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List of works by Svetlana D. Pack

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report.

scientific article published on 13 March 2018

ALK-positive histiocytosis with KIF5B-ALK fusion in an adult female

scientific article published on 01 August 2019

Absence of EWS/FLI1 fusion in olfactory neuroblastomas indicates these tumors do not belong to the Ewing's sarcoma family

scientific article published on 01 November 1999

Allelic deletion at chromosome 9p21(p16) and 17p13(p53) in microdissected sporadic dysplastic nevus

scientific article published on 01 February 1998

Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma.

scientific article published on January 2003

BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma

scientific article

BORIS, a paralogue of the transcription factor, CTCF, is aberrantly expressed in breast tumours.

scientific article published on 5 February 2008

CDK4 Amplification Reduces Sensitivity to CDK4/6 Inhibition in Fusion-Positive Rhabdomyosarcoma

scientific article

Characterization of a new hybrid mink-mouse clone panel: chromosomal and regional assignments of the GLO, ACY, NP, CKBB, ADH2, and ME1 loci in mink (Mustela vison)

scientific article published on 01 January 1992

Characterization of fibroblast growth factor receptor 1 in small-cell lung cancer.

scientific article published in April 2014

Clinical and molecular analysis of disseminated hemangioblastomatosis of the central nervous system in patients without von Hippel-Lindau disease. Report of four cases.

scientific article published in April 2002

Cloning and characterization of zebrafish CTCF: Developmental expression patterns, regulation of the promoter region, and evolutionary aspects of gene organization

scientific article (publication date: 21 June 2006)

Common genetic changes in hereditary and sporadic pituitary adenomas detected by comparative genomic hybridization

scientific article published on 01 May 2005

Conditional expression of the CTCF-paralogous transcriptional factor BORIS in normal cells results in demethylation and derepression of MAGE-A1 and reactivation of other cancer-testis genes

scientific article published on September 2005

Correlation between ERG Fusion Protein and Androgen Receptor Expression by Immunohistochemistry in Prostate, Possible Role in Diagnosis and Therapy.

scientific article

Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene.

scientific article

Cytogenetic, spectral karyotyping, fluorescence in situ hybridization, and comparative genomic hybridization characterization of two new secondary leukemia cell lines with 5q deletions, and MYC and MLL amplification.

scientific article published on July 2003

Deletion of the olfactomedin 4 gene is associated with progression of human prostate cancer.

scientific article

Detection of gene deletion in single metastatic tumour cells in lymphnode tissue by fluorescent in-situ hybridisation

scientific article published on 01 July 1997

Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes ⬇️

scientific article published on October 13, 1998

ER/PR positive epidermotropic primary cutaneous eccrine carcinoma as a cutaneous manifestation of MEN 2B.

scientific article published in December 2013

Early lesions of follicular lymphoma: a genetic perspective.

scientific article

Expression of a testis-specific form of Gal3st1 (CST), a gene essential for spermatogenesis, is regulated by the CTCF paralogous gene BORIS.

scientific article

Familial renal oncocytoma: clinicopathological study of 5 families

scientific article published on 01 August 1998

Follicular lymphoma in situ: clinical implications and comparisons with partial involvement by follicular lymphoma

scientific article

Gene mapping in the common shrew (Sorex araneus; Insectivora) by shrew-rodent cell hybrids: chromosome localization of the loci for HPRT, TK, LDHA, MDH1, G6PD, PGD, and ADA.

scientific article published in November 1995

Generation of Tumor Antigen-Specific iPSC-Derived Thymic Emigrants Using a 3D Thymic Culture System.

scientific article published in March 2018

Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes.

scientific article published in November 1999

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups

scientific article published on 22 August 2019

Heightened expression of CTCF in breast cancer cells is associated with resistance to apoptosis.

scientific article published on June 2005

High mesothelin expression in advanced lung adenocarcinoma is associated with KRAS mutations and a poor prognosis.

scientific article published on May 2015

Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3

scientific article (publication date: March 1998)

Human gamma-satellite DNA maintains open chromatin structure and protects a transgene from epigenetic silencing

scientific article published on 13 January 2009

Identification of CARS-ALK fusion in primary and metastatic lesions of an inflammatory myofibroblastic tumor

scientific article published on 01 September 2003

In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules

scientific article

In vivo modeling of metastatic human high-grade serous ovarian cancer in mice

scientific article published on 04 June 2020

Individual adult human neurons display aneuploidy: detection by fluorescence in situ hybridization and single neuron PCR.

scientific article published on 7 December 2005

Induction of glioblastoma multiforme in nonhuman primates after therapeutic doses of fractionated whole-brain radiation therapy

scientific article published in December 2002

Interspecies comparative genomic hybridization (I-CGH): a new twist to study animal tumor models

scientific article

Isolation and cultivation of blastocyst-derived stem cell lines from American mink (Mustela vison)

scientific article published on December 1, 1992

Localization of deletion to a 300 Kb interval of chromosome 11q13 in cervical cancer.

scientific article published on August 2002

MYC gene rearrangement in diffuse large B-cell lymphoma does not confer a worse prognosis following dose-adjusted EPOCH-R.

scientific article published on 22 June 2017

Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion.

scientific article published on 4 July 2014

Melanoma in patients with GATA2 deficiency.

scientific article published on 20 November 2017

Molecular profiling and targeted therapy for advanced thoracic malignancies: a biomarker-derived, multiarm, multihistology phase II basket trial

scientific article

Multifocal dysembryoplastic neuroepithelial tumours associated with refractory epilepsy.

scientific article published in September 2014

Multilineage involvement of the fusion gene in patients with FIP1L1/PDGFRA-positive hypereosinophilic syndrome.

scientific article

Multiple endocrine neoplasia 1 gene alterations in MEN1-associated and sporadic lipomas

scientific article published on 01 March 1998

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

scientific article

PD-1 Blockade in Mediastinal Gray-Zone Lymphoma.

scientific article published in July 2017

Primary subcutaneous spindle cell Ewing sarcoma with strong S100 expression and EWSR1-FLI1 fusion: a case report

scientific article published on 15 April 2014

Reassignment of the EPB4.1 gene to 1p36 and assessment of its involvement in neuroblastomas.

scientific article

Reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter coincides with derepression of this cancer-testis gene in lung cancer cells

scientific article

Regional assignment of the genes for TK1, GALK, ALDC, and ESD on chromosome 8 in the American mink by chromosome-mediated gene transfer

scientific article published on 01 January 1985

Regional assignments of eight genes on chromosome 2 in the American mink

scientific article published on 01 January 1985

Simultaneous suppression of epidermal growth factor receptor and c-erbB-2 reverses aneuploidy and malignant phenotype of a human ovarian carcinoma cell line.

scientific article published on February 2004

Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.

scientific article

Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas

scientific article published on 01 September 1998

Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion

scientific article published on 01 February 2002

Tal1/SCL binding to pericentromeric DNA represses transcription.

scientific article

The X-autosome translocation in the common shrew (Sorex araneus L.): late replication in female somatic cells and pairing in male meiosis.

scientific article published on May 1993

The binding sites for the chromatin insulator protein CTCF map to DNA methylation-free domains genome-wide

scientific article published on 15 July 2004

The human vitamin D receptor gene (VDR) is localized to region 12cen-q12 by fluorescent in situ hybridization and radiation hybrid mapping: genetic and physical VDR map.

scientific article

The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy

scientific article published on 14 September 2020

The structural complexity of the human BORIS gene in gametogenesis and cancer

scientific article

Translocation of chromosomes 11 and 22 in choroidal metastatic Ewing sarcoma detected by fluorescent in situ hybridization

scientific article published on 01 February 1999

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas

scientific article published on 01 September 1998

Tumor derived vasculogenesis in von Hippel-Lindau disease-associated tumors.

scientific article published on 17 February 2014

Two Cases of Spinal, Extraosseous, Intradural Ewing's sarcoma/Peripheral Neuroectodermal Tumor: Radiologic, Pathologic, and Molecular Analysis

scientific article published on 30 January 2014

VAM-1: a new member of the MAGUK family binds to human Veli-1 through a conserved domain

scientific article

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease

scientific article published on 01 August 2000

Von hippel-lindau disease associated pulmonary carcinoid with cranial metastasis

scientific article

cDNA sequencing and analysis of POV1 (PB39): a novel gene up-regulated in prostate cancer.

scientific article published in July 1998

von Hippel-Lindau disease gene alterations associated with endolymphatic sac tumor

scientific article published on 01 July 1997

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