Search Results - "Szabó, Gabriella P." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies

by Madar, László, Szakszon, Katalin, Pfliegler, György, Szabó, Gabriella P., Brúgós, Boglárka, Ronen, Natali, Papp, Judit, Zahuczky, Katalin, Szakos, Erzsébet, Fekete, György, Oláh, Éva, Koczok, Katalin, Balogh, István
Published in Journal of biotechnology (10.08.2019)

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Journal Article

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome

by Balajthy, András, Somodi, Sándor, Pethő, Zoltán, Péter, Mária, Varga, Zoltán, Szabó, Gabriella P., Paragh, György, Vígh, László, Panyi, György, Hajdu, Péter
Published in Pflügers Archiv (01.08.2016)

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Journal Article

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy

by Koczok, Katalin, Merő, Gabriella, Szabó, Gabriella P., Madar, László, Gombos, Éva, Ajzner, Éva, Mótyán, János András, Hortobágyi, Tibor, Balogh, István
Published in Neuromuscular disorders : NMD (01.02.2018)

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Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients

by Koczok, Katalin, Horváth, László, Korade, Zeljka, Mezei, Zoltán András, Szabó, Gabriella P, Porter, Ned A, Kovács, Eszter, Mirnics, Károly, Balogh, István
Published in Biomolecules (Basel, Switzerland) (17.08.2021)

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Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome

Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome

by Oláh, Anna V., Szabó, Gabriella P., Varga, József, Balogh, Lídia, Csábi, Györgyi, Csákváry, Violetta, Erwa, Wolfgang, Balogh, István
Published in European journal of pediatrics (01.05.2013)

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$Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome$

Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome

by Lőrincz, Hajnalka, Harangi, Mariann, Oláh, Anna V, Szabó, Gabriella P, Fülöp, Péter, Somodi, Sándor, Paragh, György, Seres, Ildikó
Published in Pediatric research (01.05.2015)

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A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

by Szabó, Gabriella P., Oláh, Anna V., Kozak, Libor, Balogh, Erzsébet, Nagy, Andrea, Blahakova, Ivona, Oláh, Éva
Published in European journal of pediatrics (2010)

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Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array‐CGH in three related patients

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array‐CGH in three related patients

by Szabó, Gabriella P., Knegt, Alida C., Ujfalusi, Anikó, Balogh, Erzsébet, Szabó, Tamás, Oláh, Éva
Published in American journal of medical genetics. Part A (01.04.2012)

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Subtelomeric 6.7Mb trisomy 10p and 5.6Mb monosomy 21q detected by FISH and array-CGH in three related patients

Subtelomeric 6.7Mb trisomy 10p and 5.6Mb monosomy 21q detected by FISH and array-CGH in three related patients

by Szabo, Gabriella P, Knegt, Alida C, Ujfalusi, Anikó, Balogh, Erzsébet, Szabo, Tamás, Olah, Éva
Published in American journal of medical genetics. Part A (01.04.2012)

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Journal Article

Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome

Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome

by Koczok, Katalin, V Oláh, Anna, P Szabó, Gabriella, Oláh, Éva, Török, Olga, Balogh, István
Published in Orvosi hetilap (18.10.2015)

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7-Dehydrocholesterol Modifies the Operation of Kv1.3 Channels in T Cells Isolated from Smith-Lemli-Opitz Syndrome Patients

7-Dehydrocholesterol Modifies the Operation of Kv1.3 Channels in T Cells Isolated from Smith-Lemli-Opitz Syndrome Patients

by Balajthy, Andras, Petho, Zoltan, Somodi, Sandor, Varga, Zoltan, Peter, Maria, Vígh, Laszlo, Szabó, Gabriella P., Paragh, Gyorgy, Panyi, Gyorgy, Hajdu, Peter
Published in Biophysical journal (16.02.2016)

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Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)

Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)

by Szakszon, Katalin, Balogh, Erzsébet, Ujfalusi, Anikó, Bessenyei, Beáta, P Szabó, Gabriella, Balogh, István, Oláh, Eva
Published in Orvosi hetilap (02.03.2014)

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Relation between biomarkers and clinical severity in patients with Smithâ[euro]"Lemliâ[euro]"Opitz syndrome

Relation between biomarkers and clinical severity in patients with Smithâ[euro]"Lemliâ[euro]"Opitz syndrome

by Oláh, Anna V, Szabó, Gabriella P, Varga, József, Balogh, Lídia, Csábi, Györgyi, Csákváry, Violetta, Erwa, Wolfgang, Balogh, István
Published in European journal of pediatrics (01.05.2013)

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Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

by Szabó, Gabriella P, Bessenyei, Beáta, Balogh, Erzsébet, Ujfalusi, Anikó, Szakszon, Katalin, Oláh, Eva
Published in Orvosi hetilap (04.07.2010)

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Detection of trisomy 8 and monosomy 7 in chronic granulocytic leukemia and myelodysplastic syndrome by cytogenetic analysis and fluorescence in situ hybridization

Detection of trisomy 8 and monosomy 7 in chronic granulocytic leukemia and myelodysplastic syndrome by cytogenetic analysis and fluorescence in situ hybridization

by Szabó Gabriella, P, Balogh, Erzsébet, Jakab, Zsuzsanna, Germán, Péter, Bodnár, Ferencné, Kiss, Attila, Telek, Béla, Oláh, Eva
Published in Orvosi hetilap (15.12.2002)

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A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplement

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplement

by SZABO, Gabriella P, OLAH, Anna V, KOZAK, Libor, BALOGH, Erzsébet, NAGY, Andrea, BLAHAKOVA, Ivona, OLAH, Eva
Published in European journal of pediatrics (2010)

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Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients

by Szabó, Gabriella P., Knegt, Alida C., Ujfalusi, Anikó, Balogh, Erzsébet, Szabó, Tamás, Oláh, Éva
Published in American Journal of Medical Genetics Part A (01.04.2012)

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