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1

Acid glycosaminoglycan (aGAG) excretion is increased in children with autism spectrum disorder, and it can be controlled by diet

Endreffy, Ildikó, Bjørklund, Geir, Dicső, Ferenc, Urbina, Mauricio A., Endreffy, Emőke

Journal:

Metabolic Brain Disease

Year:

2016

Language:

english

File:

PDF, 376 KB

english, 2016

2

Paraoxonase 1 activities and polymorphisms in autism spectrum disorders

Sergiu P. Paşca, Eleonora Dronca, Bogdan Nemeş, Tamás Kaucsár, Emõke Endreffy, Felicia Iftene, Ileana Benga, Rodica Cornean, Maria Dronca

Journal:

Journal of Cellular and Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 539 KB

english, 2010

3

One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders

Sergiu P. Paşca, Eleonora Dronca, Tamás Kaucsár, Elena C. Crǎciun, Emõke Endreffy, Beatrix K. Ferencz, Felicia Iftene, Ileana Benga, Rodica Cornean, Ruma Banerjee, Maria Dronca

Journal:

Journal of Cellular and Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 772 KB

english, 2009

4

Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families

C. Z. BACHRATI, Z. SOMODI, E. ENDREFFY, T. KALMÁR, I. RASKÓ

Journal:

Annals of Human Genetics

Year:

1998

Language:

english

File:

PDF, 628 KB

english, 1998

5

Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients

Marianna ZSOM, Tibor FÜLÖP, Lajos ZSOM, Ákos BARÁTH, Zoltán MARÓTI, Emőke ENDREFFY

Journal:

Hemodialysis International

Year:

2011

Language:

english

File:

PDF, 89 KB

english, 2011

6

ACE gene polymorphism and renal scarring in primary vesicoureteric reflux

Haszon, Ibolya, Friedman, Aaron, Papp, Ferenc, Bereczki, Csaba, Baji, S&#x000E1, ndor, Bodrogi, Tibor, K&#x000E1, roly, &#x000C9, va, Endreffy, Em&#x000F6, ke, T&#x000FA, ri, S&#x000E1, ndor

Journal:

Pediatric Nephrology

Year:

2002

Language:

english

File:

PDF, 191 KB

english, 2002

7

HLA-DRB1, -DQA1, and -DQB1 Genotypes in Patients With Nasal Polyposis

Etelka Molnar-Gabor, Emöke Endreffy, Ajnacska Rozsasi

Journal:

The Laryngoscope

Year:

2000

Language:

english

File:

PDF, 82 KB

english, 2000

8

Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

Gábor Zsurka, Jenö Ormos, Béla Iványi, Sándor Túri, Emöke Endreffy, Márta Magyari, Sándor Sonkodi, P. Venetianer

Journal:

Year:

1997

Language:

english

File:

PDF, 533 KB

english, 1997

9

Coeliac Disease: Always Something to Discover

VÁrkonyi, M. Boda, E. Endreffy, I., Á.

Journal:

Scandinavian Journal of Gastroenterology

Year:

1998

Language:

english

File:

PDF, 299 KB

english, 1998

10

Plasma α‐L‐fucosidase‐1 in patients with Sjögren's syndrome and other rheumatic disorders

Endreffy, Ildikó, Bjørklund, Geir, Bartha, Attila, Chirumbolo, Salvatore, Dadar, Maryam, Fényi, Ágnes

Journal:

International Journal of Rheumatic Diseases

Year:

2019

Language:

english

File:

PDF, 668 KB

english, 2019

11

Genetic counselling of a male patient with hypohidrotic ectodermal dysplasia

Kov�cs, G, Endreffy, E, Mar�ti, Z

Journal:

Head & Face Medicine

Year:

2012

Language:

english

File:

PDF, 70 KB

english, 2012

12

Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study

Alonso-Perez, Elisa, Suarez-Gestal, Marian, Calaza, Manuel, Ordi-Ros, Josep, Balada, Eva, Bijl, Marc, Papasteriades, Chryssa, Carreira, Patricia, Skopouli, Fotini N., Witte, Torsten, Endreffy, Emöke,

Journal:

Year:

2012

Language:

english

File:

PDF, 165 KB

english, 2012

13

Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients

KATALIN HORVATOVICH, SZILVIA BOKOR, ÁKOS BARÁTH, ANITA MAÁSZ, PÉTER KISFALI, LUCA JÁROMI, NOÉMI POLGÁR, DÉNES TÓTH, JUDIT RÉPÁSY, EMŐKE ENDREFFY, DÉNES MOLNÁR, Dr. BÉLA MELEGH

Journal:

Pediatric Obesity

Year:

2011

Language:

english

File:

PDF, 81 KB

english, 2011

14

HLA class II allele polymorphism in Hungarian patients with primary Sjögren's syndrome

Kovács, A., Endreffy, E., Petri, I., Kovács, L., Pokorny, G.

Journal:

Scandinavian Journal of Rheumatology

Year:

2006

Language:

english

File:

PDF, 184 KB

english, 2006

15

IMPROVEMENT OF DEFECTIVE BACTERICIDAL CAPACITY OF POLYMORPHONUCLEAR LEUKOCYTES BY ISONIAZID IN A CASE OF CHRONIC GRANULOMATOUS DISEASE

Megyeri, P., Endreffy, E.

Journal:

Pediatric Infectious Disease Journal

Year:

1987

File:

PDF, 141 KB

1987

16

Molecular genetic mutation analysis in patients with Fabry disease

A László, E Endreffy, L Török, JK Ploos van Amstel

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

17

Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study

Marian Suarez-Gestal, Manuel Calaza, Emöke Endreffy…

Journal:

Arthritis Research & Therapy

Year:

2009

Language:

english

File:

PDF, 164 KB

english, 2009

18

Molecular genetic studies in monogenic and polygenic human diseases

Endreffy, EmÃ³ke, LÃ¡szlÃ³, A., SzabÃ³, Ã., RomÃ¡n, F., KÃ¼rti, K., KÃ¡lmÃ¡n, M., RaskÃ³, I.

Journal:

Acta Biologica Hungarica

Year:

1997

Language:

english

File:

PDF, 464 KB

english, 1997

19

The outcome of congenital cytomegalovirus infection can not be predicted

R. Pusztai, A. Nagy, E. Endreffy, K. Streitman, S. Pintér

Journal:

Journal of Clinical Virology

Year:

2006

Language:

english

File:

PDF, 145 KB

english, 2006

20

Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients

Endreffy, Ildikó, Bjørklund, Geir, Szerafin, László, Chirumbolo, Salvatore, Urbina, Mauricio A., Endreffy, Emőke

Journal:

Immunologic Research

Year:

2017

Language:

english

File:

PDF, 653 KB

english, 2017

21

Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease

Emőke Endreffy, Zoltán Maróti, Csaba Bereczki, Sándor Túri

Journal:

Molecular and Cellular Probes

Year:

2009

Language:

english

File:

PDF, 171 KB

english, 2009

22

Human cytomegalovirus gB genotype 1 is dominant in congenital infections in South Hungary

Angéla Lukácsi, Béla Taródi, Emöke Endreffy, Ágota Bábinszki, Attila Pál, Rozália Pusztai

Journal:

Journal of Medical Virology

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

23

Molecular and Genetic Aspects of Preeclampsia: State of the Art

Gyula Tálosi, Emöke Endreffy, Sándor Túri, Ilona Németh

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 57 KB

english, 2000

24

Analysis of CAG Repeat Expansion in Huntington’s Disease Gene (IT 15) in a Hungarian Population

Jakab, Katalin, G&aacute, rdi&aacute, n, Gabriella, Endreffy, Em&ocirc, ke, Kalm&aacute, r, Tibor, Bachrati, Csan&aacute, d, V&eacute, csei, L., Rask&oacute, , I.

Journal:

European Neurology

Year:

1999

Language:

english

File:

PDF, 315 KB

english, 1999

25

The effects of vitamin E on tissue oxidation in nephrotoxic (anti-glomerular basement membrane) nephritis

Emőke Endreffy, Sándor Túri, Zoltán Lászik, Csaba Bereczki, Katalin Kása

Journal:

Pediatric Nephrology

Year:

1991

Language:

english

File:

PDF, 1.02 MB

english, 1991

26

Changes in NADPH oxidase mRNA level can be detected in blood at inhaled corticosteroid treated asthmatic children

Zsuzsanna Ökrös, Emoke Endreffy, Zoltan Novak, Zoltan Maroti, Peter Monostori, Ilona Sz. Varga, Agnes Király, Sandor Turi

Journal:

Year:

2012

Language:

english

File:

PDF, 274 KB

english, 2012

27

Roles of Paraoxonase and Oxidative Stress in Adolescents with Uraemic, Essential or Obesity-Induced Hypertension

Bar&aacute, th, &ETH, kos, N&eacute, meth, Ilona, Karg, Eszter, Endreffy, Em&odblac, ke, Bereczki, Csaba, Gell&eacute, n, Bal&aacute, zs, Haszon, Ibolya, T&uacute, ri, S&aacute, ndor

Journal:

Kidney & Blood Pressure Research

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

28

Heme oxygenase 1 expression in young uremic patients on hemodialysis

Zoltán Maróti, Ilona Németh, Sándor Túri, Eszter Karg, Péter Ugocsai, Emőke Endreffy

Journal:

Pediatric Nephrology

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

29

Erythema Nodosum in Association with Celiac Disease

Katalin Bartyik, Ágnes Várkonyi, Ágnes Kirschner, Emöke Endreffy, Sándor Túri, Eszter Karg

Journal:

Pediatric Dermatology

Year:

2004

Language:

english

File:

PDF, 98 KB

english, 2004

30

Bias in association studies of systemic lupus erythematosus susceptibility due to geographical variation in the frequency of a programmed cell death 1 polymorphism across Europe

Ferreiros-Vidal, I, D'Alfonso, S, Papasteriades, C, Skopouli, F N, Marchini, M, Scorza, R, Migliaresi, S, Sebastiani, G D, Endreffy, E, Mavromati, M

Journal:

Genes and Immunity

Year:

2007

Language:

english

File:

PDF, 264 KB

english, 2007

31

Molecular Genetic Diagnostic Difficulties in Two Hungarian Gypsy Samples with Cystic Fibrosis

Endreffy, Emõke, Németh, Krisztína, Fekete, György, Gyurkovits, Kálmán, Stankovics, József, Szabó, Ágnes, Sólyom, Enikõ, Dolinay, Tamás, Raskó, István, László, Aranka

Journal:

International Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 138 KB

english, 2002

32

Late effects on renal glomerular and tubular function in childhood cancer survivors

Edit Bárdi, Anna V. Oláh, Katalin Bartyik, Emőke Endreffy, Csaba Jenei, János Kappelmayer, Csongor Kiss

Journal:

Pediatric Blood & Cancer

Year:

2004

Language:

english

File:

PDF, 135 KB

english, 2004

33

Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies

Á Herczegfalvi, G Tóth, P Gyürüs, É Morava, E Endreffy, F Fodor, F Mechler, A László, I Raskó, B Melegh

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 96 KB

english, 1999

34

Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene

Löfgren, S E, Frostegård, J, Truedsson, L, Pons-Estel, B A, D'Alfonso, S, Witte, T, Lauwerys, B R, Endreffy, E, Kovács, L, Vasconcelos, C, Martins da Silva, B, Kozyrev, S V, Alarcón-Riquelme, M E

Journal:

Genes and Immunity

Year:

2012

Language:

english

File:

PDF, 431 KB

english, 2012

35

Association of Altered RFLP with Coeliac Disease Among Hungarian Families

Endreffy, Emöke, Várkonyi, Ágnes, Kaiser, Gabriella I., Rask, István

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

1992

File:

PDF, 171 KB

1992

36

Frequencies of HLA-DR7 and HLA-DR4 Alleles in Hungarian Asthmatic Children with Mite Allergy

Bede, Olga, Gyurkovits, Kálmán, Endreffy, Emoke

Journal:

International Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

37

How Can the Clinical Laboratory Prepare Against Environmental Contamination and Bioterrorism?

Endreffy, Ildikó, Sved, L., Kopcso, I., Molnar, F.

Journal:

Prehospital and Disaster Medicine

Year:

2003

File:

PDF, 132 KB

2003

38

Impact of single nucleotide polymorphisms of cytarabine metabolic genes on drug toxicity in childhood acute lymphoblastic leukemia

Gabor, Krisztina Mita, Schermann, Geza, Lautner-Csorba, Orsolya, Rarosi, Ferenc, Erdelyi, Daniel J., Endreffy, Emoke, Berek, Krisztina, Bartyik, Katalin, Bereczki, Csaba, Szalai, Csaba, Semsei, Agnes

Journal:

Pediatric Blood & Cancer

Year:

2015

Language:

english

File:

PDF, 540 KB

english, 2015

39

Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension

Baráth, Á., Endreffy, E., Bereczki, Cs., Gellén, B., Szűcs, B., Németh, I., Túri, S.

Journal:

Acta Physiologica Hungarica

Year:

2007

Language:

english

File:

PDF, 167 KB

english, 2007

40

Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: An 11-year follow-up

B Ivanyi, I Haszon, E Endreffy, P Szenohradszky, IB Petri, T Kalmar, RJ Butkowski, AS Charonis, S Turi

Journal:

American Journal of Kidney Diseases

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

41

Glycosaminoglycan excretion in connective tissue diseases

Ildikó Endreffy, F. Dicsö

Journal:

Clinical Biochemistry

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

42

Early detection of Angelman syndrome resulting fromde novopaternal isodisomic 15q UPD and review of comparable cases

Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke

Journal:

Molecular Cytogenetics

Year:

2013

Language:

english

File:

PDF, 365 KB

english, 2013

43

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

L Sztriha, C Panzeri, R Kálmánchey, N Szabó, E Endreffy, S Túri, C Baschirotto, N Bresolin, Z Vekerdy, MT Bassi

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 160 KB

english, 2008

44

Collagen type IV nephropathy: Genetic heterogeneity examinations in affected Hungarian families

Emőke Endreffy, Zoltán Ondrik, Béla Iványi, Zoltán Maróti, Csaba Bereczki, Ibolya Haszon, Zsuzsanna Györke, Endre Worum, Krisztina Németh, Csaba Rikker, Zsuzsanna Ökrös, Sándor Túri

Journal:

Molecular and Cellular Probes

Year:

2011

Language:

english

File:

PDF, 148 KB

english, 2011

45

HLA class II allele polymorphism in Hungarian patients with systemic lupus erythematosus

Journal:

Annals of the Rheumatic Diseases

Year:

2003

Language:

english

File:

PDF, 338 KB

english, 2003

46

Increased heme oxygenase-1 expression in premature infants with respiratory distress syndrome

Ildikó Farkas, Zoltán Maróti, Márta Katona, Emőke Endreffy, Péter Monostori, Krisztina Máder, Sándor Túri

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 122 KB

english, 2008

47

Quantitative cytomegalovirus load in urine and clinical outcome in neonates

Aranka Nagy, Gyula Tálosi, Károly Streitman, Sándor Pintér, Emőke Endreffy, Rózsa Pusztai

Journal:

Journal of Clinical Virology

Year:

2005

Language:

english

File:

PDF, 50 KB

english, 2005

48

PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6

Oparina, N. Y., Delgado-Vega, A. M., Martinez-Bueno, M., Magro-Checa, C., Fernandez, C., Castro, R. O., Pons-Estel, B. A., D'Alfonso, S., Sebastiani, G. D., Witte, T., Lauwerys, B. R., Endreffy, E., K

Journal:

Annals of the Rheumatic Diseases

Year:

2015

Language:

english

File:

PDF, 3.27 MB

english, 2015

49

The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis

Laki, J., Laki, I., Nemeth, K., Ujhelyi, R., Bede, O., Endreffy, E., Bolbas, K., Gyurkovits, K., Csiszer, E., Solyom, E., Dobra, G., Halasz, A., Pozsonyi, E., Rajczy, K., Prohaszka, Z., Fekete, G., Fu

Journal:

International Immunology

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

50

Leiden Mutation, Bed Rest and Infection: Simultaneous Triggers for Maternal Deep-Vein Thrombosis and Neonatal Intracranial Hemorrhage?

Sikovanyecz, J&aacute, nos, Orvos, Hajnalka, P&aacute, l, Attila, Katona, M&aacute, rta, Endreffy, Em&otilde, ke, Horv&aacute, th, Emese, Szab&oacute, , J&aacute, nos

Journal:

Fetal Diagnosis and Therapy

Year:

2004

Language:

english

File:

PDF, 66 KB

english, 2004

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