K Becker

Summary

Affiliation: Semmelweis University
Country: Hungary

Publications

  1. ncbi request reprint Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome
    K Becker
    Department of Dermatology, Semmelweis University, H 1085 Budapest, Maria u 41, Hungary
    Exp Dermatol 10:286-9. 2001
  2. ncbi request reprint Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
    K Becker
    Department of Dermatology, Semmelweis University, Budapest, Hungary
    Exp Dermatol 12:324-9. 2003
  3. ncbi request reprint Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma
    S Szalai
    Department of Dermatology, , Budapest, Hungary
    Pediatr Dermatol 16:430-5. 1999
  4. ncbi request reprint Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata
    N V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:701-4. 2003
  5. ncbi request reprint Assembly and functional expression of murine glutathione reductase cDNA: a sequence missing in expressed sequence tag libraries
    R Iozef
    Center of Biochemistry, Heidelberg University, Im Neuenheimer Feld 328, D 69120, Heidelberg, Germany
    Biochim Biophys Acta 1500:137-41. 2000
  6. ncbi request reprint Is the serotonin transporter polymorphism (5-HTTLPR) associated with harm avoidance and internalising problems in childhood and adolescence?
    K Becker
    Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany
    J Neural Transm 114:395-402. 2007
  7. ncbi request reprint The dopamine D4 receptor gene exon III polymorphism is associated with novelty seeking in 15-year-old males from a high-risk community sample
    K Becker
    Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany
    J Neural Transm 112:847-58. 2005
  8. pmc SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
    W Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Breisacher Str 33, D 79106 Freiburg, Germany
    J Med Genet 41:e113. 2004
  9. ncbi request reprint Oropharyngeal carriage of Candida species in HIV-infected patients in India
    H C Gugnani
    Department of Medical Mycology, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi 110 027, India
    Mycoses 46:299-306. 2003
  10. ncbi request reprint An outbreak of candidemia due to Candida tropicalis in a neonatal intensive care unit
    A Chowdhary
    Department of Medical Mycology, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi 110 007, India
    Mycoses 46:287-92. 2003

Collaborators

Detail Information

Publications14

  1. ncbi request reprint Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome
    K Becker
    Department of Dermatology, Semmelweis University, H 1085 Budapest, Maria u 41, Hungary
    Exp Dermatol 10:286-9. 2001
    ..We report a case of CDPX2 with a new missense mutation (C-->G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP...
  2. ncbi request reprint Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
    K Becker
    Department of Dermatology, Semmelweis University, Budapest, Hungary
    Exp Dermatol 12:324-9. 2003
    ..B.C1 monoclonal antibody failed to detect TGase 1 in the patient's skin sample, and TGase activity measured by monodansyl cadaverine-incorporation showed the reduced TGase activity at the distribution of TGase 1 in the epidermis...
  3. ncbi request reprint Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma
    S Szalai
    Department of Dermatology, , Budapest, Hungary
    Pediatr Dermatol 16:430-5. 1999
    ..In the case of a stop codon type of mutation, it is questionable whether it really results in a clinical phenotype, but segregation analysis revealed cosegregation of the PPK phenotype with the mutant allele...
  4. ncbi request reprint Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata
    N V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:701-4. 2003
    ..In addition, we have performed molecular prenatal testing on her unborn fetus. The results demonstrate inter-familial variability for missense mutations within the emopamil binding protein and add to the molecular data for CDPX2...
  5. ncbi request reprint Assembly and functional expression of murine glutathione reductase cDNA: a sequence missing in expressed sequence tag libraries
    R Iozef
    Center of Biochemistry, Heidelberg University, Im Neuenheimer Feld 328, D 69120, Heidelberg, Germany
    Biochim Biophys Acta 1500:137-41. 2000
    ..Another cDNA, representing GR with a mitochondrial targeting sequence, yielded two distinct enzymically active expression products...
  6. ncbi request reprint Is the serotonin transporter polymorphism (5-HTTLPR) associated with harm avoidance and internalising problems in childhood and adolescence?
    K Becker
    Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany
    J Neural Transm 114:395-402. 2007
    ..There were no moderating effects of early life stress or gender. An explanation for the negative findings is that the S allele may be a necessary but not sufficient component cause in a composite risk factor...
  7. ncbi request reprint The dopamine D4 receptor gene exon III polymorphism is associated with novelty seeking in 15-year-old males from a high-risk community sample
    K Becker
    Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany
    J Neural Transm 112:847-58. 2005
    ..In females no association with temperament was observed. This association could not be explained by the presence of either an attention-deficit/hyperactivity disorder (ADHD) or a DRD4 by ADHD interaction...
  8. pmc SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
    W Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Breisacher Str 33, D 79106 Freiburg, Germany
    J Med Genet 41:e113. 2004
  9. ncbi request reprint Oropharyngeal carriage of Candida species in HIV-infected patients in India
    H C Gugnani
    Department of Medical Mycology, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi 110 027, India
    Mycoses 46:299-306. 2003
    ..The azole-resistant isolates reported here endorse the role of antifungal susceptibility testing whenever antifungal treatment with azoles is planned...
  10. ncbi request reprint An outbreak of candidemia due to Candida tropicalis in a neonatal intensive care unit
    A Chowdhary
    Department of Medical Mycology, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi 110 007, India
    Mycoses 46:287-92. 2003
    ..Four of five urinary tract isolates and both environmental isolates genotyped by arbitrarily primed-PCR with several random primers were shown to belong to the same genotype...
  11. pmc Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
    J Kohlhase
    Institute for Human Genetics, University of Gottingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
    J Med Genet 40:473-8. 2003
    ..Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations...
  12. ncbi request reprint Effects of Moringa oleifera seed extract on rumen fermentation in vitro
    E M Hoffmann
    Department of Aquaculture Systems and Animal Nutrition, Institute of Animal Production in the Tropics and Subtropics, University of Hohenheim, Stuttgart, Germany
    Arch Tierernahr 57:65-81. 2003
    ..If the chemical nature of the active substance and its mechanism of action can be clarified, it may provide an alternative to replace critical synthetic feed additives (such as antibiotics) for high yielding dairy cows...
  13. ncbi request reprint Increased sensitization of acoustic startle response in spasmodic mice with a mutation of the glycine receptor alpha1-subunit gene
    C F Plappert
    Universitat Tubingen, Tierphysiologie Zoologisches Institut, Morgenstelle 28, D 72076 Tubingen, Germany
    Behav Brain Res 121:57-67. 2001
    ..Alternatively, glycinergic tonic inhibition of sensitizing structures (e.g. the amygdala) in the wildtype may be diminished in spd/spd mutants, thus leading to a high sensitization level...
  14. ncbi request reprint Prevalence of genes encoding for staphylococcal leukocidal toxins among clinical isolates of Staphylococcus aureus from implant orthopedic infections
    C R Arciola
    Research Unit on Implant Infections, Rizzoli Orthopedic Institute, Bologna, Italy
    Int J Artif Organs 30:792-7. 2007
    ..The genes encoding Panton-Valentine leukocidin components were detected in only one isolate that, curiously enough, was taken solely from a knee arthroprosthesis infection...