Anna Poluha

Characterisation of heritable TP53-related cancer syndrome in Sweden: a nationwide study of genotype-phenotype correlations in 90 families

Omran, Meis; Liu, Yaxuan; Sun Zhang, Alexander; Poluha, Anna et al.

Ingår i European Journal of Human Genetics, s. 513-522, 2025

• DOI för Characterisation of heritable TP53-related cancer syndrome in Sweden: a nationwide study of genotype-phenotype correlations in 90 families
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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications

Maya-González, Carolina; Díaz De Ståhl, Teresita; Wessman, Sandra; Taylan, Fulya et al.

Ingår i American Journal of Case Reports, 2024

• DOI för Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
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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

Tesi, Bianca; Lagerstedt Robinson, Kristina; Abel, Frida; Díaz de Ståhl, Teresita et al.

Ingår i The Lancet Regional Health, 2024

• DOI för Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors: a nationwide, prospective Swedish study
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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Wadensten, Elisabeth; Wessman, Sandra; Abel, Frida; De Ståhl, Teresita Diaz et al.

Ingår i JCO PRECISION ONCOLOGY, 2023

• DOI för Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
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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

Maya-Gonzalez, Carolina; Wessman, Sandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya et al.

Ingår i Frontiers in Medicine, 2023

• DOI för 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
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Characterisation of heritable TP53-related cancer syndrome in Sweden: a nationwide study of genotype-phenotype correlations in 90 families

Omran, Meis; Liu, Yaxuan; Sun Zhang, Alexander; Poluha, Anna et al.

Ingår i European Journal of Human Genetics, s. 513-522, 2025

• DOI för Characterisation of heritable TP53-related cancer syndrome in Sweden: a nationwide study of genotype-phenotype correlations in 90 families
• Ladda ner fulltext (pdf) av Characterisation of heritable TP53-related cancer syndrome in Sweden: a nationwide study of genotype-phenotype correlations in 90 families

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications

Maya-González, Carolina; Díaz De Ståhl, Teresita; Wessman, Sandra; Taylan, Fulya et al.

Ingår i American Journal of Case Reports, 2024

• DOI för Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
• Ladda ner fulltext (pdf) av Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors: a nationwide, prospective Swedish study

Tesi, Bianca; Lagerstedt Robinson, Kristina; Abel, Frida; Díaz de Ståhl, Teresita et al.

Ingår i The Lancet Regional Health, 2024

• DOI för Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors: a nationwide, prospective Swedish study
• Ladda ner fulltext (pdf) av Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors: a nationwide, prospective Swedish study

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Wadensten, Elisabeth; Wessman, Sandra; Abel, Frida; De Ståhl, Teresita Diaz et al.

Ingår i JCO PRECISION ONCOLOGY, 2023

• DOI för Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
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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

Maya-Gonzalez, Carolina; Wessman, Sandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya et al.

Ingår i Frontiers in Medicine, 2023

• DOI för 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
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A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

Lagerstedt-Robinson, Kristina; Baranowska Korberg, Izabella; Tsiaprazis, Stefanos; Bjorck, Erik et al.

Ingår i PLOS ONE, 2022

• DOI för A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Hettmer, Simone; Dachy, Guillaume; Seitz, Guido; Agaimy, Abbas et al.

Ingår i Familial Cancer, s. 327-336, 2021

• DOI för Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
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