Beyhan Tuysuz

Summary

Affiliation: Istanbul University
Country: Turkey

Publications

  1. doi request reprint Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 161:1300-8. 2013
  2. doi request reprint Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Brain Dev 35:596-601. 2013
  3. doi request reprint Growth charts of Turkish children with Down syndrome
    Beyhan Tuysuz
    Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 158:2656-64. 2012
  4. doi request reprint Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3
    B Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Clin Genet 75:375-83. 2009
  5. doi request reprint Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 149:2290-5. 2009
  6. doi request reprint Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
    Beyhan Tuysuz
    Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul, Turkey
    Brain Dev 31:702-5. 2009
  7. doi request reprint The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Pediatr Radiol 39:84-9. 2009
  8. ncbi request reprint Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation
    B Tuysuz
    Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Genet Couns 19:29-35. 2008
  9. ncbi request reprint Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy
    B Tuysuz
    Division of Genetics, Department of Pediatrics, Istanbul University, Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Genet Couns 21:61-7. 2010
  10. doi request reprint Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients
    Beyhan Tuysuz
    Department of Pediatric Genetics, Istanbul University, Turkey
    Am J Med Genet A 149:1727-33. 2009

Collaborators

Detail Information

Publications27

  1. doi request reprint Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 161:1300-8. 2013
    ..The patients also had precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies, none of which has been reported previously in this entity...
  2. doi request reprint Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Brain Dev 35:596-601. 2013
    ..However, multiple small hyperintense lesions in subcortical white matter on T2 weighted and fluid attenuation inversion recovery (FLAIR) images may support the clinical diagnosis of CISS...
  3. doi request reprint Growth charts of Turkish children with Down syndrome
    Beyhan Tuysuz
    Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 158:2656-64. 2012
    ..However, there is no statistically significant difference in values of height and head circumference between patients with or without severe CHD group. In addition, hypothyroidism had no effect on growth in DS patients...
  4. doi request reprint Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3
    B Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Clin Genet 75:375-83. 2009
    ..In addition to the previously noted skeletal features, affected members of this family also had cardiac involvement including mitral, tricuspid and/or aortic regurgitations and type E brachydactyly...
  5. doi request reprint Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 149:2290-5. 2009
    ..These data contribute new insights into the pathogenesis of WS4...
  6. doi request reprint Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
    Beyhan Tuysuz
    Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul, Turkey
    Brain Dev 31:702-5. 2009
    ..Serine 456 is conserved in mucolipin proteins throughout evolution, therefore the mutation is considered as causative for the severe phenotype of this patient...
  7. doi request reprint The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Pediatr Radiol 39:84-9. 2009
    ..When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered...
  8. ncbi request reprint Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation
    B Tuysuz
    Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Genet Couns 19:29-35. 2008
    ..The boy presented typical facial features of the distal 7q duplication syndrome but no genital anomalies attributable to his distal 9p deletion. We assume that the severe epilepsy is likely due to the trisomy 7q...
  9. ncbi request reprint Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy
    B Tuysuz
    Division of Genetics, Department of Pediatrics, Istanbul University, Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Genet Couns 21:61-7. 2010
    ..Therefore, the clinical findings of the patient were most similar to monosomy 21 mosaicism syndrome...
  10. doi request reprint Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients
    Beyhan Tuysuz
    Department of Pediatric Genetics, Istanbul University, Turkey
    Am J Med Genet A 149:1727-33. 2009
    ..It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family...
  11. doi request reprint Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population
    Beyhan Tuysuz
    Department of Pediatrics, Division of Genetics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Neurogenetics 9:119-25. 2008
    ..This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population...
  12. pmc A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects
    Beyhan Tuysuz
    Department of Pediatrics, Division of Genetics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Eur J Hum Genet 17:565-72. 2009
    ..On the basis of these findings, we suggest that cardiac defects may also represent a component of this syndrome and thus a physiologically relevant target of MMP-2 activity...
  13. ncbi request reprint Spondyloenchondrodysplasia: clinical variability in three cases
    Beyhan Tuysuz
    Department of Pediatrics, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey
    Am J Med Genet A 128:185-9. 2004
    ..In conclusion, we suggest that family screening and cranial imaging for the presence of intracranial calcifications should be considered in every patient with the diagnosis of spondyloenchondrodysplasia...
  14. doi request reprint The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2
    Yeşerin Yildirim
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Am J Med Genet A 155:134-40. 2011
    ..In conclusion, the phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B...
  15. ncbi request reprint Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts
    Beyhan Tuysuz
    Division of Genetics and Teratology, Department of Pediatrics, University of Istanbul, Istanbul, Turkey
    Am J Med Genet 109:206-10. 2002
    ..Besides the characteristic mesomelic limb anomalies of Nievergelt syndrome, this patient exhibited two additional features: agenesis of the cerebellar vermis and cataracts, both of which have not been previously reported...
  16. ncbi request reprint Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 164:1677-85. 2014
    ..2014 Wiley Periodicals, Inc. ..
  17. ncbi request reprint Congenital cutis laxa syndrome: type II autosomal recessive inheritance
    Beyhan Tuysuz
    Division of Genetics and Teratology, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Turk J Pediatr 45:265-8. 2003
    ..In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa...
  18. ncbi request reprint Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    Beyhan Tuysuz
    Department of Pediatrics, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 119:375-80. 2003
    ..The parents were healthy and first cousins signifying autosomal recessive inheritance. We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia...
  19. ncbi request reprint Is the novel SCKL3 at 14q23 the predominant Seckel locus?
    Mehmet Okyay Kilinç
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Eur J Hum Genet 11:851-7. 2003
    ..A consanguineous family with one affected sib was indicative of linkage to SCKL2. The novel gene locus SCKL3 is 1.18 cM and harbors ménage a trois 1, a gene with a role in DNA repair...
  20. doi request reprint Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis
    Tugba Erener Ercan
    Department of Neonatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    J Child Neurol 28:115-9. 2013
    ..Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome...
  21. doi request reprint A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?
    Cengiz Yalcinkaya
    Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Turkey
    Neuropediatrics 43:159-61. 2012
    ..It is an open question whether this is an association by chance or a feature of PMLD not previously noted...
  22. ncbi request reprint Prevalence of Prader-Willi syndrome among infants with hypotonia
    Beyhan Tuysuz
    Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey Electronic address
    J Pediatr 164:1064-7. 2014
    ..To investigate the prevalence of Prader-Willi syndrome (PWS) in infants with hypotonia between the ages of 0 and 2 years...
  23. ncbi request reprint Ankyloblepharon filiforme adnatum (AFA) associated with trisomy 18
    Beyhan Tuysuz
    Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Turk J Pediatr 44:360-2. 2002
    ..Its etiology is unknown. A girl with a gestational age of 38 weeks is presented. It was interesting to find an association of AFA with hypoplasia of hair, eyelashes, eyebrows and nails and a karyotype of trisomy 18 in this case...
  24. doi request reprint Restrictive dermopathy in a Turkish newborn
    Gözde Yeşil
    Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey
    Pediatr Dermatol 28:408-11. 2011
    ..The fetus had inherited both normal parental alleles, avoiding the recurrence of the disease...
  25. ncbi request reprint A new concept of skeletal dysplasias
    Beyhan Tuysuz
    Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Turk J Pediatr 46:197-203. 2004
    ..Therefore, these groups of disorders require management by a multidisciplinary team of specialists, including pediatricians, genetic specialists, orthopedists and psychiatrists...
  26. doi request reprint Unilateral cerebellar hypoplasia with different clinical features
    Gulcin Benbir
    Cerrahpasa Medical Faculty, Department of Neurology, Division of Pediatric Neurology, Istanbul University, Turkey
    Cerebellum 10:49-60. 2011
    ....
  27. ncbi request reprint Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology
    Riza Madazli
    Department of Obstetrics and Gynaecology, Cerrahpasa Medical Faculty, University of Istanbul, Turkey
    Fetal Diagn Ther 17:29-33. 2002
    ..Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita...