What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature

por Pinti, Eva, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Publicado no BMC Pediatr (2020)

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

por Haltrich, Irén, Pikó, Henriett, Kiss, Eszter, Tóth, Zsuzsa, Karcagi, Veronika, Fekete, György
Publicado em 2014

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

por Pinti, Eva, Nemeth, Krisztina, Staub, Krisztina, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Publicado no BMC Pediatr (2021)

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

por Beke, Artur, Piko, Henriett, Haltrich, Iren, Karcagi, Veronika, Rigo, Janos, Molnar, Maria Judit, Fekete, György
Publicado no BMC Med Genet (2018)

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

por Beke, Artur, Piko, Henriett, Haltrich, Iren, Csomor, Judit, Matolcsy, Andras, Fekete, György, Rigo, Janos, Karcagi, Veronika
Publicado em 2013

Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene

por David, Dezső, Almeida, Lígia S., Maggi, Maristella, Araújo, Carlos, Imreh, Stefan, Valentini, Giovanna, Fekete, György, Haltrich, Irén
Publicado no JIMD Rep (2015)

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

por Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias
Publicado no Clin Epigenetics (2020)

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

por Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas
Publicado no BMC Med Genet (2016)

Evaluation of Organic Wastes as Substrates for Rearing Zophobas morio, Tenebrio molitor, and Acheta domesticus Larvae as Alternative Feed Supplements

por Harsányi, Endre, Juhász, Csaba, Kovács, Elza, Huzsvai, László, Pintér, Richárd, Fekete, György, Varga, Zsolt István, Aleksza, László, Gyuricza, Csaba
Publicado no Insects (2020)

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

por Eggermann, Thomas, Brück, Johanna, Knopp, Cordula, Fekete, György, Kratz, Christian, Tasic, Velibor, Kurth, Ingo, Elbracht, Miriam, Eggermann, Katja, Begemann, Matthias
Publicado no J Mol Med (Berl) (2020)

Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases

por Komlósi, Katalin, Maász, Anita, Kisfali, Péter, Hadzsiev, Kinga, Bene, Judit, Melegh, Béla I, Melegh, Béla, Ablonczy, Mária, Németh, Krisztina, Fekete, György
Publicado em 2012

Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases

por Komlósi, Katalin, Maász, Anita, Kisfali, Péter, Hadzsiev, Kinga, Bene, Judit, Melegh, Béla I., Ablonczy, Mária, Németh, Krisztina, Fekete, György, Melegh, Béla
Publicado em 2012

Complex X chromosome rearrangement associated with multiorgan autoimmunity

por Haltrich, Irén, Pikó, Henriett, Pamjav, Horolma, Somogyi, Anikó, Völgyi, Antónia, David, Dezső, Beke, Artúr, Garamvölgyi, Zoltán, Kiss, Eszter, Karcagi, Veronika, Fekete, György
Publicado no Mol Cytogenet (2015)

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

por Büki, Gergely, Zsigmond, Anna, Czakó, Márta, Szalai, Renáta, Antal, Gréta, Farkas, Viktor, Fekete, György, Nagy, Dóra, Széll, Márta, Tihanyi, Marianna, Melegh, Béla, Hadzsiev, Kinga, Bene, Judit
Publicado no Front Genet (2021)

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

por Daiger, Stephen P., Chakraborty, Ranajit, Reed, Lori, Fekete, György, Schuler, Dezso, Berenssi, György, Nasz, Istvan, Brdička, Radim, Kamarýt, Jaromir, Pijáčková, Anna, Moore, Sharon, Sullivan, Susan, Woo, Savio L. C.
Publicado em 1989

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

por Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas
Publicado no Orphanet J Rare Dis (2021)

A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics

por Doleschall, Márton, Luczay, Andrea, Koncz, Klára, Hadzsiev, Kinga, Erhardt, Éva, Szilágyi, Ágnes, Doleschall, Zoltán, Németh, Krisztina, Török, Dóra, Prohászka, Zoltán, Gereben, Balázs, Fekete, György, Gláz, Edit, Igaz, Péter, Korbonits, Márta, Tóth, Miklós, Rácz, Károly, Patócs, Attila
Publicado no Eur J Hum Genet (2017)

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

por Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Publicado em 2004