Search Results - "Marszalek, Bozena"

Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome by Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr

“…Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion,…”
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Characteristics of Factors Influencing the Occurrence of Cleft Lip and/or Palate: A Case Analysis and Literature Review by Kulesa-Mrowiecka, Małgorzata, Lipowicz, Anna, Marszałek-Kruk, Bożena Anna, Kania, Damian, Wolański, Wojciech, Myśliwiec, Andrzej, Dowgierd, Krzysztof

“…Cleft lip with or without cleft palate (CL/P) stands as the most common congenital facial anomaly, stemming from multifactorial causes. Our study aimed to…”
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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome by Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr, Śmigiel, Robert, Trzeciak, Wiesław H

“…Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes…”
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Treacher Collins Syndrome: Genetics, Clinical Features and Management by Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr, Dowgierd, Krzysztof, Śmigiel, Robert

“…Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development…”
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Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome by Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr, Śmigiel, Robert, Trzeciak, Wiesław H.

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Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome by Marszalek, Bozena, Wisniewski, Slawomir A., Wojcicki, Piotr, Kobus, Kazimierz, Trzeciak, Wieslaw H.

“…Treacher Collins syndrome (TCS) is caused by mutations in the TCOF1 gene. This gene encodes a serine/alanine‐rich protein called treacle. The structure of the…”
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Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management by Marszałek-Kruk, Bożena Anna, Myśliwiec, Andrzej, Lipowicz, Anna, Wolański, Wojciech, Kulesa-Mrowiecka, Małgorzata, Dowgierd, Krzysztof

“…Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft…”
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Genetic differentiation of the edible dormouse Glis glis in the Stolowe Mountains (Poland) by Moska, Magdalena, Jakubiec, Jadwiga, Mucha, Anna, Kozyra, Katarzyna, Wierzbicki, Heliodor, Zaton-Dobrowolska, Magdalena, Kruszynski, Wojciech, Marszalek-Kruk, Bozena

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Genetic variability within the Polish population of red fox (Vulpes vulpes) - preliminary results by Zatoń-Dobrowolska, Magdalena, Mucha, Anna, Morrice, David, Wierzbicki, Heliodor, Moska, Magdalena, Przysiecki, Piotr, Dobrowolski, Maciej, Kruszyński, Wojciech, Marszałek-Kruk, Bożena

“…Red fox (Vulpes vulpes) represents family Canidae and is a very common predator in Poland. Foxes are present throughout all the country in a different…”
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Clinical features, treatment and genetic background of Treacher Collins syndrome by Marszałek, Bozena, Wójcicki, Piotr, Kobus, Kazimierz, Trzeciak, Wiesław H

“…Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia,…”
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Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome by Marszalek, Bozena, Wisniewski, Slawomir A., Wojcicki, Piotr, Kobus, Kazimierz, Trzeciak, Wieslaw H.

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Mutation in exon 13 of the TCOF1 gene in patient with Treacher Collins syndrome by Marszałek-Kruk et al, Bożena Anna

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