K. Szakszon

发表

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Martin A. M. Reijns, J. Marsh, J. Rankin, 2020, Genes & development.

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

K. Koczok, G. Szabó, L. Madar, 2019, Journal of biotechnology.

Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.

E. Berényi, Petra Balla, I. Balogh, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

New mutations in the ATM gene and clinical data of 25 AT patients

T. Dörk, I. Demuth, K. Chrzanowska, 2011, neurogenetics.

A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

J. Clayton-Smith, S. Price, C. Kubisch, 2015, American journal of medical genetics. Part A.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome

B. Dallapiccola, G. Borck, C. Salpietro, 2013, American journal of medical genetics. Part A.

R. Pfundt, I. Balogh, A. Újfalusi, 2021, Cold Spring Harbor molecular case studies.

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

I. Balogh, A. Újfalusi, B. Bessenyei, 2014, Orvosi hetilap.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

J. Baldwin, W. Brown, J. Högel, 2015, Human mutation.

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.

B. Nagy, I. Balogh, G. Mogyorósy, 2019, Journal of biotechnology.

WITHDRAWN: Angiotensin II-induced endogenous cholesterol synthesis in human monocytes of patients with dyslipidemia

G. Paragh, Z. Sarang, Z. Balogh, 2014 .

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

G. Méhes, J. Balla, G. Balla, 2020, BMC Medical Genetics.

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

L. Kerényi, Z. Almássy, M. Molnár, 2021, Life.

[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].

I. György, Z. Illés, Z. Almássy, 2011, Orvosi hetilap.

[Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation].

G. Szabó, B. Bessenyei, É. Oláh, 2010, Orvosi hetilap.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

C. Vrinten, G. Ceccarini, A. Federico, 2020, Orphanet Journal of Rare Diseases.

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

K. Koczok, L. Madar, I. Balogh, 2022, Genes.

Torticollis in 15q11.2 Microdeletion Syndrome: a Rare Association in Angelman-like Syndromes

G. Szabó, I. Balogh, B. Bessenyei, 2016 .

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

M. Ioana, Claudia Jurca, M. Bembea, 2021, Genes.

22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

I. Kántor, B. Bessenyei, K. Szakszon, 2020, Molecular Syndromology.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

K. M. McSweeney, D. Nickerson, M. Bamshad, 2018, Human Genetics.

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

G. Borck, L. Basel‐Vanagaite, Marianne Mcguire, 2018, American journal of medical genetics. Part A.

KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.

F. Setién, M. Esteller, J. Yokota, 2015, Cancer research.

KAT 6 B Is a Tumor Suppressor Histone H 3 Lysine 23 Acetyltransferase UndergoingGenomic Loss in Small Cell Lung Cancer

F. Setién, M. Esteller, J. Yokota, 2015 .

Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

I. Balogh, T. Szabó, Éva Czemmel, 2021, Genes.

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation

B. Bessenyei, É. Oláh, K. Szakszon, 2014, American journal of medical genetics. Part A.

Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type – New findings with neuroimaging

A. Jakab, E. Berényi, B. Bessenyei, 2011, American journal of medical genetics. Part A.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

K. M. McSweeney, D. Nickerson, Jun Z. Li, 2018, Human Genetics.

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

T. Kalmár, L. Sztriha, A. Máté, 2020, Journal of Pediatric Genetics.

Clinical and genetic characteristics of craniosynostosis in Hungary

L. Bognár, A. Nagy, L. Novák, 2015, American journal of medical genetics. Part A.

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

E. Berényi, A. C. Knegt, I. Balogh, 2012, European journal of medical genetics.

Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia

G. Kriván, C. Polgár, Z. Takácsi-Nagy, 2023, European journal of haematology.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

The satiety factor apolipoprotein A-IV modulates intestinal epithelial permeability through its interaction with alpha-catenin: implications for inflammatory bowel diseases.

F. Kronenberg, T. Langmann, S. Bornstein, 2007, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation

B. Bessenyei, É. Oláh, K. Szakszon, 2014, American journal of medical genetics. Part A.

Genetic counselling legislation and practice in cancer in EU Member States

K. Stamatopoulos, L. Leitsalu, D. Primorac, 2024, European journal of public health.