Publications by authors named "Anna Poluha"

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Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families.
Meis Omran, Yaxuan Liu, Alexander Sun Zhang, Anna Poluha, Marie Stenmark-Askmalm

Eur J Hum Genet· April 2025

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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Carolina Maya-González, Teresita Díaz De Ståhl, Sandra Wessman, Fulya Taylan, Bianca Tesi, Anna Poluha

Am J Case Rep· December 2024

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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Bianca Tesi, Kristina Lagerstedt Robinson, Frida Abel, Teresita Díaz de Ståhl, Sara Orrsjö, Anna Poluha

Lancet Reg Health Eur· April 2024

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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Anna Poluha

Front Med (Lausanne)· July 2023

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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
Elisabeth Wadensten, Sandra Wessman, Frida Abel, Teresita Diaz De Ståhl, Bianca Tesi, Anna Poluha

JCO Precis Oncol· June 2023

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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha

PLoS One· February 2022

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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Anna Poluha

Fam Cancer· October 2021

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Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.
Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, Marta Kędzior, Beata Anna Nowakowska

Mol Cytogenet· September 2017

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Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
Marta Smyk, Anna Poluha, Ilona Jaszczuk, Magdalena Bartnik, Joanna Bernaciak

Am J Med Genet A· May 2016

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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M Maas, Adam C Shaw, Hennie Bikker, Hermann-Josef Lüdecke, Karin van der Tuin, Anna Poluha

Eur J Med Genet· May 2015

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Melanoma and other malignant skin cancers in psoriatic patients treated with phototherapy. Role of the p16 protein in psoriasis.
Anna Szponar-Bojda, Aldona Pietrzak, Agnieszka Sobczynska-Tomaszewska, Adam Borzecki, Andrzej Kurylcio, Anna Poluha

Folia Histochem Cytobiol· May 2013

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