Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Authors: Filges, I., Sparagana, S., Sargent, M., Selby, K., Schlade-Bartusiak, K., Lueder, G. T., Robichaux-Viehoever, A., Schlaggar, B. L., Shimony, J. S., Shinawi, M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 164(8):2003-2012

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Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p

Authors: Schlade-Bartusiak, K., Tucker, T., Safavi, H., Livingston, J., van Allen, M. I., Eydoux, P., Armstrong, L.

Source: EUROPEAN JOURNAL OF MEDICAL GENETICS. 56(5):229-235

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN332784030&indx=1&recIds=ETOCRN332784030

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

Authors: Schlade-Bartusiak, K., Brown, L., Lomax, B., Bruyre, H., Gillan, T., Hamilton, S., McGillivray, B., Eydoux, P.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 158(9):2322-2327

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN317620262&indx=1&recIds=ETOCRN317620262

Uniparental disomy: can SNP array data be used for diagnosis?

Authors: Tucker, T., Schlade-Bartusiak, K., Eydoux, P., Nelson, T. N., Brown, L.

Source: GENETICS IN MEDICINE. 14(8):753-756

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN316499336&indx=1&recIds=ETOCRN316499336

A co-occurrence of osteogenesis imperfecta type VI and cystinosis

Authors: Tucker, T., Nelson, T., Sirrs, S., Roughley, P., Glorieux, F. H., Moffatt, P., Schlade-Bartusiak, K., Brown, L., Rauch, F.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 158(6):1422-1426

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN312518919&indx=1&recIds=ETOCRN312518919

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease

Authors: Wilson, A. M., Schlade-Bartusiak, K., Tison, J. L., Macintyre, G., Cox, D. W.

Source: BIOCHIMIE -PARIS-. 91(10):1342-1345

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN260012494&indx=1&recIds=ETOCRN260012494

A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations

Authors: Schlade-Bartusiak, K., Ardinger, H., Cox, D. W.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 149(5):1012-1018

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A child with deletion (14)(q24.3q32.13) and auditory neuropathy

Authors: Schlade-Bartusiak, K., Macintyre, G., Zunich, J., Cox, D. W.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 146(1):117-123

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN221339676&indx=1&recIds=ETOCRN221339676

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations

Authors: Laczmanska, I., Gil, J., Karpinski, P., Stembalska, A., Trusewicz, A., Pesz, K., Ramsey, D., Schlade-Bartusiak, K., Blin, N., Sasiadek, M. M.

Source: ENVIRONMENTAL AND MOLECULAR MUTAGENESIS. 48(8):666-671

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN216907826&indx=1&recIds=ETOCRN216907826

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features

Authors: Stembalska, A., Laczmanska, I., Schlade-Bartusiak, K., Czemarmazowicz, H., Murawski, M., Sasiadek, M.

Source: EUROPEAN JOURNAL OF PEDIATRICS. 166(1):67-71

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN199164570&indx=1&recIds=ETOCRN199164570

Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency

Authors: Laczmanska, I., Gil, J., Karpinski, P., Stembalska, A., Kozlowska, J., Busza, H., Trusewicz, A., Pesz, K., Ramsey, D., Schlade-Bartusiak, K.

Source: ENVIRONMENTAL AND MOLECULAR MUTAGENESIS. 47(9):666-673

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN199788885&indx=1&recIds=ETOCRN199788885

Cytogenetic and molecular cytogenetic characterization of the stable ovarian carcinoma cell line (OvBH-1)

Authors: Schlade-Bartusiak, K., Sasiadek, M. M., Bar, J. K., Urbschat, S., Blin, N., Montenarh, M., Harlozinska-Szmyrka, A.

Source: CANCER GENETICS AND CYTOGENETICS. 164(1):10-15

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN179502110&indx=1&recIds=ETOCRN179502110

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization

Authors: Schlade-Bartusiak, K., Stembalska, A., Ramsey, D.

Source: JOURNAL OF APPLIED GENETICS. 46(4):407-414

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN179053717&indx=1&recIds=ETOCRN179053717

FISH-Mapping of Telomeric 14q32 Deletions: Search for the Cause of Seizures

Authors: Schlade-Bartusiak, K., Costa, T., Summers, A. M., Nowaczyk, M. J. M., Cox, D. W.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 138(3):218-224

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN176847509&indx=1&recIds=ETOCRN176847509

Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes

Authors: Schlade-Bartusiak, K., Rozik, K., Laczmanska, I., Ramsey, D., Sasiadek, M.

Source: MUTATION RESEARCH. 558(1-2):121-130

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN145050490&indx=1&recIds=ETOCRN145050490

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients

Authors: Sasiadek, M., Schlade-Bartusiak, K., Zych, M., Noga, L., Czemarmazowicz, H.

Source: JOURNAL OF APPLIED GENETICS. 43(4):525-534

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN123132142&indx=1&recIds=ETOCRN123132142

GSTT1 and GSTM1 polymorphism in patients with the carcinoma laryngis

Authors: Schlade-Bartusiak, K., Zych, M., Krecicki, T., Sasiadek, M.

Source: ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE. 11(1):25-28

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN120320970&indx=1&recIds=ETOCRN120320970

Analysis of adaptive response to bleomycin and mitomycin C

Authors: Schlade-Bartusiak, K., Stembalska-Kozlowska, A., Bernady, M., Kudyba, M., Sasiadek, M.

Source: MUTATION RESEARCH. 513(1-2):75-81

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Glutathione S-transferases GSTM1 and GSTT1 genetic polymorphism in the population of Lower Silesia

Authors: Schlade-Bartusiak, K., Bloch, T., Sasiadek, M., Dobosz, T., Morawski, A.

Source: ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE. 9(3):251-256

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN087131713&indx=1&recIds=ETOCRN087131713

Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH

Authors: Zych, M., Schlade-Bartusiak, K., Chorostkowska, A., Stembalska, A., Krecicki, T., Sasiadek, M.

Source: CANCER LETTERS. 152(2):123-127

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN077523730&indx=1&recIds=ETOCRN077523730