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Renata Glazar

Explore the profile of Renata Glazar including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 73
Followers 0
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Recent Articles
1.
Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, et al.
Am J Med Genet A . 2022 Jul; 188(10):3071-3077. PMID: 35875935
Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies and is associated with defective cilia function and structure. To date six genes...
2.
Hordyjewska-Kowalczyk E, Sowinska-Seidler A, Olech E, Socha M, Glazar R, Kruczek A, et al.
Clin Genet . 2019 Jul; 96(5):429-438. PMID: 31347140
RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is...
3.
Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, et al.
J Med Genet . 2013 May; 50(9):579-84. PMID: 23709756
Background: Metacarpal 4-5 fusion (MF4; MIM %309630) is a rare congenital malformation of the hand characterised by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly...
4.
Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jedrzejczak P, Latos-Bielenska A, et al.
J Med Genet . 2013 Jan; 50(3):187-93. PMID: 23315541
Background: The Nanos gene is a key translational regulator of specific mRNAs involved in Drosophila germ cell development. Disruption of mammalian homologues, Nanos2 or Nanos3, causes male infertility in mice....
5.
Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, et al.
BMC Pediatr . 2010 Dec; 10:88. PMID: 21134246
Background: The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region...