Yasemin Alanay

Summary

Affiliation: Hacettepe University
Country: Turkey

Publications

  1. ncbi request reprint Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance
    Yasemin Alanay
    Clinical Genetics Section, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 130:92-5. 2004
  2. ncbi request reprint Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    Pediatr Radiol 36:970-3. 2006
  3. ncbi request reprint Noonan syndrome and systemic lupus erythematosus: presentation in childhood
    Yasemin Alanay
    Hacettepe University, Ihsan Dogramaci Children s Hospital, Department of Paediatrics, Clinical Genetics Unit, Ankara, Turkey
    Clin Dysmorphol 13:161-3. 2004
  4. ncbi request reprint Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006)
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    Am J Med Genet A 143:1159-68. 2007
  5. ncbi request reprint A multidisciplinary approach to the management of individuals with fragile X syndrome
    Y Alanay
    Clinical Genetics Section, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    J Intellect Disabil Res 51:151-61. 2007
  6. ncbi request reprint Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations
    Yasemin Alanay
    Clinical Genetics Section, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 136:265-8. 2005
  7. ncbi request reprint Spondylo-ocular syndrome: a new entity involving the eye and spine
    Yasemin Alanay
    Department of Pediatrics, Clinical Genetics Section, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 140:652-6. 2006
  8. pmc Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
    Yasemin Alanay
    Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey
    Am J Hum Genet 86:551-9. 2010
  9. ncbi request reprint Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis
    Sule Unal
    Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey
    Pediatr Blood Cancer 61:302-5. 2014
  10. doi request reprint A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis
    Gulen Eda Utine
    Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey
    Am J Med Genet A 152:947-9. 2010

Collaborators

Detail Information

Publications46

  1. ncbi request reprint Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance
    Yasemin Alanay
    Clinical Genetics Section, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 130:92-5. 2004
    ..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
  2. ncbi request reprint Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    Pediatr Radiol 36:970-3. 2006
    ..This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder...
  3. ncbi request reprint Noonan syndrome and systemic lupus erythematosus: presentation in childhood
    Yasemin Alanay
    Hacettepe University, Ihsan Dogramaci Children s Hospital, Department of Paediatrics, Clinical Genetics Unit, Ankara, Turkey
    Clin Dysmorphol 13:161-3. 2004
    ..In this report we present an 11-year-old boy with Noonan syndrome and systemic lupus erythematosus, supporting the previous observations of an association between these two conditions...
  4. ncbi request reprint Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006)
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    Am J Med Genet A 143:1159-68. 2007
    ..This study aims to provide differential diagnosis of entities to be considered when a fetus or newborn is found to have congenital bowing/angulation of the femur...
  5. ncbi request reprint A multidisciplinary approach to the management of individuals with fragile X syndrome
    Y Alanay
    Clinical Genetics Section, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    J Intellect Disabil Res 51:151-61. 2007
    ..However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet...
  6. ncbi request reprint Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations
    Yasemin Alanay
    Clinical Genetics Section, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 136:265-8. 2005
    ..Detailed examination of 13q (13q22-33) by means of conventional and molecular cytogenetic methods is necessary in cases with DWM...
  7. ncbi request reprint Spondylo-ocular syndrome: a new entity involving the eye and spine
    Yasemin Alanay
    Department of Pediatrics, Clinical Genetics Section, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 140:652-6. 2006
  8. pmc Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
    Yasemin Alanay
    Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey
    Am J Hum Genet 86:551-9. 2010
    ..Further, we determined that FKBP10 mutations affect type I procollagen secretion. These findings identify a previously unrecognized mechanism in the pathogenesis of OI...
  9. ncbi request reprint Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis
    Sule Unal
    Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey
    Pediatr Blood Cancer 61:302-5. 2014
    ..The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center...
  10. doi request reprint A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis
    Gulen Eda Utine
    Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey
    Am J Med Genet A 152:947-9. 2010
    ..We report on a second patient confirming Tsukahara syndrome as an established entity...
  11. doi request reprint A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy
    G Eda Utine
    Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey
    J Child Neurol 28:926-32. 2013
    ....
  12. ncbi request reprint Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
    Esra Kiliç
    Department of Pediatrics, Division of Pediatric Genetic, Hacettepe University Children s Hospital, 06100 Ankara, Turkey
    Eur J Pediatr 171:1567-71. 2012
    ..The presented case is the second youngest case developing stroke and moyamoya disease...
  13. ncbi request reprint Etiological yield of SNP microarrays in idiopathic intellectual disability
    G Eda Utine
    Hacettepe University, Department of Pediatrics, Ankara, Turkey Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey Electronic address
    Eur J Paediatr Neurol 18:327-37. 2014
    ....
  14. ncbi request reprint Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population
    Koray Boduroglu
    Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 47:327-33. 2005
    ..8 times increase in this risk. These observations led us to conclude that although not statistically significant, MTHFR 1298AC polymorphism might be a risk factor for the occurrence of NTDs in the Turkish population...
  15. ncbi request reprint Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
    Gulen Eda Utine
    Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 51:199-206. 2009
    ..Mild retardation without dysmorphic features in one of these patients suggests offering subtelomeric analysis to a wide spectrum of mental retardation...
  16. pmc Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report
    Huseyin Demirbilek
    Hacettepe University Faculty of Medicine, Department of Pediatrics Endocrinology, Ankara, Turkey
    J Clin Res Pediatr Endocrinol 4:34-8. 2012
    ..Herein, we report a case of HPP who presented with pyridoxine-responsive seizures in the early neonatal period and was found to have hypercalcemia, skeletal demineralization and increased intracranial pressure...
  17. ncbi request reprint A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype
    Pelin Ozlem Simsek-Kiper
    Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 53:558-60. 2011
    ....
  18. doi request reprint A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum
    Nilufer Berker
    Ulucanlar Eye Research Hospital, Ankara, Turkey
    Acta Ophthalmol 87:52-7. 2009
    ..To test the association of genes involved in anterior segment development in a family with autosomal dominantly inherited Peters' anomaly (PA) with a unique ocular phenotype...
  19. ncbi request reprint Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance
    G Eda Utine
    Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 50:287-90. 2008
    ..Holoprosencephaly and polydactyly with or without other findings in chromosomally normal patients should raise the suspicion of pseudo-trisomy 13 syndrome, particularly when parental consanguinity is present...
  20. pmc Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
    Elif Uz
    Gene Mapping Laboratory, Department of Medical Genetics, Hacettepe University Medical Faculty, Sihhiye, Ankara, Turkey
    Am J Hum Genet 86:789-96. 2010
    ..This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans...
  21. doi request reprint Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
    Eda G Utine
    Clinical Genetics Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey
    Eur J Med Genet 51:343-50. 2008
    ..Elucidation of this complex aberration required combination of the whole cytogenetic toolbox...
  22. doi request reprint Intracranial and extracranial malformations in patients with craniofacial anomalies
    Gokhan Tuncbilek
    Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey
    J Craniofac Surg 21:1460-4. 2010
    ..Additional intracranial and extracranial malformations in a patient with craniofacial deformity may negatively affect the outcome of the surgery and the quality of life...
  23. ncbi request reprint Celiac disease screening in 100 Turkish children with Down syndrome
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 47:138-40. 2005
    ..Despite the small number of patients in our group, this result yielding 1% EMA-positivity is the lowest yet determined among DS patients. It has led us to discuss whether or not a change in our screening strategy is necessary...
  24. doi request reprint Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance
    Pelin Özlem Simsek Kiper
    Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 155:2288-92. 2011
    ..Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance...
  25. pmc A review of the principles of radiological assessment of skeletal dysplasias
    Yasemin Alanay
    Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey
    J Clin Res Pediatr Endocrinol 3:163-78. 2011
    ..This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings...
  26. ncbi request reprint Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
    Pelin Ozlem Simsek
    Unit of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 51:294-7. 2009
    ..Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations...
  27. ncbi request reprint Celiac disease in williams-beuren syndrome
    Pelin Ozlem Simsek-Kiper
    Units of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 56:154-9. 2014
    ..Anti-tissue transglutaminase and anti-endomysial antibodies may help to identify those individuals in whom intestinal biopsy is indicated for the diagnosis of celiac disease. ..
  28. ncbi request reprint A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism
    Pelin Ozlem Simsek-Kiper
    Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 56:80-4. 2014
    ....
  29. doi request reprint TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
    Yasemin Alanay
    Department of Pediatrics, Pediatric Genetics, Hacettepe University Medical Faculty, Ankara, Turkey Department of Pediatrics, Pediatric Genetics, Acibadem University Medical Faculty, Istanbul, Turkey
    Am J Med Genet A 164:291-304. 2014
    ..TMCO1-defect syndrome shares many features with CFT. This study supports the fact that "TMCO1-defect syndrome," initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum...
  30. ncbi request reprint Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene
    Esra Kiliç
    Division of Clinical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 54:198-202. 2012
    ..Here, we describe a LDS patient who presented with arterial tortuosity and saccular aneurysm...
  31. pmc Congenital contractural arachnodactyly (Beals syndrome)
    Ergul Tuncbilek
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey
    Orphanet J Rare Dis 1:20. 2006
    ..Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended...
  32. ncbi request reprint Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
    Gülten Türkkani-Asal
    Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 51:493-6. 2009
    ..With this report, we once more emphasize the difficulty in assessing young individuals with CHH presenting with mild ectodermal findings and subtle radiographic changes...
  33. ncbi request reprint Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis
    Gokhan Tuncbilek
    Department of Plastic and Reconstructive Surgery, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey
    J Craniofac Surg 20:1056-8. 2009
    ..We suggest Le Fort III bipartition osteotomy in selected cases to reduce the distance between maxillary segments in patients with very wide clefts...
  34. doi request reprint Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia
    Neriman Sari
    Department of Pediatric Oncology, Ankara Oncology Hospital, Ankara, Turkey
    Pediatr Blood Cancer 53:208-10. 2009
    ..This is a novel presentation of Fanconi anemia with this cytogenetic abnormality...
  35. ncbi request reprint Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects
    Umit M Sahiner
    Pediatric Cardiology, Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey
    Pediatr Int 56:167-72. 2014
    ..In addition, the relationship between these gene polymorphisms and homocysteine level was determined in Turkish subjects...
  36. doi request reprint Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth
    Ozlem Boybeyi
    Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey
    J Pediatr Surg 45:E19-23. 2010
    ..The finding of hemihyperplasia prompts careful examination for associated lipomatous lesions. Close follow-up is required because progressive growth of lipomatous lesions can be encountered as well as recurrence after excision...
  37. ncbi request reprint Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
    Koray Boduroglu
    Department of Pediatrics, Genetics Unit, Hacettepe University, Ihsan Dogramaci Children s Hospital, 06100 Ankara, Turkey
    Am J Med Genet A 127:5-10. 2004
    ..The data presented in this study fail to support the relationship between MTHFR 677C > T and 1298A > C polymorphisms and risk of having a child with DS...
  38. ncbi request reprint Cowden syndrome with bronchial asthma
    Yasemin Ozsurekci
    Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 52:330-2. 2010
    ..Herein, we describe a boy with CS referred to the pediatric allergy unit with bronchial asthma symptoms. This patient is one of the very few reported cases with CS with lung disease and possibly the first with bronchial asthma...
  39. doi request reprint Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
    Faysal Gok
    Department of Pediatric Nephrology and Rheumatology, Gulhane Military Medical Academy, School of Medicine, 06018 Etlik, Ankara, Turkey
    Eur J Pediatr 169:363-7. 2010
    ..Herein, we report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings...
  40. ncbi request reprint The evolution of sagittal segmental alignment of the spine during childhood
    Akin Cil
    Department of Orthopedics, Hacettepe University, Faculty of Medicine, Ankara, Turkey
    Spine (Phila Pa 1976) 30:93-100. 2005
    ..Cross-sectional...
  41. ncbi request reprint The skeletal dysplasias: clinical-molecular correlations
    David L Rimoin
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, 665W, Los Angeles, CA 90048, USA
    Ann N Y Acad Sci 1117:302-9. 2007
    ..Instructions on accessing the Registry, using the diagnostic services provided and contributing cases for collaborative research can be found at http://www.csmc.edu/skeletaldysplasia...
  42. ncbi request reprint Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
    Russia Ha-Vinh
    Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:115-20. 2004
    ..Collagen degradation products in urine and mutation analysis of PLOD2 may be used to diagnose BS and differentiate it from OI...
  43. pmc A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
    Louise S Bicknell
    Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
    J Med Genet 44:89-98. 2007
    ..To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied...
  44. ncbi request reprint Cerebro-facio-thoracic dysplasia: expanding the phenotype
    Deirdre Cilliers
    Academic Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, University of Manchester, Manchester, UK
    Clin Dysmorphol 16:121-5. 2007
    ..In addition, he has hypoplasia of the corpus callosum. These cases illustrate the expanding phenotype of this condition, and support the hypothesis that this is an autosomal recessive condition...
  45. ncbi request reprint Cavernous malformation with Poland-Möbius syndrome. Case illustration
    Melike Mut
    Department of Neurosurgery, Yeditepe University, Istanbul, Turkey
    J Neurosurg 107:79. 2007
  46. ncbi request reprint Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
    Raffaele Renella
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:541-50. 2006
    ..The notion of recessive inheritance hitherto assumed is challenged by the observation of two apparently dominant pedigrees...