E Morava

Summary

Publications

  1. ncbi request reprint A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion
    E Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, 7623 Hungary
    Genet Couns 14:337-42. 2003
  2. ncbi request reprint [Maternal toxoplasma infection and mosaic trisomy 8 syndrome]
    Eva Morava
    Pecsi Tudomanyegyetem Altalanos Orvostudomanyi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet
    Orv Hetil 143:563-5. 2002
  3. ncbi request reprint Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Am J Med Genet A 116:272-7. 2003
  4. ncbi request reprint Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 12:161-5. 2003
  5. ncbi request reprint [Mucolipidosis II with unusual biochemical parameters]
    Eva Morava
    Általános Orvostudományi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet, Pecsi Tudomanyegyetem, Pecs
    Orv Hetil 143:135-7. 2002
  6. ncbi request reprint Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 12:123-7. 2003
  7. ncbi request reprint Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis
    E Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, 7623, Hungary
    Genet Couns 13:455-7. 2002
  8. ncbi request reprint Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
    Eva Morava
    Department of Medical Genetics and Child Development, Medical Faculty, University of Pecs, Józesf A u 7, 7623 Pecs, Hungary
    Eur J Pediatr 161:619-22. 2002
  9. ncbi request reprint Isodicentric Y chromosome in an Ullrich-Turner patient without virilization
    E Morava
    Department of Medical Genetics and Child Development, University Medical School of Pecs, Pecs, Hungary
    Am J Med Genet 91:99-101. 2000
  10. ncbi request reprint [Kennedy disease in a patient with progressive speech disorder]
    J Karteszi
    Pecsi Tudomanyegyetem, Általános Orvostudományi Kar, Orvosi Genetikal és Gyermekfejlódéstani Intézet
    Orv Hetil 142:1915-7. 2001

Collaborators

Detail Information

Publications40

  1. ncbi request reprint A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion
    E Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, 7623 Hungary
    Genet Couns 14:337-42. 2003
    ..Patchy skin hypopigmentation is a well known nonspecific sign in cytogenetic mosaicism which is commonly seen in ring syndrome...
  2. ncbi request reprint [Maternal toxoplasma infection and mosaic trisomy 8 syndrome]
    Eva Morava
    Pecsi Tudomanyegyetem Altalanos Orvostudomanyi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet
    Orv Hetil 143:563-5. 2002
    ....
  3. ncbi request reprint Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Am J Med Genet A 116:272-7. 2003
    ..Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity "fronto-otopalatodigital-osteodysplasty syndome"...
  4. ncbi request reprint Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 12:161-5. 2003
    ..Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome...
  5. ncbi request reprint [Mucolipidosis II with unusual biochemical parameters]
    Eva Morava
    Általános Orvostudományi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet, Pecsi Tudomanyegyetem, Pecs
    Orv Hetil 143:135-7. 2002
    ..A clinical diagnosis of I-cell disease was established in an infant with coarse face, hyperplastic gums, severe growth deficiency, skeletal deformities and retarded psychomotor development...
  6. ncbi request reprint Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 12:123-7. 2003
    ..Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome...
  7. ncbi request reprint Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis
    E Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, 7623, Hungary
    Genet Couns 13:455-7. 2002
    ..Scoliosis is seldom reported in patients with mosaic trisomy 9 syndrome. FISH studies in our proband detected no trisomic cell line in the paravertebral muscle...
  8. ncbi request reprint Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
    Eva Morava
    Department of Medical Genetics and Child Development, Medical Faculty, University of Pecs, Józesf A u 7, 7623 Pecs, Hungary
    Eur J Pediatr 161:619-22. 2002
    ..Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone...
  9. ncbi request reprint Isodicentric Y chromosome in an Ullrich-Turner patient without virilization
    E Morava
    Department of Medical Genetics and Child Development, University Medical School of Pecs, Pecs, Hungary
    Am J Med Genet 91:99-101. 2000
    ..Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism)...
  10. ncbi request reprint [Kennedy disease in a patient with progressive speech disorder]
    J Karteszi
    Pecsi Tudomanyegyetem, Általános Orvostudományi Kar, Orvosi Genetikal és Gyermekfejlódéstani Intézet
    Orv Hetil 142:1915-7. 2001
    ..Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method...
  11. ncbi request reprint Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 140:2248-50. 2006
  12. ncbi request reprint SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Brain 130:862-74. 2007
    ..We confirm and extend the findings on this inborn error of metabolism in the TCA cycle that must be carefully investigated by accurate metabolite analyses...
  13. ncbi request reprint Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation
    Fern Tsien
    Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA 70112, USA
    Clin Dysmorphol 14:177-81. 2005
    ..The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility...
  14. ncbi request reprint Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 16:131-4. 2007
  15. ncbi request reprint Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
    Sandra G Heil
    Department of Pediatrics, Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 30:811. 2007
    ....
  16. ncbi request reprint Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q
    Márta Czakó
    MTA PTE Clinical Genetics Research Group, Pecs, Hungary
    Am J Med Genet A 131:310-2. 2004
    ..It is proposed that the major clinical findings of this patient are consistent with the phenotype characteristic of the Opitz "C" trigonocephaly syndrome...
  17. ncbi request reprint Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)
    Márta Czakó
    MTA PTE Clinical Genetics Research Group, Pecs, Hungary
    Am J Med Genet 108:226-8. 2002
    ....
  18. ncbi request reprint Scoliosis in velo-cardio-facial syndrome
    Eva Morava
    Children s Hospital, New Orleans, Louisiana 70118, USA
    J Pediatr Orthop 22:780-3. 2002
    ..2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay...
  19. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  20. ncbi request reprint The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
    Judith Fischer
    Centre National de Genotypage, 91057 Evry Cedex, France
    Nat Genet 39:28-30. 2007
    ..NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58)...
  21. ncbi request reprint Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
    Gretha van de Glind
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Paediatr Neurol 11:243-6. 2007
    ..We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease...
  22. ncbi request reprint Provisional new syndrome of MR/MCA with evolving phenotype
    Yves Lacassie
    Department of Pediatrics, Louisiana State University Health Sciences Center and Children s Hospital, New Orleans, Louisiana 70112 2822, USA
    Am J Med Genet 113:213-7. 2002
    ..Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome...
  23. ncbi request reprint [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]
    Judit Karteszi
    Pecsi Tudomanyegyetem, Orvos és Egészségtudományi Centrum, Orvosi Genetikai és Gyermekfejlodéstani Intézet, Pecs
    Orv Hetil 145:909-11. 2004
    ..Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999...
  24. ncbi request reprint A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Hum Genet 15:638-45. 2007
    ..The presence of the characteristic phenotype might warrant direct DNA analysis...
  25. ncbi request reprint Null mutations and lethal congenital form of glycogen storage disease type IV
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Largo G Gaslini 5, I 16147 Genova, Italy
    Biochem Biophys Res Commun 361:445-50. 2007
    ..W548X). These data underscore that in GSD-IV a severe phenotype correlates with null mutations, and indicate that RNA analysis is necessary to characterize functional consequences of intronic mutations...
  26. ncbi request reprint Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome
    Mrugeshkumar K Shah
    Department of Human Genetics and Pediatrics, Division of Neonatology, Tulane University School of Medicine, New Orleans, LA, USA
    J Perinatol 22:89-90. 2002
    ..The combination of congenital heart disease and hypocalcemia in our patient raises the possibility of a hydantoin effect on neural crest migration...
  27. ncbi request reprint [Metabolic bone disease in premature infants and genetic polymorphisms]
    Simone Funke
    Pecsi Tudomanyegyetem, Altalános Orvostudományi Kar Szülészeti és Nogyógyászati Klinika Pécs Edesanyák útja 17 7624
    Orv Hetil 148:1957-65. 2007
    ..In adults, osteoporosis has been shown to be associated with polymorphisms of vitamin D receptor, estrogen receptor, and collagen Ialpha1 receptor genes...
  28. doi request reprint Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
    Nicole Monnier
    Laboratoire de Biochimie et Génétique Moléculaire and Centre de Référence des Maladies Neuro Musculaires, CHU Grenoble, Grenoble, France
    Hum Mutat 29:670-8. 2008
    ..Our study also indicated that presence of a second mutation must be investigated in sporadic cases or in dominant cases presenting with a familial clinical variability...
  29. ncbi request reprint Presenile cataract: consider cholestanol
    Alexandra Teszas
    Department of Medical Genetics and Child Develoment, University of Pecs, Hungary
    Arch Ophthalmol 124:1490-2. 2006
  30. ncbi request reprint Influence of genetic polymorphisms on bone disease of preterm infants
    Simone Funke
    Department of Obstetrics and Gynecology, Medical School, University of Pecs, 7624 Pecs, Hungary
    Pediatr Res 60:607-12. 2006
    ..002), lower gestational age (p = 0.015), homozygous allelic variants of high number of (TA)(n) repeats (p = 0.006), and interaction between VDR and COLIA1 genotype (p = 0.009)...
  31. ncbi request reprint Screening for CDG type Ia in Joubert syndrome
    Eva Morava
    Department of Pediatrics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Med Sci Monit 10:CR469-72. 2004
    ..It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation...
  32. ncbi request reprint Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients
    Judit Karteszi
    Am J Med Genet A 131:106. 2004
  33. pmc Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
    Richard J F L Lemmers
    Leiden University Medical Center, Center for Human and Clinical Genetics, Department of Human Genetics, Leiden, The Netherlands
    Am J Hum Genet 75:1124-30. 2004
    ..Thus, in addition to a contraction of D4Z4, additional cis-acting elements on 4qA may be required for the development of FSHD. Alternatively, 4qB subtelomeres may contain elements that prevent FSHD pathogenesis...
  34. ncbi request reprint Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
    Eva Morava
    Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Eur J Pediatr 163:467-71. 2004
    ..CONCLUSION: we recommend a muscle biopsy and the biochemical analysis of the oxidative phosphorylation system in patients with muscle hypotonia, cardiomyopathy and congenital or infantile cataract...
  35. ncbi request reprint Defective protein glycosylation in patients with cutis laxa syndrome
    Eva Morava
    Department of Pediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 13:414-21. 2005
    ..Our results suggest that a combined defect of glycosylation might be a causative factor in congenital cutis laxa. This is the first report where abnormal N- and O-linked glycosylation is implicated in the etiology of cutis laxa syndrome...
  36. ncbi request reprint A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
    Suzan Wopereis
    Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands
    Biochim Biophys Acta 1741:156-64. 2005
    ..Improper glycosylation of ECM proteins of skin may form the pathophysiological basis for the cutis laxa phenotype...
  37. ncbi request reprint Transient progeroid phenotype and lipodystrophy in mosaic polyploidy
    Judit Karteszi
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 15:29-31. 2006
    ..A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy...
  38. ncbi request reprint Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    Am J Med Genet A 140:752-6. 2006
    ..Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks-Wisniewski-Brown syndrome...
  39. ncbi request reprint Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
    Maaike C de Vries
    Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics, Laboratory of Pediatrics and Neurology and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Pediatr 166:229-34. 2007
    ..Conclusion We suggest performing POLG1 mutation analysis in children with combined oxidative phosphorylation deficiencies in muscle, even if the clinical picture is not Alpers syndrome...
  40. doi request reprint Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay
    Saskia Koene
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 17:195-8. 2008