Search Results - "Magdalena, Klaniewska"

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene by Klaniewska, Magdalena, Jedrzejowska, Maria, Rydzanicz, Malgorzata, Paprocka, Justyna, Biela, Mateusz, Wolanska, Ewelina, Pollak, Agnieszka, Debek, Emilia, Sasiadek, Maria, Ploski, Rafal, Gos, Monika, Smigiel, Robert

“…protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction…”
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Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants by Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra

“…Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay…”
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Clinical heterogeneity of polish patients with KAT6B–related disorder by Magdalena, Klaniewska, Anna, Bolanowska‐Tyszko, Anna, Latos‐Bielenska, Aleksandra, Jezela‐Stanek, Krzysztof, Szczaluba, Malgorzata, Krajewska‐Walasek, Elzbieta, Ciara, Magdalena, Pelc, Dorota, Jurkiewicz, Piotr, Stawinski, Agnieszka, Zubkiewicz‐Kucharska, Małgorzata, Rydzanicz, Rafal, Ploski, Robert, Smigiel

“…Background Say‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by…”
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Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report by Klaniewska, Magdalena, Toczewski, Krystian, Rozensztrauch, Anna, Bloch, Michal, Dzielendziak, Agata, Gasperowicz, Piotr, Slezak, Ryszard, Ploski, Rafał, Rydzanicz, Małgorzata, Smigiel, Robert, Patkowski, Dariusz

“…The oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical…”
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Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review by Paprocka, Justyna, Hutny, Michał, Hofman, Jagoda, Tokarska, Agnieszka, Kłaniewska, Magdalena, Szczałuba, Krzysztof, Stembalska, Agnieszka, Jezela-Stanek, Aleksandra, Śmigiel, Robert

“…Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called…”
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Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia by Rozensztrauch, Anna, Śmigiel, Robert, Patkowski, Dariusz, Gerus, Sylwester, Kłaniewska, Magdalena, Quitmann, Julia Hannah, Dellenmark-Blom, Michaela

“…Aim: This study reports the reliability and validity of the Polish version of the Esophageal Atresia Quality of Life (EA-QOL) questionnaires, which were…”
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Factors affecting the mother’s choice of infant feeding method in Poland: a cross-sectional preliminary study in Poland by Rozensztrauch, Anna, Klaniewska, Magdalena, Berghausen-Mazur, Marta

“…Background The World Health Organization identifies exclusive breastfeeding as the gold standard for child nutrition. Breastfeeding provides many benefits to…”
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Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders by Pawelak, Agnieszka, Polczyk, Artur, Wolańska, Ewelina, Kłaniewska, Magdalena, Biela, Mateusz, Basiak, Aleksander, Franaszczyk, Maria, Rydzanicz, Małgorzata, Płoski, Rafał, Śmigiel, Robert

“…The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in…”
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The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes by Wolańska, Ewelina, Pollak, Agnieszka, Rydzanicz, Małgorzata, Pesz, Karolina, Kłaniewska, Magdalena, Rozensztrauch, Anna, Skiba, Paweł, Stawiński, Piotr, Płoski, Rafał, Śmigiel, Robert

“…Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are…”
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CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts by Kłaniewska, Magdalena, Rydzanicz, Malgorzata, Kosińska, Joanna, Biela, Mateusz, Walczak, Anna, Szmida, Elżbieta, Rozensztrauch, Anna, Płoski, Rafał, Śmigiel, Robert

“…CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are…”
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in IDYNC2H1/I Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert

“…Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and…”
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert

“…Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and…”
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene by Stembalska, Agnieszka, Rydzanicz, Ma?gorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert

“…LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L…”
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert

“…LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L…”
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert

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Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene by Klaniewska, Magdalena, Jedrzejowska, Maria, Rydzanicz, Malgorzata, Paprocka, Justyna, Biela, Mateusz, Wolanska, Ewelina, Pollak, Agnieszka, Debek, Emilia, Sasiadek, Maria, Ploski, Rafal, Gos, Monika, Smigiel, Robert

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Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants by Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra

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Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report by Klaniewska, Magdalena, Toczewski, Krystian, Rozensztrauch, Anna, Bloch, Michal, Dzielendziak, Agata, Gasperowicz, Piotr, Slezak, Ryszard, Ploski, Rafał, Rydzanicz, Małgorzata, Smigiel, Robert, Patkowski, Dariusz

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The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes by Wolańska, Ewelina, Pollak, Agnieszka, Rydzanicz, Małgorzata, Pesz, Karolina, Kłaniewska, Magdalena, Rozensztrauch, Anna, Skiba, Paweł, Stawiński, Piotr, Płoski, Rafał, Śmigiel, Robert

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