Search Results - "Lipska, Beata S."

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes by Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, Man, Stella A., Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska‐Ziętkiewicz, Beata S., Saris, Jasper J., Charlet‐Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amélie

“…Alternative splicing (AS) is crucial for cell‐type‐specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity…”
Get full text

The 2019 and 2021 International Workshops on Alport Syndrome by Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S, Hoefele, Julia, Flinter, Frances, Gale, Daniel P, Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H, Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B, Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra

“…In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely…”
Get full text

Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia by Pastorczak, Agata, Hogendorf, Anna, Urbanska, Zuzanna, Budzynska, Edyta, Jesionek‐Kupnicka, Dorota, Gach, Agnieszka, Hawula, Wanda, Smigiel, Robert, Skiba, Pawel, Sasiadek, Maria, Lejman, Monika, Constatinou, Maria, Lipska‐Ziętkiewicz, Beata S., Mlynarski, Wojciech

“…Microdeletions of 7p12.1 encompassing the IKZF1 gene locus are rare, with few cases reported. The common phenotype includes intellectual disability,…”
Get full text

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort by Trautmann, Agnes, Bodria, Monica, Ozaltin, Fatih, Gheisari, Alaleh, Melk, Anette, Azocar, Marta, Anarat, Ali, Caliskan, Salim, Emma, Francesco, Gellermann, Jutta, Oh, Jun, Baskin, Esra, Ksiazek, Joanna, Remuzzi, Giuseppe, Erdogan, Ozlem, Akman, Sema, Dusek, Jiri, Davitaia, Tinatin, Özkaya, Ozan, Papachristou, Fotios, Firszt-Adamczyk, Agnieszka, Urasinski, Tomasz, Testa, Sara, Krmar, Rafael T, Hyla-Klekot, Lidia, Pasini, Andrea, Özcakar, Z Birsin, Sallay, Peter, Cakar, Nilgun, Galanti, Monica, Terzic, Joelle, Aoun, Bilal, Caldas Afonso, Alberto, Szymanik-Grzelak, Hanna, Lipska, Beata S, Schnaidt, Sven, Schaefer, Franz

“…Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The…”
Get full text

Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression by Trautmann, Agnes, Seide, Svenja, Lipska-Ziętkiewicz, Beata S., Ozaltin, Fatih, Szczepanska, Maria, Azocar, Marta, Jankauskiene, Augustina, Zurowska, Alexandra, Caliskan, Salim, Saeed, Bassam, Morello, William, Emma, Francesco, Litwin, Mieczyslaw, Tsygin, Alexey, Fomina, Svitlana, Wasilewska, Anna, Melk, Anette, Benetti, Elisa, Gellermann, Jutta, Stajic, Natasa, Tkaczyk, Marcin, Baiko, Sergey, Prikhodina, Larisa, Csaicsich, Dagmar, Medynska, Anna, Krisam, Regina, Breitschwerdt, Heike, Schaefer, Franz

“…Background The aim of the current PodoNet registry analysis was to evaluate the outcome of steroid-resistant nephrotic syndrome (SRNS) in children who were not…”
Get full text

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome by Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.

“…We present the phenotypes of seven previously unreported patients with Marbach–Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous…”
Get full text

Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype by Koczkowska, Magdalena, Jąkalski, Marcin, Birkholz-Walerzak, Dorota, Kostecka, Anna, Iliszko, Mariola, Wójcik, Magdalena, Lewandowski, Krzysztof, Milska-Musa, Katarzyna, Buckley, Patrick G., Drężek, Kinga, Juhas, Ulana, Kuziemska, Ewa, Maciejewska, Agnieszka, Pawłowski, Ryszard, Wasąg, Bartosz, Filipowicz, Natalia, Chojnowska, Katarzyna, Ławrynowicz, Urszula, Dumanski, Jan P., Lipska-Ziętkiewicz, Beata S., Mieczkowski, Jakub, Piotrowski, Arkadiusz

“…Numeric sex chromosome abnormalities are commonly associated with an increased cancer risk. Here, we report a 14-year-old boy with a rare mosaic 45, X/48, XYYY…”
Get full text

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia by Lipska-Ziętkiewicz, Beata S, Gellermann, Jutta, Boyer, Olivia, Gribouval, Olivier, Ziętkiewicz, Szymon, Kari, Jameela A, Shalaby, Mohamed A, Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysun K, Massella, Laura, Hyla-Klekot, Lidia, Habbig, Sandra, Godron, Astrid, Szczepańska, Maria, Bieniaś, Beata, Drożdż, Dorota, Odeh, Rasha, Jarmużek, Wioletta, Zachwieja, Katarzyna, Trautmann, Agnes, Antignac, Corinne, Schaefer, Franz

“…Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to…”
Get full text

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants by Jankowski, Maciej, Daca-Roszak, Patrycja, Obracht-Prondzyński, Cezary, Płoski, Rafał, Lipska-Ziętkiewicz, Beata S., Ziętkiewicz, Ewa

“…  Differential distribution of genetic variants’ frequency among human populations is caused by the genetic drift in isolated populations, historical…”
Get full text

Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group by Boyer, Olivia, Schaefer, Franz, Haffner, Dieter, Bockenhauer, Detlef, Hölttä, Tuula, Bérody, Sandra, Webb, Hazel, Heselden, Marie, Lipska-Zie˛tkiewicz, Beata S., Ozaltin, Fatih, Levtchenko, Elena, Vivarelli, Marina

“…Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders characterized by nephrotic-range proteinuria, hypoalbuminaemia and oedema, which…”
Get full text

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency by 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

“…Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the…”
Get full text

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms by Limon-Sztencel, Anna, Lipska-Ziętkiewicz, Beata S, Chmara, Magdalena, Wasag, Bartosz, Bidzan, Leszek, Godlewska, Beata R, Limon, Janusz

“…Over the past two decades, the APOE gene and its polymorphisms have been among the most studied risk factors of Alzheimer disease (AD) development; yet, there…”
Get full text

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice by Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, Schaefer, Franz

“…Abstract The overall diagnostic yield of massively parallel sequencing–based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases…”
Get full text

NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum by Bouchireb, Karim, Boyer, Olivia, Gribouval, Olivier, Nevo, Fabien, Huynh-Cong, Evelyne, Morinière, Vincent, Campait, Raphaëlle, Ars, Elisabet, Brackman, Damien, Dantal, Jacques, Eckart, Philippe, Gigante, Maddalena, Lipska, Beata S., Liutkus, Aurélia, Megarbane, André, Mohsin, Nabil, Ozaltin, Fatih, Saleem, Moin A., Schaefer, Franz, Soulami, Kenza, Torra, Roser, Garcelon, Nicolas, Mollet, Géraldine, Dahan, Karin, Antignac, Corinne

“…ABSTRACT Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal‐recessive form of nonsyndromic steroid‐resistant nephrotic syndrome in…”
Get full text

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism by Krawczyk, Malgorzata A., Styczewska, Malgorzata, Birkholz-Walerzak, Dorota, Iliszko, Mariola, Lipska-Zietkiewicz, Beata S., Kosiak, Wojciech, Irga-Jaworska, Ninela, Izycka-Swieszewska, Ewa, Bien, Ewa

“…Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the gene,…”
Get full text

Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome by Gawrychowska, Ada, Iżycka-Świeszewska, Ewa, Lipska-Ziętkiewicz, Beata S, Kuleszo, Dominika, Bautembach-Minkowska, Joanna, Łosin, Marcin, Stefanowicz, Joanna

“…This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient…”
Get full text

Glomerulopathy in patients with distal duplication of chromosome 6p by Jankauskienė, Augustina, Koczkowska, Magdalena, Bjerre, Anna, Bernaciak, Joanna, Schaefer, Franz, Lipska-Ziętkiewicz, Beata S

“…Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide…”
Get full text

NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli by Lipska-Ziętkiewicz, Beata S., Schaefer, Franz

Get full text

Genotype-phenotype associations in WT1 glomerulopathy by Lipska, Beata S, Ranchin, Bruno, Iatropoulos, Paraskevas, Gellermann, Jutta, Melk, Anette, Ozaltin, Fatih, Caridi, Gianluca, Seeman, Tomas, Tory, Kalman, Jankauskiene, Augustina, Zurowska, Aleksandra, Szczepanska, Maria, Wasilewska, Anna, Harambat, Jerome, Trautmann, Agnes, Peco-Antic, Amira, Borzecka, Halina, Moczulska, Anna, Saeed, Bassam, Bogdanovic, Radovan, Kalyoncu, Mukaddes, Simkova, Eva, Erdogan, Ozlem, Vrljicak, Kristina, Teixeira, Ana, Azocar, Marta, Schaefer, Franz

“…WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype…”
Get more information

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife by Żurowska, Aleksandra M, Bielska, Olga, Daca-Roszak, Patrycja, Jankowski, Maciej, Szczepańska, Maria, Roszkowska-Bjanid, Dagmara, Kuźma-Mroczkowska, Elżbieta, Pańczyk-Tomaszewska, Małgorzata, Moczulska, Anna, Drożdż, Dorota, Hadjipanagi, Despina, Deltas, Constantinos, Ostalska-Nowicka, Danuta, Rabiega, Alina, Taraszkiewicz, Janina, Taranta-Janusz, Katarzyna, Wieczorkiewicz-Plaza, Anna, Jobs, Katarzyna, Mews, Judyta, Musiał, Kinga, Jakubowska, Anna, Nosek, Hanna, Jander, Anna E, Koutsofti, Constantina, Stanisławska-Sachadyn, Anna, Kuleszo, Dominka, Ziętkiewicz, Ewa, Lipska-Ziętkiewicz, Beata S

“…A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically…”
Get more information