M. Stefanova

发表

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene

L. Samuelsson, M. Stefanova, Liz Ivarsson, 2015, American journal of medical genetics. Part A.

Thyroid hormonal axis regulates protein C anticoagulation pathway in rats

N. Negrev, M. Stefanova, E. Stancheva, 2011, Central European Journal of Biology.

Characterization of a murine glyceraldehyde-3-phosphate dehydrogenase pseudogene.

D. Birnbaum, V. Pirisi, F. Galland, 1990, Biochimie.

Chromosomal gains and losses are uncommon in hairy cell leukemia: a study based on comparative genomic hybridization and interphase fluorescence in situ hybridization.

A. Hagemeijer, C. de Wolf‐Peeters, J. Dierlamm, 2001, Cancer genetics and cytogenetics.

Genetic abnormalities in marginal zone B‐cell lymphoma

A. Hagemeijer, J. Dierlamm, L. Michaux, 2000, Hematological oncology.

Analysis of the P53, RB/D13S25, and P16 tumor suppressor genes in marginal zone B-cell lymphoma: An interphase fluorescence in situ hybridization study.

A. Hagemeijer, C. Wolf‐peeters, C. de Wolf‐Peeters, 2000, Cancer genetics and cytogenetics.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

S. Biskup, A. Pepler, I. Danielsson, 2019, Molecular Syndromology.

Short communication Chromosomal gains and losses are uncommon in hairy cell leukemia: a study based on comparative genomic hybridization and interphase fluorescence in situ hybridization

A. Hagemeijer, C. Wolf‐peeters, J. Dierlamm, 2001 .

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

L. Samuelsson, B. Isidor, Toshiyuki Yamamoto, 2014, Journal of Human Genetics.

Unusual clinical course and acquisition of del(11)(q23) in second lymphatic blastic phase of a Ph-positive chronic myeloid leukemia.

J. Dierlamm, L. Michaux, D. Hossfeld, 1999, Cancer genetics and cytogenetics.

Philadelphia variant, t(5;9;22)(q13;q34;q11), in a case with chronic myeloid leukemia.

M. Stefanova, G. Balatzenko, J. Grudeva-Popova, 2003, Journal of B.U.ON. : official journal of the Balkan Union of Oncology.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

H. Bolz, D. Wieczorek, K. Kutsche, 2003, American journal of medical genetics. Part A.

Novel Philadelphia variant t(Y;9;22)(q12;q34;q11) in a case of chronic myeloid leukemia.

J. Dierlamm, L. Michaux, D. Hossfeld, 1999, Cancer genetics and cytogenetics.

Three cases of two unrelated families with a microduplication 22q11.2: developmental skull defects and phenotype variability

Jean-Pierre Fryns, J. Fryns, C. Darnfors, 2011 .

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

J. Fryns, M. Kirchhoff, C. Fagerberg, 2009, American journal of medical genetics. Part A.

Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

M. Stefanova, G. Vălkova, 1993, Journal of medical genetics.

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome

S. Mundlos, Yiping Shen, J. Gusella, 2007, American journal of medical genetics. Part A.

Zimmermann–Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: Molecular cytogenetic characterization of the breakpoint regions

K. Kutsche, S. Fuchs, M. Stefanova, 2003, American journal of medical genetics. Part A.

Fluorescence In Situ Hybridization (FISH): A Powerful Method for the Detection of Genetic Abnormalities in Metaphases and in Interphase Nuclei

A. Hagemeijer, J. Dierlamm, L. Michaux, 1999, Transfusion Medicine and Hemotherapy.

Polysomy 13 with concomitant deletion of 13q13-14 involving the retinoblastoma gene and the D13S25 locus in a case of acute myeloid leukemia.

J. Dierlamm, L. Michaux, D. Hossfeld, 2000, Cancer genetics and cytogenetics.

Hippocampal asymmetry in angiotensin II modulatory effects on learning and memory in rats.

M. Stefanova, R. Tashev, 2015, Acta neurobiologiae experimentalis.

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.

K. Kutsche, C. Has, L. Bruckner-Tuderman, 2005, The Journal of investigative dermatology.

A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants

A. Gréen, M. Stefanova, Anna Sandestig, 2019, Molecular Syndromology.

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.

K. Kutsche, Lovisa Lovmar, Anna Erlandsson, 2013, European journal of medical genetics.

Localization of the 5' end of the MCF2 oncogene to human chromosome 15q15----q23.

D. Birnbaum, M. Lafage, F. Galland, 1992, Cytogenetics and cell genetics.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital‐spectrum disorder with a variable, intermediate phenotype

H. Bolz, A. Gal, P. Meinecke, 2005, American journal of medical genetics. Part A.

S. Biskup, J. Jonasson, J. Wahlström, 2018, Molecular Syndromology.

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.

K. Kutsche, Lovisa Lovmar, M. Stefanova, 2013, European journal of medical genetics.