his.14235
- By:
- Publication type:
- Article
Novel APOD–GLI1 rearrangement in a sarcoma of unknown lineage.
- Published in:
- Histopathology, 2021, v. 78, n. 1, p. 338, doi. 10.1111/his.14235
- By:
- Publication type:
- Article
Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms*.
- Published in:
- Histopathology, 2020, v. 76, n. 7, p. 1032, doi. 10.1111/his.14082
- By:
- Publication type:
- Article
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2.
- Published in:
- Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2017, v. 16, n. 3, p. 465, doi. 10.5604/01.3001.0009.8604
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- Publication type:
- Article
The spectrum of rare central nervous system (CNS) tumors with EWSR1‐non‐ETS fusions: experience from three pediatric institutions with review of the literature.
- Published in:
- Brain Pathology, 2021, v. 31, n. 1, p. 70, doi. 10.1111/bpa.12900
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- Publication type:
- Article
Diffuse leptomeningeal glioneuronal tumor in a child masquerading as an intramedullary spinal pilocytic astrocytoma.
- Published in:
- Neuro-Oncology Advances, 2023, v. 5, n. 1, p. 1, doi. 10.1093/noajnl/vdad049
- By:
- Publication type:
- Article
Thyroid Lobectomy for T1 Papillary Thyroid Carcinoma in Pediatric Patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Hepatic Fibrosis Is Universal Following Fontan Operation, and Severity is Associated With Time From Surgery: A Liver Biopsy and Hemodynamic Study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Hypertension and proteinuria-the needle in the haystack?: Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 9, p. 1457, doi. 10.1007/s00467-015-3128-0
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- Publication type:
- Article
Hypertension and proteinuria-the needle in the haystack?: Questions.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 9, p. 1455, doi. 10.1007/s00467-015-3127-1
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- Publication type:
- Article
Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring Clinicopathologic Features and Utility of Molecular Profiling.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 5, p. 430, doi. 10.1159/000526116
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- Publication type:
- Article
Utility of Fine-Needle Aspirations to Diagnose Pediatric Thyroid Nodules.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 7/8, p. 263, doi. 10.1159/000519307
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- Publication type:
- Article
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30419
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- Publication type:
- Article
MYOD1 as a prognostic indicator in rhabdomyosarcoma.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 9, p. 1, doi. 10.1002/pbc.29085
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- Publication type:
- Article
BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 6, p. 1, doi. 10.1002/pbc.28933
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- Publication type:
- Article
miRNA expression can classify pediatric thyroid lesions and increases the diagnostic yield of mutation testing.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2014, v. 464, n. 4, p. 505, doi. 10.1007/s00428-014-1563-0
- By:
- Publication type:
- Article
Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 1, p. 167, doi. 10.1007/s00401-018-1864-5
- By:
- Publication type:
- Article
Disease Burden and Outcome in Children and Young Adults With Concurrent Graves Disease and Differentiated Thyroid Carcinoma.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Characteristics of Follicular Variant Papillary Thyroid Carcinoma in a Pediatric Cohort.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2018, v. 103, n. 4, p. 1639, doi. 10.1210/jc.2017-02454
- By:
- Publication type:
- Article
Characteristics of Follicular Variant Papillary Thyroid Carcinoma in a Pediatric Cohort.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Anterior Mediastinal Neuroblastoma Associated with Syndrome of Inappropriate Antidiuretic Hormone Secretion: A Morphologic, Immunohistochemical, and Genetic Case Report and Review of the Literature.
- Published in:
- International Journal of Surgical Pathology, 2022, v. 30, n. 6, p. 689, doi. 10.1177/10668969221080061
- By:
- Publication type:
- Article
Discovery and functional characterization of the oncogenicity and targetability of a novel NOTCH1--ROS1 gene fusion in pediatric angiosarcoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006222
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- Publication type:
- Article
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a005975
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- Publication type:
- Article
Ectopic Functioning Adrenocortical Oncocytic Adenoma (Oncocytoma) with Myelolipoma Causing Virilization.
- Published in:
- Case Reports in Pathology, 2012, p. 1, doi. 10.1155/2012/326418
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- Publication type:
- Article
Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma.
- Published in:
- Cancer (0008543X), 2023, v. 129, n. 14, p. 2245, doi. 10.1002/cncr.34786
- By:
- Publication type:
- Article
RNA Sequencing for Solid Tumor Fusion Gene Detection: Proficiency Testing Practice and Performance Comparison.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 5, p. 538, doi. 10.5858/arpa.2023-0047-CP
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- Publication type:
- Article
The Pathologic Diagnosis of Pediatric Soft Tissue Tumors in the Era of Molecular Medicine: The Sarcoma Pediatric Pathology Research Interest Group Perspective.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 1, p. 107, doi. 10.5858/arpa.2022-0364-RA
- By:
- Publication type:
- Article
Neoplastic Cellularity Assessment in Molecular Testing: A Multi-institutional Practice Survey and Performance Challenge Identifies a Need for Standardization.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2022, v. 146, n. 9, p. 1062, doi. 10.5858/arpa.2021-0166-CP
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- Publication type:
- Article