The COL7A1 mutation database
Wertheim-Tysarowska, Katarzyna, Sobczyńska-Tomaszewska, Agnieszka, Kowalewski, Cezary, Skroński, Michał, Święćkowski, Grzegorz, Kutkowska-Kaźmierczak, Anna, Woźniak, Katarzyna, Bal, Jerzy
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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Journal Article
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
Kutkowska-Kaźmierczak, Anna, Boczar, Maria, Kalka, Ewa, Castañeda, Jennifer, Klapecki, Jakub, Pietrzyk, Aleksandra, Barczyk, Artur, Malinowska, Olga, Landowska, Aleksandra, Gambin, Tomasz, Kowalczyk, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Smyk, Marta, Dawidziuk, Mateusz, Niepokój, Katarzyna, Paczkowska, Magdalena, Szyld, Paweł, Lipska-Ziętkiewicz, Beata, Szczałuba, Krzysztof, Kostyk, Ewa, Runge, Agata, Rutkowska, Karolina, Płoski, Rafał, Nowakowska, Beata, Bal, Jerzy, Obersztyn, Ewa, Gos, Monika
Published in Genes (17.08.2021)
Published in Genes (17.08.2021)
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Journal Article
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
Jakubiak, Aleksandra, Szczałuba, Krzysztof, Badura-Stronka, Magdalena, Kutkowska-Kaźmierczak, Anna, Jakubiuk-Tomaszuk, Anna, Chilarska, Tatiana, Pilch, Jacek, Braun-Walicka, Natalia, Castaneda, Jennifer, Wołyńska, Katarzyna, Wiśniewska, Marzena, Kugaudo, Monika, Bielecka, Monika, Pesz, Karolina, Wierzba, Jolanta, Latos-Bieleńska, Anna, Obersztyn, Ewa, Krajewska-Walasek, Małgorzata, Śmigiel, Robert
Published in Journal of applied genetics (01.09.2021)
Published in Journal of applied genetics (01.09.2021)
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Journal Article
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling
Kutkowska-Kaźmierczak, Anna, Gos, Monika, Obersztyn, Ewa
Published in Journal of applied genetics (01.05.2018)
Published in Journal of applied genetics (01.05.2018)
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Journal Article
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid
Derwińska, Katarzyna, Mierzewska, Hanna, Goszczańska, Alicja, Szczepanik, Elżbieta, Xia, Zhilian, Kuśmierska, Katarzyna, Tryfon, Jolanta, Kutkowska-Kaźmierczak, Anna, Bocian, Ewa, Mazurczak, Tadeusz, Obersztyn, Ewa, Stankiewicz, Paweł
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2012)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2012)
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Journal Article
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features
Kutkowska-Kaźmierczak, Anna, Rydzanicz, Małgorzata, Chlebowski, Aleksander, Kłosowska-Kosicka, Kamila, Mika, Adriana, Gruchota, Jakub, Jurkiewicz, Elżbieta, Kowalewski, Cezary, Pollak, Agnieszka, Stradomska, Teresa Joanna, Kmieć, Tomasz, Jakubowski, Rafał, Gasperowicz, Piotr, Walczak, Anna, Śladowski, Dariusz, Jankowska-Steifer, Ewa, Korniszewski, Lech, Kosińska, Joanna, Obersztyn, Ewa, Nowak, Wieslaw, Śledziński, Tomasz, Dziembowski, Andrzej, Płoski, Rafał
Published in Journal of medical genetics (01.06.2018)
Published in Journal of medical genetics (01.06.2018)
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Journal Article
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Paprocka, Justyna, Jezela-Stanek, Aleksandra, Śmigiel, Robert, Walczak, Anna, Mierzewska, Hanna, Kutkowska-Kaźmierczak, Anna, Płoski, Rafał, Emich-Widera, Ewa, Steinborn, Barbara
Published in Genes (25.04.2023)
Published in Genes (25.04.2023)
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Journal Article
A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome‐wide array‐CGH
Nowakowska, Beata, Kutkowska‐Kaźmierczak, Anna, Stankiewicz, Paweł, Bocian, Ewa, Obersztyn, Ewa, Ou, Zhishuo, Cheung, Sau Wai, Cai, Wei‐Wen
Published in American journal of medical genetics. Part A (15.08.2007)
Published in American journal of medical genetics. Part A (15.08.2007)
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Journal Article
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome
Dawidziuk, Mateusz, Kutkowska-Kazmierczak, Anna, Bukowska-Olech, Ewelina, Jurek, Marta, Kalka, Ewa, Guilbride, Dorothy Lys, Furmanek, Mariusz Ireneusz, Bekiesinska-Figatowska, Monika, Bal, Jerzy, Gawlinski, Pawel
Published in International journal of molecular sciences (08.01.2022)
Published in International journal of molecular sciences (08.01.2022)
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Journal Article
Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
Bzdęga, Katarzyna, Kutkowska-Kaźmierczak, Anna, Deutsch, Gail H, Plaskota, Izabela, Smyk, Marta, Niemiec, Magdalena, Barczyk, Artur, Obersztyn, Ewa, Modzelewski, Jan, Lipska, Iwona, Stankiewicz, Paweł, Gajecka, Marzena, Rydzanicz, Małgorzata, Płoski, Rafał, Szczapa, Tomasz, Karolak, Justyna A
Published in Genes (23.02.2023)
Published in Genes (23.02.2023)
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Journal Article
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
Kowalczyk, Katarzyna, Bartnik-Głaska, Magdalena, Smyk, Marta, Plaskota, Izabela, Bernaciak, Joanna, Kędzior, Marta, Wiśniowiecka-Kowalnik, Barbara, Jakubów-Durska, Krystyna, Braun-Walicka, Natalia, Barczyk, Artur, Geremek, Maciej, Castañeda, Jennifer, Kutkowska-Kaźmierczak, Anna, Własienko, Paweł, Dębska, Marzena, Kucińska-Chahwan, Anna, Roszkowski, Tomasz, Kozłowski, Szymon, Mikulska, Boyana, Issat, Tadeusz, Obersztyn, Ewa, Nowakowska, Beata Anna
Published in Genes (19.12.2021)
Published in Genes (19.12.2021)
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Journal Article
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
Smyk, Marta, Geremek, Maciej, Ziemkiewicz, Kamila, Gambin, Tomasz, Kutkowska-Kaźmierczak, Anna, Kowalczyk, Katarzyna, Plaskota, Izabela, Wiśniowiecka-Kowalnik, Barbara, Bartnik-Głaska, Magdalena, Niemiec, Magdalena, Grad, Dominika, Piotrowicz, Małgorzata, Gieruszczak-Białek, Dorota, Pietrzyk, Aleksandra, Crowley, T Blaine, Giunta, Victoria, McGinn, Daniel E, Zackai, Elaine H, Tran, Oanh, Emanuel, Beverly S, McDonald-McGinn, Donna M, Nowakowska, Beata A
Published in Genes (09.03.2023)
Published in Genes (09.03.2023)
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Journal Article
Recommendations on the diagnosis of male infertility - genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]
Jankowska, Katarzyna, Kutkowska-Kaźmierczak, Anna, Zgliczyński, Wojciech, Kochański, Andrzej, Słowikowska-Hilczer, Jolanta
Published in Endokrynologia Polska (01.01.2020)
Published in Endokrynologia Polska (01.01.2020)
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Journal Article
Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency
Hogendorf, Anna, Zieliński, Maciej, Constantinou, Maria, Śmigiel, Robert, Wierzba, Jolanta, Wyka, Krystyna, Wędrychowicz, Anna, Jakubiuk-Tomaszuk, Anna, Budzynska, Edyta, Piotrowicz, Malgorzata, Lipska-Ziętkiewicz, Beata S, Kaczorowska, Ewa, Cieślikowska, Agata, Kutkowska-Kaźmierczak, Anna, Fijak-Moskal, Jolanta, Kugaudo, Monika, Kosińska-Urbańska, Małgorzata, Szadkowska, Agnieszka, Borowiec, Maciej, Niedźwiecki, Maciej, Trzonkowski, Piotr, Młynarski, Wojciech
Published in Frontiers in immunology (17.11.2021)
Published in Frontiers in immunology (17.11.2021)
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Journal Article
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
Bartnik, Magdalena, Nowakowska, Beata, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Kędzior, Marta, Bernaciak, Joanna, Ziemkiewicz, Kamila, Gambin, Tomasz, Sykulski, Maciej, Bezniakow, Natalia, Korniszewski, Lech, Kutkowska-Kaźmierczak, Anna, Klapecki, Jakub, Szczałuba, Krzysztof, Shaw, Chad A, Mazurczak, Tadeusz, Gambin, Anna, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Published in Journal of applied genetics (01.02.2014)
Published in Journal of applied genetics (01.02.2014)
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Journal Article
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics
Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, Wertheim-Tysarowska, Katarzyna, Giza, Aleksandra, Mordasewicz-Goliszewska, Maria, Bal, Jerzy, Obersztyn, Ewa
Published in Journal of applied genetics (01.08.2015)
Published in Journal of applied genetics (01.08.2015)
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Journal Article
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Dawidziuk, Mateusz, Kutkowska-Kaźmierczak, Anna, Gawliński, Paweł, Wiszniewski, Wojciech, Gos, Monika, Stawiński, Piotr, Rydzanicz, Małgorzata, Kosińska, Joanna, Własienko, Paweł, Malinowska Kordowska, Olga, Bartnik-Głaska, Magdalena, Bernaciak, Joanna, Szczałuba, Krzysztof, Bekiesińska-Figatowska, Monika, Płoski, Rafał, Bal, Jerzy, Olimpia Rzońca-Niewczas, Sylwia
Published in Journal of Mother and Child (30.04.2021)
Published in Journal of Mother and Child (30.04.2021)
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Journal Article
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
Bogucki, Piotr, Naganska, Ewa, Jurek, Marta, Hofman-Zacharska, Dorota, Kutkowska-Kazmierczak, Anna, Obersztyn, Ewa, Fiszer, Urszula
Published in Journal of epileptology (01.06.2019)
Published in Journal of epileptology (01.06.2019)
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