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List of works by Kamilla Schlade-Bartusiak

8q22-->qter duplication in a child with multiple congenital malformations: case report

scientific article published on 01 January 2000

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

scientific article

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

scientific article published on 01 May 2009

A co-occurrence of osteogenesis imperfecta type VI and cystinosis

scientific article published on 23 April 2012

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

scientific article published on 21 June 2009

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

scientific article

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)

scientific article published on 06 August 2012

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

scientific article published on 01 May 2000

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

scientific article published on 28 May 2014

Classical and molecular cytogenetics in analysis of diepoxybutane-induced chromosome aberrations ⬇️

scientific article published on November 9, 1998

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

scientific article published on January 2006

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures

scientific article published on 01 October 2005

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

scientific article published on 3 December 2015

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

scientific article

Individual sensitivity to the mutagenic agents in patients with larynx cancer

scientific article published on 01 January 2004

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

scientific article published in December 2006

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

scientific article published on 07 October 2013

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

scientific article published in January 2002

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

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

scientific article

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

scientific article published on 30 September 2006

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

scientific article published in January 2005

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

scientific article

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