Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

por Jamsheer, Aleksander, Sowińska, Anna, Kaczmarek, Leszek, Latos-Bieleńska, Anna
Publicado 2012

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

por Jamsheer, Aleksander, Sowińska, Anna, Trzeciak, Tomasz, Jamsheer-Bratkowska, Małgorzata, Geppert, Anita, Latos-Bieleńska, Anna
Publicado 2012

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

por Jamsheer, Aleksander, Sowińska, Anna, Simon, Dorota, Jamsheer-Bratkowska, Małgorzata, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Publicado 2013

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

por Jamsheer, Aleksander, Socha, Magdalena, Sowińska-Seidler, Anna, Telega, Kinga, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Publicado 2014

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

por Sowińska-Seidler, Anna, Piwecka, Monika, Olech, Ewelina, Socha, Magdalena, Latos-Bieleńska, Anna, Jamsheer, Aleksander
Publicado 2014

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

por Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Publicado 2010

Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

por Materna-Kiryluk, Anna, Wiśniewska, Katarzyna, Więckowska, Barbara, Wróblewska-Seniuk, Katarzyna, Jaroszewska-Świątek, Beata, Helwich, Ewa, Latos-Bieleńska, Anna
Publicado 2020

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

por Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
Publicado 2016

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

por Materna-Kiryluk, Anna, Wisniewska, Katarzyna, Wieckowska, Barbara, Wierzba, Jolanta, Jazdzewska, Anna, Jaroszewska-Swiatek, Beata, Skotnicka, Kinga, Latos-Bielenska, Anna
Publicado 2021

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

por Ryżko, Joanna, Walczak-Sztulpa, Joanna, Czubkowski, Piotr, Latos-Bieleńska, Anna, Kowalski, Adam, Stefanowicz, Marek, Jarmużek, Wioletta, Grenda, Ryszard, Pawłowska, Joanna
Publicado 2022

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

por Junkiert-Czarnecka, Anna, Pilarska-Deltow, Maria, Bąk, Aneta, Heise, Marta, Latos-Bieleńska, Anna, Zaremba, Jacek, Bartoszewska-Kubiak, Alicja, Haus, Olga
Publicado 2022

The Voice of Parents of Children With a Congenital Anomaly – A EUROlinkCAT Study

por Holm, Kristina Garne, Neville, Amanda Julie, Pierini, Anna, Latos Bielenska, Anna, Jamry-Dziurla, Anna, Cavero-Carbonell, Clara, Garne, Ester, Clemensen, Jane
Publicado 2021

Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)

por Materna-Kiryluk, Anna, Jamsheer, Aleksander, Wisniewska, Katarzyna, Wieckowska, Barbara, Limon, Janusz, Borszewska-Kornacka, Maria, Sawulicka-Oleszczuk, Henryka, Szwalkiewicz-Warowicka, Ewa, Latos-Bielenska, Anna
Publicado 2013

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeopl...

por Sinclair, Marlene, McCullough, Julie EM, Elliott, David, Latos-Bielenska, Anna, Braz, Paula, Cavero-Carbonell, Clara, Jamry-Dziurla, Anna, João Santos, Ana, Páramo-Rodríguez, Lucía
Publicado 2019

FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

por Badura‐Stronka, Magdalena, Śmigiel, Robert, Rutkowska, Karolina, Szymańska, Krystyna, Hirschfeld, Adam Sebastian, Monkiewicz, Michał, Kosińska, Joanna, Wolańska, Ewelina, Rydzanicz, Małgorzata, Latos‐Bieleńska, Anna, Płoski, Rafał
Publicado 2022

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

por Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M., Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M., Schmidts, Miriam, Arts, Heleen H., Latos-Bielenska, Anna, Wasilewska, Anna
Publicado 2020

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

por Badura-Stronka, Magdalena, Winczewska-Wiktor, Anna, Pietrzak, Anna, Hirschfeld, Adam Sebastian, Zemojtel, Tomasz, Wołyńska, Katarzyna, Bednarek-Rajewska, Katarzyna, Seget-Dubaniewicz, Monika, Matheisel, Agnieszka, Latos-Bielenska, Anna, Steinborn, Barbara
Publicado 2021

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

por 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
Publicado 2021

EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies

por Morris, Joan K, Garne, Ester, Loane, Maria, Barisic, Ingeborg, Densem, James, Latos-Bieleńska, Anna, Neville, Amanda, Pierini, Anna, Rankin, Judith, Rissmann, Anke, de Walle, Hermien, Tan, Joachim, Given, Joanne Emma, Claridge, Hugh
Publicado 2021

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

por Wozniak, Anna, Wolnik-Brzozowska, Danuta, Wisniewska, Marzena, Glazar, Renata, Materna-Kiryluk, Anna, Moszura, Tomasz, Badura-Stronka, Magdalena, Skolozdrzy, Joanna, Krawczynski, Maciej R, Zeyland, Joanna, Bobkowski, Waldemar, Slomski, Ryszard, Latos-Bielenska, Anna, Siwinska, Aldona
Publicado 2010