Ercan Mihci

Summary

Affiliation: Akdeniz University
Country: Turkey

Publications

  1. pmc Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene
    Ercan Mihci
    Akdeniz University School of Medicine, Department of Pediatrics, Division of Clinical Genetics, Antalya, Turkey
    J Clin Res Pediatr Endocrinol 4:101-3. 2012
  2. ncbi request reprint Oral-facial digital syndrome type 1
    Ercan Mihci
    Akdeniz University School of Medicine Department of Pediatrics, Antalya, Turkey
    Indian Pediatr 44:854-6. 2007
  3. doi request reprint DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection
    Ercan Mihci
    Division of Clinical Genetics, Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey
    Am J Med Genet A 146:1483-5. 2008
  4. doi request reprint A patient with Down syndrome with a de novo derivative chromosome 21
    Zafer Cetin
    Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Gene 507:159-64. 2012
  5. doi request reprint A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement
    Zafer Cetin
    Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Gene 516:176-80. 2013
  6. doi request reprint Prenatal diagnosis of mobile flap-like tissue on the ventricular septal defect in a newborn with trisomy 18
    Abdullah Kocabas
    Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Akdeniz University, Antalya, Turkey
    Echocardiography 28:E191-3. 2011
  7. doi request reprint Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome
    Ercan Mihci
    Division of Clinical Genetics, Department of Pediatrics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Anadolu Kardiyol Derg 10:440-5. 2010
  8. ncbi request reprint Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies
    Ercan Mihci
    Division of Clinical Genetics, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
    Turk J Pediatr 51:453-9. 2009
  9. ncbi request reprint Maternal origin and clinical findings in a case with trisomy 22
    Ercan Mihci
    Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
    Turk J Pediatr 49:322-6. 2007
  10. doi request reprint Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12
    Zafer Cetin
    Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Am J Med Genet A 155:349-52. 2011

Collaborators

Detail Information

Publications18

  1. pmc Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene
    Ercan Mihci
    Akdeniz University School of Medicine, Department of Pediatrics, Division of Clinical Genetics, Antalya, Turkey
    J Clin Res Pediatr Endocrinol 4:101-3. 2012
    ..This patient demonstrates that the other findings of this syndrome might be obscured by a diagnosis of isolated neonatal diabetes...
  2. ncbi request reprint Oral-facial digital syndrome type 1
    Ercan Mihci
    Akdeniz University School of Medicine Department of Pediatrics, Antalya, Turkey
    Indian Pediatr 44:854-6. 2007
    ..Surgical intervention was done. Molecular analysis revealed absence of OFD gene...
  3. doi request reprint DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection
    Ercan Mihci
    Division of Clinical Genetics, Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey
    Am J Med Genet A 146:1483-5. 2008
  4. doi request reprint A patient with Down syndrome with a de novo derivative chromosome 21
    Zafer Cetin
    Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Gene 507:159-64. 2012
    ..However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions...
  5. doi request reprint A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement
    Zafer Cetin
    Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Gene 516:176-80. 2013
    ..This is the first report of an individual with an apparently balanced complex chromosomal rearrangement in conjunction with a microdeletion at 5q12.1-5q12.3 in which there are both mental-motor retardation and dysmorphia...
  6. doi request reprint Prenatal diagnosis of mobile flap-like tissue on the ventricular septal defect in a newborn with trisomy 18
    Abdullah Kocabas
    Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Akdeniz University, Antalya, Turkey
    Echocardiography 28:E191-3. 2011
    ..This is a case report of a baby born with trisomy 18 (postnatal diagnosis) in whom there was an unusual echocardiographic appearance of a mobile structure ("flap-like") around the area of a VSD-which was imaged prenatally...
  7. doi request reprint Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome
    Ercan Mihci
    Division of Clinical Genetics, Department of Pediatrics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Anadolu Kardiyol Derg 10:440-5. 2010
    ..The purpose of this work was to assess abnormalities of the thyroid in relation to the frequency and type of CHD on admission among children with DS...
  8. ncbi request reprint Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies
    Ercan Mihci
    Division of Clinical Genetics, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
    Turk J Pediatr 51:453-9. 2009
    ..Our study confirms that the subtelomeric rearrangements are a significant cause of idiopathic MR with dysmorphic features...
  9. ncbi request reprint Maternal origin and clinical findings in a case with trisomy 22
    Ercan Mihci
    Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
    Turk J Pediatr 49:322-6. 2007
    ..We believe that this patient will contribute to the literature both by clinical findings and short life span associated with maternal origin of extra chromosome 22...
  10. doi request reprint Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12
    Zafer Cetin
    Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    Am J Med Genet A 155:349-52. 2011
    ..Our observation shows that the centric fission of chromosome 12 can be a new mechanism for generation of a partial centromere and trisomy 12p syndrome...
  11. ncbi request reprint Aplasia cutis congenita: three cases with three different underlying etiologies
    Ercan Mihci
    Division of Clinical Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey
    Turk J Pediatr 51:510-4. 2009
    ..The aim of the present report is to increase awareness of these skin defects and emphasize the importance of underlying etiologies...
  12. doi request reprint Neutrophil oxidative metabolism in Down syndrome patients with congenital heart defects
    Ozlem Akinci
    Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey
    Environ Mol Mutagen 51:57-63. 2010
    ..Patients with DS with and without CHD showed no significant differences in any of the measured parameters. The data suggest that CHD observed in patients with DS does not result from altered redox metabolism associated with the disease...
  13. doi request reprint Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome
    Banu Guzel Nur
    Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey
    Am J Med Genet A 161:2311-5. 2013
    ..We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome. © 2013 Wiley Periodicals, Inc. ..
  14. ncbi request reprint Unilateral pulmonary agenesis associated with colloidal goiter in a newborn: a case report
    Guzide Ayse Gokhan
    Department of Pathology, Akdeniz University Faculty of Medicine, Antalya, Turkey
    Turk J Pediatr 47:295-7. 2005
    ..To our knowledge, this is the first case of pulmonary agenesis associated with colloidal goiter...
  15. ncbi request reprint Currarino syndrome associated with penoscrotal inversion and perineal fissure
    Adnan Aslan
    Department of Pediatric Surgery, School of Medicine, Akdeniz University, Antalya, Turkey
    Pediatr Surg Int 21:733-5. 2005
    ..Histopathological examination demonstrated that the sac contained glial neuronal islands and nerve fibers. The boy has no neurologic deficits and seems to be well. To our knowledge, these associated malformations are extremely rare...
  16. ncbi request reprint Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings
    Ercan Mihci
    Department of Pediatric Medical Genetics, Akdeniz University School of Medicine, Antalya, Turkey
    Fetal Diagn Ther 20:167-70. 2005
    ..We report a case of Neu-Laxova syndrome in a fetus at 22 weeks with the ultrasonographic findings of characteristic facial findings, limb contractures, kyphosis and polyhydramnios. Pathological and ultrasonographic studies are discussed...
  17. ncbi request reprint Primary atypical teratoid/rhabdoid tumor of the clival region. Case report
    Saim Kazan
    Department of Neurosurgery, Akdeniz University, Antalya, Turkey
    J Neurosurg 106:308-11. 2007
    ..To their knowledge, this location of an atypical teratoid/rhabdoid tumor has not been described in the literature...
  18. ncbi request reprint PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices
    Cicek Durusoy
    Department of Dermatology, Baskent University School of Medicine, Alanya, Turkey
    J Dermatol 33:219-22. 2006
    ..He also had bilateral cutaneous ulcerations on the helices. Our case report indicates that ulceration of a hemangioma can occur before significant proliferation and may even be present congenitally...