Works matching AU Rydzanicz, Malgorzata

Results: 106

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.

Published in:

Genes, 2024, v. 15, n. 2, p. 256, doi. 10.3390/genes15020256

By:

Bodetko, Aleksandra;
Chrzanowska, Joanna;
Rydzanicz, Malgorzata;
Borys-Iwanicka, Agnieszka;
Karpinski, Pawel;
Bladowska, Joanna;
Ploski, Rafal;
Smigiel, Robert

Publication type:

Article

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.

Published in:

Genes, 2023, v. 14, n. 3, p. 563, doi. 10.3390/genes14030563

By:

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.

Publication type:

Article

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.

Published in:

2022

By:

Stembalska, Agnieszka;
Rydzanicz, Małgorzata;
Klaniewska, Magdalena;
Dudarewicz, Lech;
Pollak, Agnieszka;
Biela, Mateusz;
Stawinski, Piotr;
Ploski, Rafal;
Smigiel, Robert

Publication type:

Case Study

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Published in:

2022

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

Publication type:

Case Study

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.

Published in:

2022

By:

Biela, Mateusz;
Rydzanicz, Malgorzata;
Jankowska, Agnieszka;
Szlagatys-Sidorkiewicz, Agnieszka;
Rozensztrauch, Anna;
Płoski, Rafał;
Smigiel, Robert

Publication type:

Case Study

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Published in:

Genes, 2021, v. 12, n. 7, p. 1078, doi. 10.3390/genes12071078

By:

Stembalska, Agnieszka;
Rydzanicz, Małgorzata;
Pollak, Agnieszka;
Kostrzewa, Grazyna;
Stawinski, Piotr;
Biela, Mateusz;
Ploski, Rafal;
Smigiel, Robert

Publication type:

Article

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.

Published in:

Genes, 2021, v. 12, n. 4, p. 594, doi. 10.3390/genes12040594

By:

Slezak, Ryszard;
Smigiel, Robert;
Obersztyn, Ewa;
Pollak, Agnieszka;
Dawidziuk, Mateusz;
Wiszniewski, Wojciech;
Bekiesinska-Figatowska, Monika;
Rydzanicz, Malgorzata;
Ploski, Rafal;
Gawlinski, Pawel

Publication type:

Article

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.

Published in:

Genes, 2021, v. 12, n. 3, p. 350, doi. 10.3390/genes12030350

By:

Wolańska, Ewelina;
Pollak, Agnieszka;
Rydzanicz, Małgorzata;
Pesz, Karolina;
Kłaniewska, Magdalena;
Rozensztrauch, Anna;
Skiba, Paweł;
Stawiński, Piotr;
Płoski, Rafał;
Śmigiel, Robert;
Ferec, Claude

Publication type:

Article

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Published in:

Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959

By:

Tracewska, Anna M.;
Kocyła-Karczmarewicz, Beata;
Rafalska, Agnieszka;
Murawska, Joanna;
Jakubaszko-Jablonska, Joanna;
Rydzanicz, Małgorzata;
Stawiński, Piotr;
Ciara, Elżbieta;
Khan, Muhammad Imran;
Henkes, Arjen;
Hoischen, Alexander;
Gilissen, Christian;
van de Vorst, Maartje;
Cremers, Frans P. M.;
Płoski, Rafał;
Chrzanowska, Krystyna H.

Publication type:

Article

Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing.

Published in:

Polish Archives of Internal Medicine, 2018, v. 128, n. 12, p. 721, doi. 10.20452/pamw.4366

By:

Stępień-Wojno, Małgorzata;
Ponińska, Joanna;
Rydzanicz, Małgorzata;
Bilińska, Maria;
Truszkowska, Grażyna;
Baranowski, Rafał;
Lutyńska, Anna;
Biernacka, Elżbieta K.;
Stępińska, Janina;
Kowalik, Ilona;
Płoski, Rafał;
Bilińska, Zofia T.

Publication type:

Article

Induction of expression of aryl hydrocarbon receptor-dependent genes in human HepaRG cell line modified by shRNA and treated with β-naphthoflavone.

Published in:

Molecular & Cellular Biochemistry, 2017, v. 425, n. 1/2, p. 59, doi. 10.1007/s11010-016-2862-3

By:

Brauze, Damian;
Zawierucha, Piotr;
Kiwerska, Katarzyna;
Bednarek, Kinga;
Oleszak, Martyna;
Rydzanicz, Malgorzata;
Jarmuz-Szymczak, Malgorzata

Publication type:

Article

Genetyka słuchu - co nowego?

Published in:

Advances in Head & Neck Surgery / Postępy w Chirurgii Głowy i Szyi, 2015, v. 14, n. 2, p. 25

By:

Szyfter, Krzysztof;
Rydzanicz, Małgorzata;
Gawęcki, Wojciech;
Wróbel, Maciej;
Szyfter-Harris, Joanna

Publication type:

Article

Search for Viral Infections in Cerebrospinal Fluid From Patients With Autoimmune Encephalitis.

Published in:

Open Forum Infectious Diseases, 2020, v. 7, n. 11, p. 1, doi. 10.1093/ofid/ofaa468

By:

Perlejewski, Karol;
Pawełczyk, Agnieszka;
Bukowska-Ośko, Iwona;
Rydzanicz, Małgorzata;
Dzieciątkowski, Tomasz;
Paciorek, Marcin;
Makowiecki, Michał;
Cortés, Kamila Caraballo;
Grochowska, Marta;
Radkowski, Marek;
Laskus, Tomasz

Publication type:

Article

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 869, doi. 10.3390/brainsci10110869

By:

Machnikowska-Sokołowska, Magdalena;
Pilch, Jacek;
Paprocka, Justyna;
Rydzanicz, Małgorzata;
Pollak, Agnieszka;
Kosińska, Joanna;
Gasperowicz, Piotr;
Gruszczyńska, Katarzyna;
Emich-Widera, Ewa;
Płoski, Rafał

Publication type:

Article

Metagenomic search of viral coinfections in herpes simplex encephalitis patients.

Published in:

Journal of NeuroVirology, 2023, v. 29, n. 5, p. 588, doi. 10.1007/s13365-023-01157-9

By:

Perlejewski, Karol;
Radkowski, Marek;
Rydzanicz, Małgorzata;
Dzieciątkowski, Tomasz;
Silling, Steffi;
Wieczorek, Magdalena;
Makowiecki, Michał;
Horban, Andrzej;
Laskus, Tomasz

Publication type:

Article

Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes.

Published in:

Diabetologia, 2024, v. 67, n. 2, p. 312, doi. 10.1007/s00125-023-06047-7

By:

Gajecka, Marzena;
Gutaj, Pawel;
Jaskiewicz, Katarzyna;
Rydzanicz, Malgorzata;
Szczapa, Tomasz;
Kaminska, Dorota;
Kosewski, Grzegorz;
Przyslawski, Juliusz;
Ploski, Rafal;
Wender-Ozegowska, Ewa

Publication type:

Article

Influence of genetic polymorphisms on biomarkers of exposure and effects in children living in Upper Silesia.

Published in:

Mutagenesis, 2013, v. 28, n. 5, p. 591, doi. 10.1093/mutage/get037

By:

Mielzynska-Svach, Danuta;
Blaszczyk, Ewa;
Butkiewicz, Dorota;
Durzynska, Julia;
Rydzanicz, Malgorzata

Publication type:

Article

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1152, doi. 10.1093/hmg/ddac276

By:

Dubey, Abhishek Anil;
Krygier, Magdalena;
Szulc, Natalia A;
Rutkowska, Karolina;
Kosińska, Joanna;
Pollak, Agnieszka;
Rydzanicz, Małgorzata;
Kmieć, Tomasz;
Mazurkiewicz-Bełdzińska, Maria;
Pokrzywa, Wojciech;
Płoski, Rafał

Publication type:

Article

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3669, doi. 10.1093/hmg/ddy277

By:

Smigiel, Robert;
Sherman, Diane L;
Rydzanicz, Małgorzata;
Walczak, Anna;
Mikolajkow, Dorota;
Krolak-Olejnik, Barbara;
Kosińska, Joanna;
Gasperowicz, Piotr;
Biernacka, Anna;
Stawinski, Piotr

Publication type:

Article

A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428

By:

Bzdęga, Katarzyna;
Biela, Mateusz;
Deutsch, Gail H.;
Kitzmiller, Joseph A.;
Rydzanicz, Małgorzata;
Płoski, Rafał;
Whitsett, Jeffrey A.;
Śmigiel, Robert;
Karolak, Justyna A.

Publication type:

Article

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 468, doi. 10.1111/cge.13822

By:

Jezela‐Stanek, Aleksandra;
Szczepanik, Elżbieta;
Mierzewska, Hanna;
Rydzanicz, Małgorzata;
Rutkowska, Karolina;
Knaus, Alexej;
Śmigiel, Robert;
Stępniak, Iwona;
Markiewicz, Michał G.;
Boniel, Snir;
Krawitz, Peter;
Płoski, Rafał

Publication type:

Article

FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 468, doi. 10.1111/cge.13614

By:

Krenke, Katarzyna;
Szczałuba, Krzysztof;
Bielecka, Teresa;
Rydzanicz, Małgorzata;
Lange, Joanna;
Koppolu, Agnieszka;
Płoski, Rafał

Publication type:

Article

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 371, doi. 10.1111/cge.13611

By:

Jakubiuk‐Tomaszuk, Anna;
Murcia Pienkowski, Victor;
Zietkiewicz, Szymon;
Rydzanicz, Małgorzata;
Kosińska, Joanna;
Stawiński, Piotr;
Szumiński, Michał;
Płoski, Rafał

Publication type:

Article

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Published in:

Clinical Genetics, 2019, v. 96, n. 3, p. 274, doi. 10.1111/cge.13592

By:

Paprocka, Justyna;
Jezela‐Stanek, Aleksandra;
Koppolu, Agniesz;
Rydzanicz, Małgorzata;
Kosińska, Joanna;
Stawiński, Piotr;
Płoski, Rafał

Publication type:

Article

Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy.

Published in:

2019

By:

Jezela‐Stanek, Aleksandra;
Walczak, Anna;
Łaźniewski, Michał;
Kosińska, Joanna;
Stawiński, Piotr;
Murcia Pienkowski, Victor;
Biernacka, Anna;
Rydzanicz, Małgorzata;
Kostrzewa, Grażyna;
Krajewski, Paweł;
Plewczyński, Dariusz;
Płoski, Rafał

Publication type:

Letter to the Editor

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 415, doi. 10.1111/cge.13489

By:

Krygier, Magdalena;
Sławek, Jarosław;
Krawczyńska, Natalia;
Kwarciany, Mariusz;
Karaszewski, Bartosz;
Wasilewska, Krystyna;
Kosińska, Joanna;
Stawinski, Piotr;
Płoski, Rafał;
Rydzanicz, Małgorzata;
Pienkowski, Victor Murcia;
Zielonka, Daniel;
Rudzińska‐Bar, Monika;
Boczarska‐Jedynak, Magdalena;
Limon, Janusz

Publication type:

Article

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.

Published in:

Clinical Genetics, 2018, v. 94, n. 6, p. 581, doi. 10.1111/cge.13450

By:

Szczałuba, Krzysztof;
Chmielewska, Joanna J.;
Sokolowska, Olga;
Rydzanicz, Małgorzata;
Szymańska, Krystyna;
Feleszko, Wojciech;
Włodarski, Paweł;
Biernacka, Anna;
Murcia Pienkowski, Victor;
Walczak, Anna;
Bargeł, Elżbieta;
Królewczyk, Katarzyna;
Nowacka, Agata;
Stawiński, Piotr;
Nowis, Dominika;
Dziembowska, Magdalena;
Płoski, Rafał

Publication type:

Article

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 381, doi. 10.1111/cge.13410

By:

Pilch, Jacek;
Koppolu, Agnieszka A.;
Walczak, Anna;
Murcia Pienkowski, Victor A.;
Biernacka, Anna;
Skiba, Paweł;
Machnik‐Broncel, Joanna;
Gasperowicz, Piotr;
Kosińska, Joanna;
Rydzanicz, Małgorzata;
Emich‐Widera, Ewa;
Płoski, Rafał

Publication type:

Article

The most frequent Polish mutations are not susceptibility factors for tobacco-related cancers.

Published in:

2021

By:

Podralska, Marta;
Dzikiewicz-Krawczyk, Agnieszka;
Mosor, Maria;
Żurawek, Magdalena;
Iżykowska, Katarzyna;
Słomski, Ryszard;
Rydzanicz, Małgorzata;
Gabryel, Piotr;
Dyszkiewicz, Wojciech;
Ziółkowska-Suchanek, Iwona

Publication type:

journal article

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1482, doi. 10.1002/ajmg.a.62670

By:

Rydzanicz, Małgorzata;
Glinkowski, Wojciech;
Walczak, Anna;
Koppolu, Agnieszka;
Kostrzewa, Grażyna;
Gasperowicz, Piotr;
Pollak, Agnieszka;
Stawiński, Piotr;
Płoski, Rafał

Publication type:

Article

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3384, doi. 10.1002/ajmg.a.62455

By:

Rydzanicz, Małgorzata;
Zwoliński, Piotr;
Gasperowicz, Piotr;
Pollak, Agnieszka;
Kostrzewa, Grażyna;
Walczak, Anna;
Konarzewska, Magdalena;
Płoski, Rafał

Publication type:

Article

A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2382, doi. 10.1002/ajmg.a.40431

By:

Midro, Alina T.;
Stasiewicz‐Jarocka, Beata;
Borys, Jan;
Kozłowski, Kazimierz;
Skotnicka, Bożena;
Tarasów, Eugeniusz;
Hubert, Ewa;
Konstantynowicz, Jerzy;
Panasiuk, Barbara;
Rydzanicz, Małgorzata;
Pollak, Agnieszka;
Stawiński, Piotr;
Skowroński, Rafał;
Płoski, Rafał

Publication type:

Article

Evidence for Troponin C (TNNC1) as a Gene for Autosomal Recessive Restrictive Cardiomyopathy with Fatal Outcome in Infancy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3241, doi. 10.1002/ajmg.a.37860

By:

Ploski, Rafal;
Rydzanicz, Malgorzata;
Ksiazczyk, Tomasz M.;
Franaszczyk, Maria;
Pollak, Agnieszka;
Kosinska, Joanna;
Michalak, Ewa;
Stawinski, Piotr;
Ziolkowska, Lidia;
Bilinska, Zofia T.;
Werner, Bozena

Publication type:

Article

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2322, doi. 10.1002/ajmg.a.37832

By:

Szczałuba, Krzysztof;
Brzezinska, Monika;
Kot, Justyna;
Rydzanicz, Małgorzata;
Walczak, Anna;
Stawiński, Piotr;
Werner, Bożena;
Płoski, Rafał

Publication type:

Article

Correction to: Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study.

Published in:

2021

By:

Szpisjak, Laszlo;
Szaraz, Gabor;
Salamon, Andras;
Nemeth, Viola L.;
Szepfalusi, Noemi;
Veres, Gabor;
Kincses, Balint;
Maroti, Zoltan;
Kalmar, Tibor;
Rydzanicz, Malgorzata;
Ploski, Rafal;
Klivenyi, Peter;
Zadori, Denes

Publication type:

corrected article

Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study.

Published in:

2021

By:

Szpisjak, Laszlo;
Szaraz, Gabor;
Salamon, Andras;
Nemeth, Viola L.;
Szepfalusi, Noemi;
Veres, Gabor;
Kincses, Balint;
Maroti, Zoltan;
Kalmar, Tibor;
Rydzanicz, Malgorzata;
Ploski, Rafal;
Klivenyi, Peter;
Zadori, Denes

Publication type:

journal article

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Published in:

Molecular Vision, 2021, v. 27, p. 457

By:

Tracewska, Anna M.;
Kocyła-Karczmarewicz, Beata;
Rafalska, Agnieszka;
Murawska, Joanna;
Jakubaszko-Jabłońska, Joanna;
Rydzanicz, Małgorzata;
Stawiński, Piotr;
Ciara, Elżbieta;
Lipska-Ziętkiewicz, Beata S.;
Khan, Muhammad Imran;
Cremers, Frans P. M.;
Płoski, Rafał;
Chrzanowska, Krystyna H.

Publication type:

Article

Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.

Published in:

Cancer Science, 2007, v. 98, n. 11, p. 1701, doi. 10.1111/j.1349-7006.2007.00594.x

By:

Ziólkowska, Iwona;
Mosor, Maria;
Wierzbicka, Malgorzata;
Rydzanicz, Malgorzata;
Pernak-Schwarz, Monika;
Nowak, Jerzy

Publication type:

Article

Comparison of rehabilitation results in deaf patients with and without genetically related hearing loss.

Published in:

Cochlear Implants International: An Interdisciplinary Journal, 2008, v. 9, n. 3, p. 132, doi. 10.1179/cim.2008.9.3.132

By:

WRÓBEL, MACIEJ;
MAGIERSKA-KRZYSZTON, MAGDALENA;
SZYFTER, KRZYSZTOF;
MIȨTKIEWSKA, DOROTA;
SZYFTER, WITOLD;
RYDZANICZ, MAŁGORZATA;
KARLIK, MICHAŁ

Publication type:

Article

SDF1-3'A Gene Polymorphism is Associated with Laryngeal Cancer.

Published in:

Pathology & Oncology Research, 2010, v. 16, n. 2, p. 223, doi. 10.1007/s12253-009-9214-5

By:

Kruszyna, Łukasz;
Lianeri, Margarita;
Rydzanicz, Małgorzata;
Szyfter, Krzysztof;
Jagodziński, Paweł

Publication type:

Article

THE MED13L HAPLOINSUFFICIENCY SYNDROME ASSOCIATED WITH DE NOVO NONSENSE VARIANT (P.GLN1981*).

Published in:

Journal of Mother & Child, 2020, v. 24, n. 3, p. 32, doi. 10.34763/jmotherandchild.20202403.2021.d-20-00003

By:

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;
Rzońca-Niewczas, Sylwia Olimpia

Publication type:

Article

Author Correction: Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta.

Published in:

2020

By:

Nowak, Robert M.;
Jastrzębski, Jan P.;
Kuśmirek, Wiktor;
Sałamatin, Rusłan;
Rydzanicz, Małgorzata;
Sobczyk-Kopcioł, Agnieszka;
Sulima-Celińska, Anna;
Paukszto, Łukasz;
Makowczenko, Karol G.;
Płoski, Rafał;
Tkach, Vasyl V.;
Basałaj, Katarzyna;
Młocicki, Daniel

Publication type:

Correction Notice

Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta.

Published in:

Scientific Data, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41597-019-0311-3

By:

Nowak, Robert M.;
Jastrzębski, Jan P.;
Kuśmirek, Wiktor;
Sałamatin, Rusłan;
Rydzanicz, Małgorzata;
Sobczyk-Kopcioł, Agnieszka;
Sulima-Celińska, Anna;
Paukszto, Łukasz;
Makowczenko, Karol G.;
Płoski, Rafał;
Tkach, Vasyl V.;
Basałaj, Katarzyna;
Młocicki, Daniel

Publication type:

Article

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1107460

By:

Kulikowska, Joanna;
Jakubiuk-Tomaszuk, Anna;
Rydzanicz, Małgorzata;
Płoski, Rafał;
Kochanowicz, Jan;
Kulakowska, Alina;
Kapica-Topczewska, Katarzyna

Publication type:

Article

Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169007

By:

Franaszczyk, Maria;
Chmielewski, Przemyslaw;
Truszkowska, Grazyna;
Stawinski, Piotr;
Michalak, Ewa;
Rydzanicz, Malgorzata;
Sobieszczanska-Malek, Malgorzata;
Pollak, Agnieszka;
Szczygieł, Justyna;
Kosinska, Joanna;
Parulski, Adam;
Stoklosa, Tomasz;
Tarnowska, Agnieszka;
Machnicki, Marcin M.;
Foss-Nieradko, Bogna;
Szperl, Malgorzata;
Sioma, Agnieszka;
Kusmierczyk, Mariusz;
Grzybowski, Jacek;
Zielinski, Tomasz

Publication type:

Article

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0166618

By:

Pollak, Agnieszka;
Lechowicz, Urszula;
Kędra, Anna;
Stawiński, Piotr;
Rydzanicz, Małgorzata;
Furmanek, Mariusz;
Brzozowska, Małgorzata;
Mrówka, Maciej;
Skarżyński, Henryk;
Skarżyński, Piotr H.;
Ołdak, Monika;
Płoski, Rafał

Publication type:

Article

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Published in:

2016

By:

Pronicka, Ewa;
Piekutowska-Abramczuk, Dorota;
Ciara, Elżbieta;
Trubicka, Joanna;
Rokicki, Dariusz;
Karkucińska-Więckowska, Agnieszka;
Pajdowska, Magdalena;
Jurkiewicz, Elżbieta;
Halat, Paulina;
Kosińska, Joanna;
Pollak, Agnieszka;
Rydzanicz, Małgorzata;
Stawinski, Piotr;
Pronicki, Maciej;
Krajewska-Walasek, Małgorzata;
Płoski, Rafał

Publication type:

journal article

Further evaluation of differential expression of keratoconus candidate genes in human corneas.

Published in:

PeerJ, 2020, p. 1, doi. 10.7717/peerj.9793

By:

Karolak, Justyna A.;
Ginter-Matuszewska, Barbara;
Tomela, Katarzyna;
Kabza, Michal;
Nowak-Malczewska, Dorota M.;
Rydzanicz, Malgorzata;
Polakowski, Piotr;
Szaflik, Jacek P.;
Gajecka, Marzena

Publication type:

Article

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.

Published in:

PeerJ, 2020, p. 1, doi. 10.7717/peerj.8982

By:

Karolak, Justyna A.;
Gambin, Tomasz;
Rydzanicz, Malgorzata;
Polakowski, Piotr;
Ploski, Rafal;
Szaflik, Jacek P.;
Gajecka, Marzena

Publication type:

Article

Clinical heterogeneity of polish patients with KAT6B–related disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265

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

Publication type:

Article