Publications by authors named "Anna Zsigmond"

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Heterogeneity of Orodental Features in a Family with Noonan Syndrome.
Gréta Antal, Laura Csabai, Anna Zsigmond, Ildiko Szanto, Kinga Hadzsiev

Int J Mol Sci· November 2025

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Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.
Márta Czakó, András Szabó, Ágnes Till, Anna Zsigmond, Kinga Hadzsiev

Int J Mol Sci· September 2025

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Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.
Gréta Antal, Anna Zsigmond, Ágnes Till, András Szabó, Anita Maász

Int J Mol Sci· October 2024

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Nimodipine inhibits spreading depolarization, ischemic injury, and neuroinflammation in mouse live brain slice preparations.
Rita Frank, Péter Archibald Szarvas, István Pesti, Anna Zsigmond, Róbert Berkecz

Eur J Pharmacol· August 2024

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Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.
Gréta Antal, Anna Zsigmond, Ágnes Till, Eniko Orsi, Ildiko Szanto

Pathol Oncol Res· May 2024

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Case Report of Suspected Gonadal Mosaicism in -Related Neurodevelopmental Disorder.
Anna Zsigmond, Ágnes Till, Judit Bene, Márta Czakó, Alexandra Mikó

Int J Mol Sci· May 2024

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Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.
Kinga Hadzsiev, Márta Hegyi, András Fogarasi, Tímea Bodó-Baltavári, Anna Zsigmond

Neuropediatrics· October 2023

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Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.
Kinga Amália Sándor-Bajusz, Tímea Dergez, Edit Molnár, Kinga Hadzsiev, Ágnes Till, Anna Zsigmond

Front Psychol· February 2023

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[Neurofibromatosis-1 microdeletion syndrome.].
Gergely Büki, Ágnes Till, Anna Zsigmond, Judit Bene, Kinga Hadzsiev

Orv Hetil· December 2022

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TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
Anita Maasz, Kinga Hadzsiev, Reka Ripszam, Anna Zsigmond, Erika Maka

Eur J Med Genet· April 2022

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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical Microdeletions.
Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal

Front Genet· June 2021

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Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.
Márta Czakó, Ágnes Till, Judith Zima, Anna Zsigmond, András Szabó

Front Genet· April 2021

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[Gene testing in Treacher Collins syndrome].
Anna Zsigmond, Ágnes Till, Adrienn Lilla Pintér, Anita Maász, András Szabó

Orv Hetil· December 2020

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