Wissenschaftliche Arbeiten

Prof. Dr. Yasemin Alanay

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

Zurück zum Profil

  1. Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

    American Journal of Medical Genetics Part A, 2021

    DOI 10.1002/ajmg.a.62021 PMID 33398909 4 Zitationen (Europe PMC) Quelle: OpenAlex

  2. Persistent and Stable Growth Promoting Effects of Vosoritide in Children With Achondroplasia for up to 2 Years: Results From the Ongoing Phase 3 Extension Study

    Journal of the Endocrine Society, 2021

    DOI 10.1210/jendso/bvab048.1368 Quelle: OpenAlex

  3. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

    Yearbook of pediatric endocrinology, 2021

    DOI 10.1530/ey.18.5.1 Quelle: OpenAlex

  4. Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders

    2020

    Quelle: OpenAlex

  5. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

    The Lancet, 2020

    DOI 10.1016/s0140-6736(20)31541-5 PMID 32891212 158 Zitationen (Europe PMC) Quelle: OpenAlex

  6. Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

    Molecular Syndromology, 2020

    DOI 10.1159/000509838 PMID 33224012 12 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  7. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

    The American Journal of Human Genetics, 2020

    DOI 10.1016/j.ajhg.2020.07.013 PMID 32763190 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  8. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

    Journal of Human Genetics, 2020

    DOI 10.1038/s10038-020-00871-0 PMID 33288834 6 Zitationen (Europe PMC) Quelle: OpenAlex

  9. The third family with TAF6‐related phenotype: Alazami‐Yuan syndrome

    Clinical Genetics, 2020

    DOI 10.1111/cge.13711 PMID 32030742 6 Zitationen (Europe PMC) Quelle: OpenAlex

  10. SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia

    Journal of the Endocrine Society, 2020

    DOI 10.1210/jendso/bvaa046.2081 Quelle: OpenAlex

  11. p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype

    European Journal of Medical Genetics, 2019

    DOI 10.1016/j.ejmg.2019.04.016 PMID 31048079 3 Zitationen (Europe PMC) Quelle: OpenAlex

  12. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Brain, 2019

    DOI 10.1093/brain/awz307 PMID 32979048 72 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  13. Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

    American Journal of Medical Genetics Part A, 2019

    DOI 10.1002/ajmg.a.61154 PMID 30980518 23 Zitationen (Europe PMC) Quelle: OpenAlex

  14. A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

    BMC Medical Genetics, 2019

    DOI 10.1186/s12881-019-0746-6 PMID 30642273 5 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  15. WAC geninde tanımlanan yeni bir varyant ve DeSanto-Shinawi Sendromu

    Bursa Uludag University - AVESIS, 2019

    Quelle: OpenAlex

  16. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Genetics in Medicine, 2018

    DOI 10.1038/s41436-018-0330-z PMID 30349098 116 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  17. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Nature Genetics, 2018

    DOI 10.1038/s41588-018-0166-0 PMID 30013181 75 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  18. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

    The Turkish Journal of Pediatrics, 2018

    DOI 10.24953/turkjped.2018.05.006 PMID 30968633 6 Zitationen (Europe PMC) Quelle: OpenAlex

  19. Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome

    Journal of Biotechnology, 2017

    DOI 10.1016/j.jbiotec.2017.06.647 Quelle: OpenAlex

  20. Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

    European Journal of Obstetrics & Gynecology and Reproductive Biology, 2017

    DOI 10.1016/j.ejogrb.2017.12.028 PMID 29275276 4 Zitationen (Europe PMC) Quelle: OpenAlex

  21. Parieto-occipital alopecia in early infancy mandates cranial imaging

    Clinical Dysmorphology, 2017

    DOI 10.1097/mcd.0000000000000206 PMID 29176365 1 Zitation (Europe PMC) Quelle: OpenAlex

  22. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

    The American Journal of Human Genetics, 2017

    DOI 10.1016/j.ajhg.2016.12.010 PMID 28065471 82 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  23. A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

    Journal of Bone and Mineral Research, 2017

    DOI 10.1002/jbmr.3095 PMID 28177155 59 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  24. Dental Findings and Mutational Analysis of a Case with Ehlers-Danlos Syndrome

    Journal of Dentistry and Oral Biology, 2017

    Quelle: OpenAlex

  25. Gorlin Syndrome in Eleven Patients

    The Journal of Pediatric Research, 2017

    DOI 10.4274/jpr.09326 Quelle: OpenAlex

  26. Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome

    Journal of Pediatric Hematology/Oncology, 2017

    DOI 10.1097/mph.0000000000000969 PMID 28902077 Quelle: OpenAlex

  27. Identification of XylT1 mutations in Desbusquois dysplasia type 2 and functional consequences on proteoglycan synthesis

    HAL, 2017

    Quelle: OpenAlex

  28. Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature

    Lupus, 2016

    DOI 10.1177/0961203316629000 PMID 26854080 21 Zitationen (Europe PMC) Quelle: OpenAlex

  29. Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

    55th ESPE Meeting, 2016

    DOI 10.5072/zenodo.15050 Quelle: OpenAlex

  30. Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

    Genetics in Medicine, 2016

    DOI 10.1038/gim.2015.188 PMID 26765342 37 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  31. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

    Clinical Genetics, 2016

    DOI 10.1111/cge.12885 PMID 28229453 17 Zitationen (Europe PMC) Quelle: OpenAlex

  32. AUTS2 Syndrome in a 68‐year‐old female: Natural history and further delineation of the phenotype

    American Journal of Medical Genetics Part A, 2016

    DOI 10.1002/ajmg.a.37882 PMID 27531620 10 Zitationen (Europe PMC) Quelle: OpenAlex

  33. Late Sequel of Meningococcemia: Skeletal Dysplasia

    The Journal of Pediatrics, 2016

    DOI 10.1016/j.jpeds.2016.02.022 PMID 26960252 1 Zitation (Europe PMC) Quelle: OpenAlex

  34. İskelet displazilerinde genel değerlendirme

    Türk Ortopedi ve Travmatoloji Birliği Derneği, 2016

    DOI 10.14292/totbid.dergisi.2016.33 Quelle: OpenAlex

  35. İskelet Displazilerine Yaklaşım

    Turkiye Klinikleri Medical Genetics - Special Topics, 2016

    Quelle: OpenAlex

  36. Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

    European Journal of Human Genetics, 2015

    DOI 10.1038/ejhg.2015.65 PMID 25944382 10 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  37. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    American Journal of Medical Genetics Part A, 2015

    DOI 10.1002/ajmg.a.36922 PMID 25604898 69 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  38. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

    Journal of Clinical Investigation, 2015

    DOI 10.1172/jci80102 PMID 26280580 74 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  39. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

    American Journal of Medical Genetics Part A, 2015

    DOI 10.1002/ajmg.a.37029 PMID 25808063 67 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  40. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

    Human Genetics, 2015

    DOI 10.1007/s00439-015-1535-8 PMID 25724810 61 Zitationen (Europe PMC) Quelle: OpenAlex

  41. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

    The American Journal of Human Genetics, 2015

    DOI 10.1016/j.ajhg.2015.04.004 PMID 25957469 52 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  42. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

    Orphanet Journal of Rare Diseases, 2015

    DOI 10.1186/s13023-015-0345-3 PMID 26419238 43 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  43. Experience of a skeletal dysplasia registry in Turkey: A five‐years retrospective analysis

    American Journal of Medical Genetics Part A, 2015

    DOI 10.1002/ajmg.a.37122 PMID 25931420 14 Zitationen (Europe PMC) Quelle: OpenAlex

  44. Hoyeraal–Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype

    Pediatric Dermatology, 2015

    DOI 10.1111/pde.12693 PMID 26446280 5 Zitationen (Europe PMC) Quelle: OpenAlex

  45. Late Sequel of Meningococcemia: Presenting as Skeletal Dysplasia

    54th ESPE Meeting (ESPE 2015), 2015

    Quelle: OpenAlex

  46. 中枢神経系疾患:電位依存性カリウムチャネル遺伝子KCNH1の変異がテンプル・バライスター症候群およびてんかんを引き起こす

    Nature Genetics, 2015

    Quelle: OpenAlex

  47. A custom Amplisec arrhytmia panel comprimising 68 cardiac chanelopathy genes is a gold standard for the rapid and sensitive detection of genetic variation in long Qt syndrome

    Bursa Uludag University - AVESIS, 2015

    Quelle: OpenAlex

  48. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

    Nature Genetics, 2014

    DOI 10.1038/ng.3153 PMID 25420144 128 Zitationen (Europe PMC) Quelle: OpenAlex

  49. XYLT1 Mutations in Desbuquois Dysplasia Type 2

    The American Journal of Human Genetics, 2014

    DOI 10.1016/j.ajhg.2014.01.020 PMID 24581741 95 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  50. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

    Orphanet Journal of Rare Diseases, 2014

    DOI 10.1186/1750-1172-9-60 PMID 24767306 31 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex