Found: 86
Select item for more details and to access through your institution.
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.673025
- By:
- Publication type:
- Article
Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
- Published in:
- Frontiers in Genetics, 2021, v. 14, p. N.PAG, doi. 10.3389/fgene.2021.635480
- By:
- Publication type:
- Article
Chronic Nonhealing Wounds: Could Leg Ulcers Be Hereditary?
- Published in:
- Ulcers, 2013, p. 1, doi. 10.1155/2013/219257
- By:
- Publication type:
- Article
Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 627, doi. 10.1177/0883073813494476
- By:
- Publication type:
- Article
Polymorphisms of the IL23R Gene Are Associated with Psoriasis but not with Immunoglobulin A Nephropathy in a Hungarian Population.
- Published in:
- Inflammation, 2011, v. 34, n. 6, p. 603, doi. 10.1007/s10753-010-9268-2
- By:
- Publication type:
- Article
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7401, doi. 10.3390/ijms24087401
- By:
- Publication type:
- Article
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2617, doi. 10.3390/ijms24032617
- By:
- Publication type:
- Article
Psoriasis-Associated Inflammatory Conditions Induce IL-23 mRNA Expression in Normal Human Epidermal Keratinocytes.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 540, doi. 10.3390/ijms23010540
- By:
- Publication type:
- Article
Passive Transfer of Blood Sera from ALS Patients with Identified Mutations Results in Elevated Motoneuronal Calcium Level and Loss of Motor Neurons in the Spinal Cord of Mice.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9994, doi. 10.3390/ijms22189994
- By:
- Publication type:
- Article
Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to Sera from Sporadic Patients.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5566, doi. 10.3390/ijms21155566
- By:
- Publication type:
- Article
Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 10, p. 2573, doi. 10.3390/ijms20102573
- By:
- Publication type:
- Article
Differential Inflammatory-Response Kinetics of Human Keratinocytes upon Cytosolic RNA- and DNA-Fragment Induction.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 3, p. 774, doi. 10.3390/ijms19030774
- By:
- Publication type:
- Article
Expression and Functional Studies on the Noncoding RNA, PRINS.
- Published in:
- International Journal of Molecular Sciences, 2013, v. 14, n. 1, p. 205, doi. 10.3390/ijms14010205
- By:
- Publication type:
- Article
A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A tünetmentes állapot fenntartásáért felelôs szerkezeti és immunológiai aspektusok azonosítása a pikkelysömörös nem léziós bôrben.
- Published in:
- Immunology Quarterly / Immunológiai Szemle, 2023, v. 15, n. 3, p. 75
- By:
- Publication type:
- Article
Kedves Kollégák!
- Published in:
- Immunology Quarterly / Immunológiai Szemle, 2022, v. 14, n. 3, p. 6
- By:
- Publication type:
- Article
Kedves Kollégák.
- Published in:
- Immunology Quarterly / Immunológiai Szemle, 2021, v. 8, n. 3, p. 4
- By:
- Publication type:
- Article
Búcsú Szabó János professzortól (1947–2022).
- Published in:
- Magyar Nőorvosok Lapja, 2023, v. 86, n. 1, p. 51
- By:
- Publication type:
- Article
Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 7, p. 624, doi. 10.3390/life11070624
- By:
- Publication type:
- Article
The –308 G>A SNP of TNFA is a factor predisposing to chronic rhinosinusitis associated with nasal polyposis in aspirin-sensitive Hungarian individuals: conclusions of a genetic study with multiple stratifications.
- Published in:
- International Immunology, 2013, v. 25, n. 6, p. 383
- By:
- Publication type:
- Article
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 784, doi. 10.1002/ajmg.a.38084
- By:
- Publication type:
- Article
MECP2-gén-duplikáció gyermekkori és praenatalis diagnózisa.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2024, v. 165, n. 1, p. 30, doi. 10.1556/650.2024.32956
- By:
- Publication type:
- Article
Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0386-7
- By:
- Publication type:
- Article
Delineating the genetic heterogeneity of OCA in Hungarian patients.
- Published in:
- European Journal of Medical Research, 2017, v. 22, p. 1, doi. 10.1186/s40001-017-0262-0
- By:
- Publication type:
- Article
Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses.
- Published in:
- Brain & Behavior, 2019, v. 9, n. 6, p. N.PAG, doi. 10.1002/brb3.1293
- By:
- Publication type:
- Article
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 4, p. n/a, doi. 10.1002/brb3.669
- By:
- Publication type:
- Article
Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 10, p. 1017, doi. 10.1111/exd.14161
- By:
- Publication type:
- Article
Analysis of psoriasis‐relevant gene expression and exon usage alterations after silencing of SR‐rich splicing regulators.
- Published in:
- Experimental Dermatology, 2018, v. 27, n. 6, p. 656, doi. 10.1111/exd.13530
- By:
- Publication type:
- Article
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke- Spiegler syndrome.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 12, p. 967, doi. 10.1111/exd.12040
- By:
- Publication type:
- Article
The anti-apoptotic protein G1P3 is overexpressed in psoriasis and regulated by the non-coding RNA, PRINS.
- Published in:
- Experimental Dermatology, 2010, v. 19, n. 3, p. 269, doi. 10.1111/j.1600-0625.2010.01066.x
- By:
- Publication type:
- Article
The expression of keratinocyte growth factor receptor (FGFR2-IIIb) correlates with the high proliferative rate of HaCaT keratinocytes.
- Published in:
- Experimental Dermatology, 2006, v. 15, n. 8, p. 596, doi. 10.1111/j.1600-0625.2006.00450.x
- By:
- Publication type:
- Article
Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple <italic>CARD14</italic> Variants.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01564
- By:
- Publication type:
- Article
The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.
- Published in:
- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2021, v. 38, n. 1, p. 43, doi. 10.5114/ada.2021.104277
- By:
- Publication type:
- Article
Evaluation of a Partial Genome Screening of Two Asthma Susceptibility Regions Using Bayesian Network Based Bayesian Multilevel Analysis of Relevance.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033573
- By:
- Publication type:
- Article
In Vitro Dedifferentiation of Melanocytes from Adult Epidermis.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017197
- By:
- Publication type:
- Article
Human Keratinocytes Are Vanilloid Resistant.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003419
- By:
- Publication type:
- Article
The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.
- Published in:
- Acta Dermatovenerologica Croatica, 2018, v. 26, n. 2, p. 169
- By:
- Publication type:
- Article
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
- Published in:
- Archives of Dermatological Research, 2015, v. 307, n. 10, p. 891, doi. 10.1007/s00403-015-1597-4
- By:
- Publication type:
- Article
A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome.
- Published in:
- Archives of Dermatological Research, 2014, v. 306, n. 1, p. 97, doi. 10.1007/s00403-013-1408-8
- By:
- Publication type:
- Article
A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome.
- Published in:
- Archives of Dermatological Research, 2013, v. 305, n. 5, p. 453, doi. 10.1007/s00403-013-1323-z
- By:
- Publication type:
- Article
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.
- Published in:
- Archives of Dermatological Research, 2012, v. 304, n. 8, p. 679, doi. 10.1007/s00403-012-1244-2
- By:
- Publication type:
- Article
The expressions of ABCC4 and ABCG2 xenobiotic transporters in human keratinocytes are proliferation-related.
- Published in:
- Archives of Dermatological Research, 2012, v. 304, n. 1, p. 57, doi. 10.1007/s00403-011-1174-4
- By:
- Publication type:
- Article
Comparison of stress-induced PRINS gene expression in normal human keratinocytes and HaCaT cells.
- Published in:
- Archives of Dermatological Research, 2011, v. 303, n. 10, p. 745, doi. 10.1007/s00403-011-1162-8
- By:
- Publication type:
- Article
Human adult epidermal melanocytes cultured without chemical mitogens express the EGF receptor and respond to EGF.
- Published in:
- Archives of Dermatological Research, 2007, v. 299, n. 4, p. 191, doi. 10.1007/s00403-007-0742-0
- By:
- Publication type:
- Article
Differentiation-regulated expression of Toll-like receptors 2 and 4 in HaCaT keratinocytes.
- Published in:
- Archives of Dermatological Research, 2004, v. 296, n. 3, p. 120, doi. 10.1007/s00403-004-0475-2
- By:
- Publication type:
- Article
Ethanol and acetone stimulate the proliferation of HaCaT keratinocytes: The possible role of alcohol in exacerbating psoriasis.
- Published in:
- Archives of Dermatological Research, 2003, v. 295, n. 2, p. 56, doi. 10.1007/s00403-003-0399-2
- By:
- Publication type:
- Article
Serum factors regulate the expression of the proliferation-related genes α5 integrin and keratin 1, but not keratin 10, in HaCaT keratinocytes.
- Published in:
- Archives of Dermatological Research, 2001, v. 293, n. 4, p. 206, doi. 10.1007/s004030100217
- By:
- Publication type:
- Article
A nő életkorának szerepe a petesejt fertilizációjában.
- Published in:
- Magyar Nőorvosok Lapja, 2024, v. 87, n. 1, p. 9
- By:
- Publication type:
- Article