tallózása szerző szerint "Karcagi, Veronika"

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A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.

Haltrich, Irén; Pikó, Henriett; Kiss, Eszter; Tóth, Zsuzsa; Karcagi, Veronika; Fekete, György (2014)

BACKGROUND: Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats. Here we report on a 19 years old boy ...
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern

Hosszúfalusi, Nóra; Karcagi, Veronika; Horvath R; Palik, Éva; Várkonyi, Judit; Rajczy K; Prohászka, Zoltán; Szentirmai C; Karádi, István; Romics, László; Pánczél, Pál (2009)

BACKGROUND: This article presents a clinically characterization of the mitochondrial DNA mutation (A3243G) associated with maternally inherited diabetes and deafness (MIDD) syndrome in two families. METHODS: Six patients ...
Dystrophim gene Analysis in Hungarian Duchenne/Becker muscular dystrophy families - Detection of carrier status in symptomatic and asymptomatic female relatives

Pikó, Henriett; Vancsó V; Nagy, Bálint; Bán, Zoltán; Herczegfalvi, Ágnes; Karcagi, Veronika (2009)

A comprehensive study of the Hungarian Duchenne/Becker muscular dystrophy (DMD/BMD) families is presented. Deletions in the hot spots regions were identified by multiplex PCR, whereas rare Mutations were detected by ...
Hordozóságszűrés Duchenne-/Becker- izomdystrophiával érintett családokban [Carrier detection in families affected by Duchenne/Becker muscular dystrophy]

Pikó, Henriett; Nagy, Bálint; Balog J; Bán, Zoltán; Herczegfalvi, Ágnes; Karcagi, Veronika (2007)

Duchenne/Becker muscular dystrophy is a severe, recessive, X-linked neuromuscular disease with an incidence of 1/3500 (Duchenne type) and 1/30,000 (Becker type) in newborn boys. The gene responsible for the Duchenne/Becker ...
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Bladen CL; Thompson R; Jackson JM; Garland C; Wegel C; Schreiber O; Lusakowska A; Jedrzejowska M; Kostera-Pruszczyk A; van der Pol L; Wadman RI; Gredal O; Karaduman A; Topaloglu H; Yilmaz O; Matyushenko V; Rasic VM; Kosac A; Karcagi, Veronika; Garami M; Herczegfalvi, Ágnes; Monges S; Moresco A; Chertkoff L; Chamova T; Guergueltcheva V; Butoianu N; Craiu D; Korngut L; Campbell C; Haberlova J; Strenkova J; Alejandro M; Jimenez A; Ortiz GG; Enriquez GV; Rodrigues M; Roxburgh R; Dawkins H; Youngs L; Lahdetie J; Angelkova N; Saugier-Veber P; Cuisset JM; Bloetzer C; Jeannet PY; Klein A; Nascimento A; Tizzano E; Salgado D; Mercuri E; Sejersen T; Kirschner J; Rafferty K; Straub V; Bushby K; Verschuuren J; Beroud C; Lochmuller H (2014)

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron ...
Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases

Reményi, Viktória; Inczédy-Farkas, Gabriella; Halmainé Komlósi, Katalin; Horváth, Hilda Rita; Maász, Anita; Janicsek, Ingrid Barbara; Pentelényi, Klára; Gál, Anikó; Karcagi, Veronika; Melegh, Béla; Molnár, Mária Judit (2015)

Abstract Prevalence estimations for mitochondrial disorders still vary widely and only few epidemiologic studies have been carried out so far. With the present work we aim to give a comprehensive overview about frequencies ...

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tallózása szerző szerint "Karcagi, Veronika"

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