Wissenschaftliche Arbeiten

Prof. Dr. Yasemin Alanay

201 Publikationen. Neben jeder Publikation steht die Quelle der Angabe.

Zurück zum Profil

  1. Perinatal mortality analysis from 2001-2006 at Hacettepe University Hospital.

    2010

    Quelle: OpenAlex

  2. Cowden syndrome with bronchial asthma.

    PubMed, 2010

    PMID 20718196 Quelle: OpenAlex

  3. Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi

    Çocuk Sağlığı ve Hastalıkları Dergisi, 2010

    Quelle: OpenAlex

  4. ALX4 dysfunction disrupts craniofacial and epidermal development

    Human Molecular Genetics, 2009

    DOI 10.1093/hmg/ddp391 PMID 19692347 107 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  5. Identification of CANT1 Mutations in Desbuquois Dysplasia

    The American Journal of Human Genetics, 2009

    DOI 10.1016/j.ajhg.2009.10.001 PMID 19853239 76 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  6. PORCNmutations in focal dermal hypoplasia: coping with lethality

    Human Mutation, 2009

    DOI 10.1002/humu.20992 PMID 19309688 46 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  7. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

    Journal of Medical Genetics, 2009

    DOI 10.1136/jmg.2008.065201 PMID 19508970 32 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  8. OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

    Human Mutation, 2009

    DOI 10.1002/humu.21150 PMID 19877176 31 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  9. Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    The American Journal of Human Genetics, 2009

    DOI 10.1016/j.ajhg.2009.11.005 PMID 20004766 30 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  10. Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

    European Journal of Pediatrics, 2009

    DOI 10.1007/s00431-009-1028-7 PMID 19653001 18 Zitationen (Europe PMC) Quelle: OpenAlex

  11. Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia

    Pediatric Blood & Cancer, 2009

    DOI 10.1002/pbc.21966 PMID 19373780 17 Zitationen (Europe PMC) Quelle: OpenAlex

  12. Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth

    Journal of Pediatric Surgery, 2009

    DOI 10.1016/j.jpedsurg.2009.10.059 PMID 20105568 6 Zitationen (Europe PMC) Quelle: OpenAlex

  13. Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients

    The Turkish Journal of Pediatrics, 2009

    DOI 10.24953/turkjped.2009.2288 PMID 19817261 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  14. A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum

    Acta Ophthalmologica, 2009

    DOI 10.1111/j.1600-0420.2007.01082.x PMID 18616618 6 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  15. PORCNmutations in focal dermal hypoplasia: coping with lethality

    Human Mutation, 2009

    DOI 10.1002/humu.21125 Quelle: OpenAlex

  16. Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

    PubMed, 2009

    DOI 10.5167/uzh-31672 PMID 20112607 5 Zitationen (Europe PMC) Quelle: OpenAlex

  17. Le Fort III Bipartition Osteotomy to Treat a Rare Craniofacial Anomaly

    Journal of Craniofacial Surgery, 2009

    DOI 10.1097/scs.0b013e3181abb29f PMID 19634215 4 Zitationen (Europe PMC) Quelle: OpenAlex

  18. Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: A third patient suggesting autosomal recessive inheritance

    American Journal of Medical Genetics Part A, 2009

    DOI 10.1002/ajmg.a.32825 PMID 19449409 Frei zugänglicher VolltextQuelle: OpenAlex

  19. Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

    American Journal of Medical Genetics Part A, 2008

    DOI 10.1002/ajmg.a.32269 PMID 18627037 48 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  20. TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

    The American Journal of Human Genetics, 2008

    DOI 10.1016/j.ajhg.2008.10.011 PMID 19068278 58 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  21. Clinical and radiographic delineation of odontochondrodysplasia

    American Journal of Medical Genetics Part A, 2008

    DOI 10.1002/ajmg.a.32214 PMID 18241073 13 Zitationen (Europe PMC) Quelle: OpenAlex

  22. Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

    Pediatrics International, 2008

    DOI 10.1111/j.1442-200x.2008.02752.x PMID 19067906 6 Zitationen (Europe PMC) Quelle: OpenAlex

  23. Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance

    The Turkish Journal of Pediatrics, 2008

    DOI 10.24953/turkjpediatr.2008.2431 PMID 18773678 3 Zitationen (Europe PMC) Quelle: OpenAlex

  24. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH

    European Journal of Medical Genetics, 2008

    DOI 10.1016/j.ejmg.2008.03.002 PMID 18440888 2 Zitationen (Europe PMC) Quelle: OpenAlex

  25. O.024 Additional malformations in craniofacial surgery patients

    Journal of Cranio-Maxillofacial Surgery, 2008

    DOI 10.1016/s1010-5182(08)71148-x Quelle: OpenAlex

  26. The Skeletal Dysplasias

    Annals of the New York Academy of Sciences, 2007

    DOI 10.1196/annals.1402.072 PMID 18056050 42 Zitationen (Europe PMC) Quelle: OpenAlex

  27. A multidisciplinary approach to the management of individuals with fragile X syndrome

    Journal of Intellectual Disability Research, 2007

    DOI 10.1111/j.1365-2788.2006.00942.x PMID 17217479 24 Zitationen (Europe PMC) Quelle: OpenAlex

  28. Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

    American Journal of Medical Genetics Part A, 2007

    DOI 10.1002/ajmg.a.31711 PMID 17486589 23 Zitationen (Europe PMC) Quelle: OpenAlex

  29. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia

    Journal of Neurosurgery Pediatrics, 2007

    DOI 10.3171/ped-07/12/504 PMID 18154022 15 Zitationen (Europe PMC) Quelle: OpenAlex

  30. Distal partial trisomy 1q: report of two cases and a review of the literature

    Prenatal Diagnosis, 2007

    DOI 10.1002/pd.1788 PMID 17605151 15 Zitationen (Europe PMC) Quelle: OpenAlex

  31. Cerebro-facio-thoracic dysplasia: expanding the phenotype

    Clinical Dysmorphology, 2007

    DOI 10.1097/mcd.0b013e328012e292 PMID 17351359 7 Zitationen (Europe PMC) Quelle: OpenAlex

  32. Cavernous malformation with Poland–Möbius syndrome

    Journal of Neurosurgery Pediatrics, 2007

    DOI 10.3171/ped-07/07/079 PMID 17644927 3 Zitationen (Europe PMC) Quelle: OpenAlex

  33. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    Journal of Medical Genetics, 2006

    DOI 10.1136/jmg.2006.043687 PMID 16801345 87 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  34. Congenital contractural arachnodactyly (Beals syndrome)

    Orphanet Journal of Rare Diseases, 2006

    DOI 10.1186/1750-1172-1-20 PMID 16740166 46 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  35. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

    American Journal of Medical Genetics Part A, 2006

    DOI 10.1002/ajmg.a.31081 PMID 16470600 42 Zitationen (Europe PMC) Quelle: OpenAlex

  36. Spondylo‐ocular syndrome: A new entity involving the eye and spine

    American Journal of Medical Genetics Part A, 2006

    DOI 10.1002/ajmg.a.31119 PMID 16470687 11 Zitationen (Europe PMC) Quelle: OpenAlex

  37. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

    Pediatric Radiology, 2006

    DOI 10.1007/s00247-006-0217-z PMID 16715218 4 Zitationen (Europe PMC) Quelle: OpenAlex

  38. Detection of a complex chromosomal aberration in a dysmorphic patient by multicolor FISH and microarray CGH

    Genetic counseling, 2006

    Quelle: OpenAlex

  39. The Evolution of Sagittal Segmental Alignment of the Spine During Childhood

    Spine, 2005

    DOI 10.1097/01.brs.0000149074.21550.32 PMID 15626988 73 Zitationen (Europe PMC) Quelle: OpenAlex

  40. Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population

    The Turkish Journal of Pediatrics, 2005

    DOI 10.24953/turkjpediatr.2005.2740 PMID 16363341 15 Zitationen (Europe PMC) Quelle: OpenAlex

  41. Is Dandy-Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations

    American Journal of Medical Genetics Part A, 2005

    DOI 10.1002/ajmg.a.30808 PMID 15948192 25 Zitationen (Europe PMC) Quelle: OpenAlex

  42. Celiac disease screening in 100 Turkish children with Down syndrome

    The Turkish Journal of Pediatrics, 2005

    DOI 10.24953/turkjpediatr.2005.2701 PMID 16052853 11 Zitationen (Europe PMC) Quelle: OpenAlex

  43. Response to the letter to “MTHTR 677C‐T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women”

    American Journal of Medical Genetics Part A, 2005

    DOI 10.1002/ajmg.a.30465 Quelle: OpenAlex

  44. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

    American Journal of Medical Genetics Part A, 2004

    DOI 10.1002/ajmg.a.30231 PMID 15523624 125 Zitationen (Europe PMC) Quelle: OpenAlex

  45. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women

    American Journal of Medical Genetics Part A, 2004

    DOI 10.1002/ajmg.a.20432 PMID 15103709 34 Zitationen (Europe PMC) Quelle: OpenAlex

  46. Noonan syndrome and systemic lupus erythematosus: presentation in childhood

    Clinical Dysmorphology, 2004

    DOI 10.1097/01.mcd.0000127467.04018.6d PMID 15194952 19 Zitationen (Europe PMC) Quelle: OpenAlex

  47. Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance

    American Journal of Medical Genetics Part A, 2004

    DOI 10.1002/ajmg.a.30114 PMID 15368502 1 Zitation (Europe PMC) Quelle: OpenAlex

  48. Perinatal mortality rate – hospital based study during 1998–2001 at Hacettepe University

    Journal of Perinatal Medicine, 2003

    DOI 10.1515/jpm.2003.068 PMID 14601268 5 Zitationen (Europe PMC) Quelle: OpenAlex

  49. Mutations in the gene encoding the RER proteinFKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86(4):551-9 (2010).

    Quelle: Profilseite auf acibadem.com.tr

  50. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

    Quelle: Profilseite auf acibadem.com.tr