Search Results - "Latos-Bieleńska, Anna" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

by Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Sikora, Weronika, Pawlak, Marta, Bukowska‐Olech, Ewelina, Kopaczewski, Bartłomiej, Urzykowska, Agnieszka, Arts, Heleen H., Gotz‐Więckowska, Anna, Grenda, Ryszard, Latos‐Bieleńska, Anna, Glazar, Renata
Published in American journal of medical genetics. Part A (01.10.2022)

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Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

by Hordyjewska‐Kowalczyk, Ewa, Sowińska‐Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Glazar, Renata, Kruczek, Anna, Latos‐Bieleńska, Anna, Tylzanowski, Przemko, Jamsheer, Aleksander
Published in Clinical genetics (01.11.2019)

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Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

by Bonthron, David T, Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Biele ska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P
Published in Nature genetics (01.06.2008)

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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.
Published in Frontiers in genetics (07.07.2022)

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Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

by Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zakutnya, Natalya, Sansovic, Ivona, Lanzoni, Monica, Morris, Joan K.
Published in European journal of medical genetics (01.09.2018)

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Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency

by Jamsheer, Aleksander, Olech, Ewelina M, Kozłowski, Kazimierz, Niedziela, Marek, Sowińska-Seidler, Anna, Obara-Moszyńska, Monika, Latos-Bieleńska, Anna, Karczewski, Marek, Zemojtel, Tomasz
Published in Journal of human genetics (01.07.2016)

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Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

by Sowińska-Seidler, Anna, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Stronka, Michał, Jamsheer, Aleksander
Published in Birth defects research. A Clinical and molecular teratology (01.10.2014)

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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

by Jamsheer, Aleksander, Sowińska-Seidler, Anna, Olech, Ewelina M, Socha, Magdalena, Kozłowski, Kazimierz, Pyrkosz, Antoni, Trzeciak, Tomasz, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna
Published in Journal of human genetics (01.05.2016)

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Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Kuszel, Łukasz, Pietras, Paulina, Leśniczak-Staszak, Marta, Andrusiewicz, Mirosław, Krawczyński, Maciej R, Latos-Bieleńska, Anna, Pawlak, Marta, Grenda, Ryszard, Materna-Kiryluk, Anna, Oud, Machteld M, Szaflarski, Witold
Published in Frontiers in molecular biosciences (2023)

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Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

by Ryżko, Joanna, Walczak-Sztulpa, Joanna, Czubkowski, Piotr, Latos-Bieleńska, Anna, Kowalski, Adam, Stefanowicz, Marek, Jarmużek, Wioletta, Grenda, Ryszard, Pawłowska, Joanna
Published in Frontiers in pediatrics (25.02.2022)

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Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

by Materna-Kiryluk, Anna, Wiśniewska, Katarzyna, Więckowska, Barbara, Wróblewska-Seniuk, Katarzyna, Jaroszewska-Świątek, Beata, Helwich, Ewa, Latos-Bieleńska, Anna
Published in Children (Basel) (25.09.2020)

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Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study

Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study

by Sinclair, Marlene, McCullough, Julie E M, Elliott, David, Braz, Paula, Cavero-Carbonell, Clara, Dornan, Lesley, Jamry-Dziurla, Anna, João Santos, Ana, Latos-Bieleńska, Anna, Machado, Ausenda, Páramo-Rodríguez, Lucía
Published in JMIR pediatrics and parenting (15.11.2021)

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Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly

by Badura-Stronka, Magdalena, Mróz, Dariusz, Beighton, Peter, Łukawiecki, Sebastian, Wicher, Katarzyna, Latos-Bieleńska, Anna, Kozłowski, Kazimierz
Published in Birth defects research. A Clinical and molecular teratology (01.06.2015)

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Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

by Jamsheer, Aleksander, Sowińska, Anna, Trzeciak, Tomasz, Jamsheer-Bratkowska, Małgorzata, Geppert, Anita, Latos-Bieleńska, Anna
Published in Journal of applied genetics (01.11.2012)

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Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM)

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM)

by Materna-Kiryluk, Anna, Więckowska, Barbara, Wiśniewska, Katarzyna, Czyżewska, Małgorzata, Godula-Stuglik, Urszula, Baumert, Małgorzata, Margol, Ryszard, Latos-Bieleńska, Anna
Published in International journal of occupational medicine and environmental health (01.01.2016)

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Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

by Jamsheer, Aleksander, Sowińska, Anna, Simon, Dorota, Jamsheer-Bratkowska, Małgorzata, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Published in BMC genetics (24.01.2013)

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The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate

The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate

by Więckowska, Barbara, Materna-Kiryluk, Anna, Wiśniewska, Katarzyna, Kossowski, Tomasz, Latos-Bieleńska, Anna
Published in Annals of Agricultural and Environmental Medicine (01.01.2015)

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Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

by Engels, Hartmut, Eggermann, Thomas, Caliebe, Almut, Jelska, Anna, Schubert, Regine, Schüler, Herdit M., Panasiuk, Barbara, Zaremba, Jacek, Latos-Bieleńska, Anna, Jakubowski, Lucjusz, Zerres, Klaus P., Schwanitz, Gesa, Midro, Alina T.
Published in American journal of medical genetics. Part A (15.10.2008)

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Human papilloma virus genotyping in women with abnormal cytology

Human papilloma virus genotyping in women with abnormal cytology

by Olejniczak, Tomasz, Rabiega-Gmyrek, Dorota, Niepsuj-Biniaś, Joanna, Jachowski, Paweł, Guglas-Bochyńska, Bogna, Latos- Bieleńska, Anna, Woźniak, Jakub, Opala, Tomasz
Published in Ginekologia polska (01.01.2015)

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Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia

Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia

by Kusz-Zamelczyk, Kamila, Sajek, Marcin, Spik, Anna, Glazar, Renata, Jędrzejczak, Piotr, Latos-Bieleńska, Anna, Kotecki, Maciej, Pawelczyk, Leszek, Jaruzelska, Jadwiga
Published in Journal of medical genetics (01.03.2013)

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