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List of works by Dobrawa Napierala

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

scientific article

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

scientific article

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

scientific article published in February 2008

Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues

scientific article

Dspp-independent Effects of Transgenic Trps1 Overexpression on Dentin Formation

scientific article

Dual role of the Trps1 transcription factor in dentin mineralization.

scientific article

Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo.

scientific article published on June 2009

Molecular Diagnostics of Genetic Diseases: Experience from Studies of DMD, APC, TSC1, and OPG Genes. Part 1

scientific article published in 2000

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

scientific article published on 01 March 1999

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

scientific article

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

scientific article

Phosphate induces formation of matrix vesicles during odontoblast-initiated mineralization in vitro

scientific article

Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer

scientific article published on December 2011

Specificity protein 7 is not essential for tooth morphogenesis.

scientific article

The growth and aggressive behavior of human osteosarcoma is regulated by a CaMKII-controlled autocrine VEGF signaling mechanism

scientific article

The presence of germ line mosaicism in cleidocranial dysplasia

scientific article published on 01 June 2007

Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice ⬇️

scientific article published on August 1, 2012

Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth

scientific article published on 01 November 2008

Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.

scientific article published on 17 April 2008

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