Faculty

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Jaclyn A. Biegel, PhD
Professor of Pathology (Clinical Scholar)
Pediatrics
CHLA 4650 W. Sunset Blvd. Off Campus Los Angeles

Publications

Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients. Genes Chromosomes Cancer. 2017 Oct; 56(10):730-749. View in: PubMed

Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor. J Neurosurg Pediatr. 2017 Jul; 20(1):51-55. View in: PubMed

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation. Nat Genet. 2017 Feb; 49(2):289-295. View in: PubMed

Clonal hematopoiesis in patients with dyskeratosis congenita. Am J Hematol. 2016 Dec; 91(12):1227-1233. View in: PubMed

Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. Neuro Oncol. 2016 Jun; 18(6):764-78. View in: PubMed

Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. J Neuropathol Exp Neurol. 2016 Apr; 75(4):306-15. View in: PubMed

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. Oncotarget. 2016 Jan 12; 7(2):1732-40. View in: PubMed

Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings. Pediatr Blood Cancer. 2016 07; 63(7):1175-80. View in: PubMed

Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet. 2016 Jan-Feb; 209(1-2):1-10. View in: PubMed

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Am J Med Genet A. 2015 Dec; 167A(12):3186-91. View in: PubMed

A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays. Cancer Genet. 2015 Nov; 208(11):525-36. View in: PubMed

SMARCB1-deficient Vulvar Neoplasms: A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 14 Cases. Am J Surg Pathol. 2015 Jun; 39(6):836-49. View in: PubMed

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia. Cancer Genet. 2015 Apr; 208(4):115-28. View in: PubMed

Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas. Brain Pathol. 2015 Mar; 25(2):182-92. View in: PubMed

Disrupting LIN28 in atypical teratoid rhabdoid tumors reveals the importance of the mitogen activated protein kinase pathway as a therapeutic target. Oncotarget. 2015 Feb 20; 6(5):3165-77. View in: PubMed

Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog. 2015; 20(3-4):199-216. View in: PubMed

Integration of cytogenomic data for furthering the characterization of pediatric B-cell acute lymphoblastic leukemia: a multi-institution, multi-platform microarray study. Cancer Genet. 2015 Jan-Feb; 208(1-2):1-18. View in: PubMed

Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient. J Pediatr Oncol. 2015; 3(1):24-28. View in: PubMed

SWI/SNF chromatin remodeling complexes and cancer. Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):350-66. View in: PubMed

Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11. 2 deletion. Cancer Genet. 2014 Sep; 207(9):415-9. View in: PubMed

Introduction from the editor. Cancer Genet. 2014 Sep; 207(9):345. View in: PubMed

CLL/SLL diagnosed in an adolescent. Pediatr Blood Cancer. 2014 Jun; 61(6):1107-10. View in: PubMed

Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor. Cancer Genet. 2014 Apr; 207(4):153-9. View in: PubMed

Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors. Cancer Genet. 2014 Apr; 207(4):111-23. View in: PubMed

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol. 2014 Jan; 164(1):73-82. View in: PubMed

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients. Am J Hematol. 2013 Oct; 88(10):862-7. View in: PubMed

Cribriform neuroepithelial tumor arising in the lateral ventricle. Pediatr Dev Pathol. 2013 Jul-Aug; 16(4):301-7. View in: PubMed

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A. 2013 May; 161A(5):993-1001. View in: PubMed

Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions. Mod Pathol. 2013 Mar; 26(3):385-92. View in: PubMed

Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1. J Clin Exp Oncol. 2013; 2(2). View in: PubMed

Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012 Dec 15; 59(7):1155-7. View in: PubMed

Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. Ann Diagn Pathol. 2012 Dec; 16(6):504-7. View in: PubMed

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. Br J Haematol. 2012 Nov; 159(4):480-2. View in: PubMed

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012 Aug; 122(8):2983-8. View in: PubMed

Definition of genetic events directing the development of distinct types of brain tumors from postnatal neural stem/progenitor cells. Cancer Res. 2012 Jul 01; 72(13):3381-92. View in: PubMed

Novel cell lines established from pediatric brain tumors. J Neurooncol. 2012 Apr; 107(2):269-80. View in: PubMed

Claudin-6 is a nonspecific marker for malignant rhabdoid and other pediatric tumors. Am J Surg Pathol. 2012 Jan; 36(1):73-80. View in: PubMed

Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. Am J Surg Pathol. 2012 Jan; 36(1):154-60. View in: PubMed

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer Genet. 2012 Jan-Feb; 205(1-2):42-54. View in: PubMed

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis. 2011 Nov-Dec; 6(6):592-602. View in: PubMed

Ganglioglioma arising from dysplastic cortex. Epilepsia. 2011 Sep; 52(9):e106-8. View in: PubMed

Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma. Clin Neuropathol. 2011 Sep-Oct; 30(5):235-41. View in: PubMed

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011 Jul 01; 56(7):1026-31. View in: PubMed

p16INK4A and p14ARF tumor suppressor pathways are deregulated in malignant rhabdoid tumors. J Neuropathol Exp Neurol. 2011 Jul; 70(7):596-609. View in: PubMed

Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11. 2 deletion syndrome. J Neurooncol. 2011 May; 102(3):509-14. View in: PubMed

Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr. 2011 Mar; 170(3):285-94. View in: PubMed

The genetic landscape of the childhood cancer medulloblastoma. Science. 2011 Jan 28; 331(6016):435-9. View in: PubMed

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011 Jan; 56(1):7-15. View in: PubMed

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genet. 2011 Jan; 204(1):26-38. View in: PubMed

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25. View in: PubMed

Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010 Jul; 12(7):621-30. View in: PubMed

High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010 May; 98(1):117-23. View in: PubMed

ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth. Cancer Res. 2010 Feb 01; 70(3):1236-46. View in: PubMed

Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. J Neurosurg Pediatr. 2010 Jan; 5(1):75-9. View in: PubMed

A robust xenotransplantation model for acute myeloid leukemia. Leukemia. 2009 Nov; 23(11):2109-17. View in: PubMed

ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status. Pediatr Dev Pathol. 2009 Jul-Aug; 12(4):275-83. View in: PubMed

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathol. 2009 Jul; 19(3):449-58. View in: PubMed

Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. Am J Med Genet A. 2009 May; 149A(5):1067-9. View in: PubMed

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res. 2009 Mar 15; 15(6):1923-30. View in: PubMed

SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009 Mar; 52(3):312-3. View in: PubMed

The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009 Mar; 8(5):412-6. View in: PubMed

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome Res. 2009 Feb; 19(2):276-83. View in: PubMed

Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009 Jan 20; 27(3):385-9. View in: PubMed

Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. PLoS One. 2009; 4(2):e4482. View in: PubMed

Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol. 2009 Jan-Feb; 28(1):1-10. View in: PubMed

Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. Mod Pathol. 2009 Jan; 22(1):142-50. View in: PubMed

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009 Jan; 46(1):68-72. View in: PubMed

Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol. 2008 Oct; 28(20):6223-33. View in: PubMed

Atypical teratoid/rhabdoid tumor arising from the third cranial nerve. J Neuroophthalmol. 2008 Sep; 28(3):207-11. View in: PubMed

Dramatic response of acute monoblastic leukemia to a single dose of docetaxel. Leuk Lymphoma. 2008 Mar; 49(3):577-80. View in: PubMed

Oncolytic efficacy of recombinant vesicular stomatitis virus and myxoma virus in experimental models of rhabdoid tumors. Clin Cancer Res. 2008 Feb 15; 14(4):1218-27. View in: PubMed

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11. 2 and malignant rhabdoid tumor. Hum Genet. 2007 Sep; 122(2):117-27. View in: PubMed

Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol. 2007 Sep; 84(2):217-22. View in: PubMed

Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review. Pediatr Dev Pathol. 2007 Sep-Oct; 10(5):409-15. View in: PubMed

Prediction of oligodendroglial tumor subtype and grade using perfusion weighted magnetic resonance imaging. J Neurosurg. 2007 Sep; 107(3):600-9. View in: PubMed

Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol. 2007 Aug; 84(1):49-55. View in: PubMed

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2007 Aug 01; 143A(15):1767-70. View in: PubMed

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2007 Jul; 46(7):684-93. View in: PubMed

Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol. 2007 Jun; 38(6):935-9. View in: PubMed

P-Akt expression distinguishes two types of malignant rhabdoid tumors. J Cell Physiol. 2006 Nov; 209(2):422-7. View in: PubMed

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer. 2006 Sep; 47(3):279-84. View in: PubMed

Parental heat exposure and risk of childhood brain tumor: a Children's Oncology Group study. Am J Epidemiol. 2006 Aug 01; 164(3):222-31. View in: PubMed

Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006 May; 27(5):962-71. View in: PubMed

Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006 Jan 15; 20(1):E11. View in: PubMed

Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol. 2006 Jan; 8(1):79-82. View in: PubMed

Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17745-50. View in: PubMed

High-resolution detection and mapping of genomic DNA alterations in neuroblastoma. Genes Chromosomes Cancer. 2005 Aug; 43(4):390-403. View in: PubMed

Isochromosome 17q is a negative prognostic factor in poor-risk childhood medulloblastoma patients. Clin Cancer Res. 2005 Jul 01; 11(13):4733-40. View in: PubMed

INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol. 2005 Jul; 18(7):951-8. View in: PubMed

Chromophobe renal cell carcinoma in a pediatric living-related kidney transplant recipient. Am J Kidney Dis. 2005 Jun; 45(6):e105-8. View in: PubMed

INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol. 2005 May; 64(5):391-7. View in: PubMed

Early molecular detection of central nervous system relapse in a child with systemic anaplastic large cell lymphoma: case report and review of the literature. Pediatr Blood Cancer. 2005 Apr; 44(4):400-6. View in: PubMed

Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol. 2005 Jan; 15(1):23-8. View in: PubMed

Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol. 2004 Nov; 28(11):1485-91. View in: PubMed

Molecular analysis of pediatric brain tumors. Curr Oncol Rep. 2004 Nov; 6(6):445-52. View in: PubMed

Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004 Jul 15; 22(14):2877-84. View in: PubMed

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004 May; 28(5):644-50. View in: PubMed

TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms. J Clin Oncol. 2003 Dec 15; 21(24):4505-9. View in: PubMed

Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002 Nov; 8(11):3461-7. View in: PubMed

No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors. Genes Chromosomes Cancer. 2002 Aug; 34(4):398-405. View in: PubMed

Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol. 2002 Jun-Jul; 24(5):337-42. View in: PubMed

Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6. Proc Natl Acad Sci U S A. 2002 Apr 02; 99(7):4568-73. View in: PubMed

Risk assignment in childhood brain tumors: the emerging role of molecular and biologic classification. Curr Oncol Rep. 2002 Mar; 4(2):114-22. View in: PubMed

Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature. 2002 Jan 24; 415(6870):436-42. View in: PubMed

The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res. 2002 Jan 01; 62(1):323-8. View in: PubMed

Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Mol Ther. 2001 Dec; 4(6):586-92. View in: PubMed

Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation. Hum Pathol. 2001 Aug; 32(8):884-6. View in: PubMed

Detailed molecular analysis of 1p36 in neuroblastoma. Med Pediatr Oncol. 2001 Jan; 36(1):37-41. View in: PubMed

Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system. Clin Cancer Res. 2000 Jul; 6(7):2759-63. View in: PubMed

Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer. 2000 May; 28(1):31-7. View in: PubMed

TrkC expression predicts good clinical outcome in primitive neuroectodermal brain tumors. J Clin Oncol. 2000 Mar; 18(5):1027-35. View in: PubMed

Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11. 2. Gene. 2000 Jan 04; 241(1):133-41. View in: PubMed

Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes. J Cell Sci. 1999 Sep; 112 Pt 18:3039-47. View in: PubMed

Cytogenetics and molecular genetics of childhood brain tumors. Neuro Oncol. 1999 Apr; 1(2):139-51. View in: PubMed

Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol. 1999 Mar; 23(3):249-56. View in: PubMed

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999 Jan 01; 59(1):74-9. View in: PubMed

Establishment and molecular characterization of five cell lines derived from renal and extrarenal malignant rhabdoid tumors. Mod Pathol. 1998 Dec; 11(12):1228-37. View in: PubMed

Molecular cytogenetic studies of pediatric ependymomas. J Neurooncol. 1998 Mar; 37(1):25-33. View in: PubMed

A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), and enhanced MYC expression in the absence of gene amplification. Cancer Genet Cytogenet. 1998 Jan 15; 100(2):159-64. View in: PubMed

Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36. 2. Cytogenet Cell Genet. 1998; 81(1):60-4. View in: PubMed

Genetics of pediatric central nervous system tumors. J Pediatr Hematol Oncol. 1997 Nov-Dec; 19(6):492-501. View in: PubMed

Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? Eur J Cancer. Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? Eur J Cancer. 1997 Oct; 33(12):1991-6. View in: PubMed

Molecular genetic analysis of familial neuroblastoma. Eur J Cancer. 1997 Oct; 33(12):1923-8. View in: PubMed

Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma. Eur J Cancer. 1997 Oct; 33(12):1957-61. View in: PubMed

Mutation analysis and loss of heterozygosity of PEDF in central nervous system primitive neuroectodermal tumors. Int J Cancer. 1997 Jul 17; 72(2):277-82. View in: PubMed

Localization of the human Ror1 gene (NTRKR1) to chromosome 1p31-p32 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1997 Apr 15; 41(2):283-5. View in: PubMed

Primitive neuroectodermal tumors of the central nervous system. Brain Pathol. 1997 Apr; 7(2):765-84. View in: PubMed

Prognostic significance of chromosome 17p deletions in childhood primitive neuroectodermal tumors (medulloblastomas) of the central nervous system. Clin Cancer Res. 1997 Mar; 3(3):473-8. View in: PubMed

ECK, a human EPH-related gene, maps to 1p36. 1, a common region of alteration in human cancers. Genomics. 1997 Mar 01; 40(2):371-4. View in: PubMed

No preferential parent of origin for the isochromosome 17q in childhood primitive neuroectodermal tumor (medulloblastoma). Genes Chromosomes Cancer. 1997 Feb; 18(2):143-6. View in: PubMed

Familial neuroblastoma: a three-generation pedigree and a further association with Hirschsprung disease. Med Pediatr Oncol. 1997 Jan; 28(1):1-5. View in: PubMed

Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res. 1996 Aug 01; 56(15):3421-5. View in: PubMed

Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. Genomics. 1996 Jul 15; 35(2):289-98. View in: PubMed

Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996 Jul; 85(1):56-65. View in: PubMed

Narrowing the critical region for a rhabdoid tumor locus in 22q11. Genes Chromosomes Cancer. 1996 Jun; 16(2):94-105. View in: PubMed

In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet. 1996 Jan; 5(1):15-21. View in: PubMed

Frequent expression of a mutant epidermal growth factor receptor in multiple human tumors. Cancer Res. 1995 Dec 01; 55(23):5536-9. View in: PubMed

p53 gene mutations in pediatric brain tumors. Med Pediatr Oncol. 1995 Dec; 25(6):431-6. View in: PubMed

Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. Hum Mol Genet. 1995 Dec; 4(12):2355-62. View in: PubMed

Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein-tyrosine kinase gene of the EPH family. Hum Mol Genet. 1995 Nov; 4(11):2033-45. View in: PubMed

Isochromosome 17q demonstrated by interphase fluorescence in situ hybridization in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer. 1995 Oct; 14(2):85-96. View in: PubMed

cDNA cloning, molecular characterization, and chromosomal localization of NET(EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain. Genomics. 1995 Sep 20; 29(2):426-37. View in: PubMed

Neurologic and other disorders in relatives of pediatric patients with CNS tumors. Pediatr Neurol. 1995 Sep; 13(2):111-6. View in: PubMed

Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas. Int J Cancer. 1995 Aug 22; 64(4):243-7. View in: PubMed

Congenital anomalies and genetic disorders in families of children with central nervous system tumours. J Med Genet. 1995 Aug; 32(8):627-32. View in: PubMed

A region of consistent deletion in neuroblastoma maps within human chromosome 1p36. 2-36. 3. Proc Natl Acad Sci U S A. 1995 Jun 06; 92(12):5520-4. View in: PubMed

Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization. Genes Chromosomes Cancer. 1995 Mar; 12(3):186-92. View in: PubMed

Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA. 1995 Feb 15; 273(7):553-7. View in: PubMed

Cloning and chromosomal localization of the human TRK-B tyrosine kinase receptor gene (NTRK2). Genomics. 1995 Jan 20; 25(2):538-46. View in: PubMed

Localization of the human zipper protein kinase gene (ZPK) to chromosome 12q13 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1995 Jan 20; 25(2):597-8. View in: PubMed

EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations. J Clin Invest. 1994 Aug; 94(2):489-96. View in: PubMed

Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res. 1994 Jun 01; 54(11):2869-72. View in: PubMed

Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines. Genes Chromosomes Cancer. 1994 Feb; 9(2):129-35. View in: PubMed

Abnormalities of chromosome 22 in pediatric meningiomas. Genes Chromosomes Cancer. 1994 Feb; 9(2):81-7. View in: PubMed

Polymorphism at codon 36 of the p53 gene. Oncogene. 1994 Jan; 9(1):327-8. View in: PubMed

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet. 1993 Oct; 30(10):807-12. View in: PubMed

Translocation (11;22)(p13;q12): primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes Cancer. 1993 Jun; 7(2):119-21. View in: PubMed

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet. 1993 Apr 01; 46(1):95-7. View in: PubMed

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993 Feb; 3(2):113-7. View in: PubMed

Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet. 1993 Jan; 52(1):176-82. View in: PubMed

Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors. J Clin Invest. 1992 Nov; 90(5):1911-8. View in: PubMed

Desmoplastic primitive neuroectodermal tumor with divergent differentiation. Broadening the spectrum of desmoplastic infantile neuroepithelial tumors. Am J Surg Pathol. 1992 Oct; 16(10):998-1006. View in: PubMed

Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. Genes Chromosomes Cancer. 1992 Sep; 5(2):104-8. View in: PubMed

Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics. 1992 Aug; 13(4):1150-6. View in: PubMed

Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors. Cancer Res. 1992 Jun 15; 52(12):3391-5. View in: PubMed

Malignant fibrous histiocytoma of the brain in a six-year-old girl. Genes Chromosomes Cancer. 1992 Jun; 4(4):309-13. View in: PubMed

Childhood meningiomas. Experience in the modern imaging era. Pediatr Neurosurg. 1992; 18(1):16-23. View in: PubMed

Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 Nov; 3(6):483-4. View in: PubMed

Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 Mar; 3(2):153-61. View in: PubMed

Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg. 1990 Nov; 73(5):710-4. View in: PubMed

Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707m. Ann Neurol. 1990 Aug; 28(2):136-45. View in: PubMed

Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer. 1989 Nov; 1(2):139-47. View in: PubMed

Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. N Engl J Med. 1989 Sep 28; 321(13):906. View in: PubMed

Complex karyotypes in a series of pediatric osteosarcomas. Cancer Genet Cytogenet. 1989 Mar; 38(1):89-100. View in: PubMed

A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone. Cancer Genet Cytogenet. 1988 Dec; 36(2):211-5. View in: PubMed

Structural chromosomal abnormalities in human medulloblastoma. Cancer Genet Cytogenet. 1988 Jan; 30(1):91-101. View in: PubMed

Hydroxyurea synchronization increases mitotic yield in human glioma cell lines. Acta Neuropathol. 1987; 73(3):309-12. View in: PubMed

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