Travaux scientifiques

Prof. Dr. Yasemin Alanay

201 publications. La source de l’information est indiquée à côté de chaque publication.

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  1. Etiological yield of SNP microarrays in idiopathic intellectual disability

    European Journal of Paediatric Neurology, 2014

    DOI 10.1016/j.ejpn.2014.01.004 PMID 24508361 23 citations (Europe PMC) Source : OpenAlex

  2. Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration

    Clinical Dysmorphology, 2014

    DOI 10.1097/mcd.0000000000000042 PMID 25144152 6 citations (Europe PMC) Source : OpenAlex

  3. Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families.

    PubMed, 2014

    PMID 24783656 2 citations (Europe PMC) Source : OpenAlex

  4. A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, 2013

    DOI 10.1093/hmg/ddt366 PMID 23906836 191 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  5. Mutations in the interleukin receptor IL 11 RA cause autosomal recessive Crouzon‐like craniosynostosis

    Molecular Genetics & Genomic Medicine, 2013

    DOI 10.1002/mgg3.28 PMID 24498618 67 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  6. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

    Human Genetics, 2013

    DOI 10.1007/s00439-013-1295-2 PMID 23568615 61 citations (Europe PMC) Source : OpenAlex

  7. A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

    Journal of Child Neurology, 2013

    DOI 10.1177/0883073813484967 PMID 23611888 61 citations (Europe PMC) Source : OpenAlex

  8. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused byPAPSS2Mutations

    Human Mutation, 2013

    DOI 10.1002/humu.22377 PMID 23824674 30 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  9. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

    American Journal of Medical Genetics Part A, 2013

    DOI 10.1002/ajmg.a.36248 PMID 24194475 29 citations (Europe PMC) Source : OpenAlex

  10. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

    Human Molecular Genetics, 2013

    DOI 10.1093/hmg/ddt014 PMID 23335589 26 citations (Europe PMC) Source : OpenAlex

  11. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

    Pediatric Blood & Cancer, 2013

    DOI 10.1002/pbc.24783 PMID 24106199 18 citations (Europe PMC) Source : OpenAlex

  12. Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

    Pediatrics International, 2013

    DOI 10.1111/ped.12222 PMID 24112451 12 citations (Europe PMC) Source : OpenAlex

  13. Report of a patient with Temple–Baraitser syndrome

    American Journal of Medical Genetics Part A, 2013

    DOI 10.1002/ajmg.a.36344 PMID 24357613 9 citations (Europe PMC) Source : OpenAlex

  14. Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome

    American Journal of Medical Genetics Part A, 2013

    DOI 10.1002/ajmg.a.36207 PMID 24259304 4 citations (Europe PMC) Source : OpenAlex

  15. FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

    Elsevier eBooks, 2013

    DOI 10.1016/b978-0-12-397165-4.00015-0 Source : OpenAlex

  16. Three patients resembling Teebi–Shaltout syndrome

    American Journal of Medical Genetics Part A, 2013

    DOI 10.1002/ajmg.a.36082 PMID 23918592 Source : OpenAlex

  17. Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    The American Journal of Human Genetics, 2012

    DOI 10.1016/j.ajhg.2011.12.023 PMID 22305528 175 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  18. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

    Human Genetics, 2012

    DOI 10.1007/s00439-012-1197-8 PMID 22773132 62 citations (Europe PMC) Source : OpenAlex

  19. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

    American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2012

    DOI 10.1002/ajmg.c.31333 PMID 22791401 70 citations (Europe PMC) Source : OpenAlex

  20. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

    Human Mutation, 2012

    DOI 10.1002/humu.22104 PMID 22539336 49 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  21. IMPAD1 mutations in two Catel‐Manzke like patients

    American Journal of Medical Genetics Part A, 2012

    DOI 10.1002/ajmg.a.35504 PMID 22887726 26 citations (Europe PMC) Source : OpenAlex

  22. Clinical and molecular analysis of RASopathies in a group of Turkish patients

    Clinical Genetics, 2012

    DOI 10.1111/j.1399-0004.2012.01875.x PMID 22420426 28 citations (Europe PMC) Source : OpenAlex

  23. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)

    European Journal of Pediatrics, 2012

    DOI 10.1007/s00431-012-1732-6 PMID 22527565 13 citations (Europe PMC) Source : OpenAlex

  24. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene

    The Turkish Journal of Pediatrics, 2012

    DOI 10.24953/turkjpediatr.2012.1621 PMID 22734312 7 citations (Europe PMC) Source : OpenAlex

  25. Wiedemann–Rautenstrauch syndrome: Report of a variant case

    American Journal of Medical Genetics Part A, 2012

    DOI 10.1002/ajmg.a.35336 PMID 22585414 6 citations (Europe PMC) Source : OpenAlex

  26. Severe neurologic manifestations from cervical spine instability in spondylo‐megaepiphyseal‐metaphyseal dysplasia

    American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2012

    DOI 10.1002/ajmg.c.31339 PMID 22791571 8 citations (Europe PMC) Source : OpenAlex

  27. MRI findings of intracranial malformations in a case with Fraser syndrome

    Clinical Dysmorphology, 2012

    DOI 10.1097/mcd.0b013e3283571699 PMID 22827970 1 citation (Europe PMC) Source : OpenAlex

  28. The Coffin-Siris and Nicolaides Baraitser syndromes – clinical phenotypes of 43 prerviously unreported patients and mutational spectrum of the SWI/SNF complex

    2012

    Source : OpenAlex

  29. Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases

    IRIS, 2011

    Source : OpenAlex

  30. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

    Nature Genetics, 2011

    DOI 10.1038/ng.826 PMID 21552264 192 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  31. Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

    The American Journal of Human Genetics, 2011

    DOI 10.1016/j.ajhg.2011.05.012 PMID 21683322 182 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  32. Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

    The American Journal of Human Genetics, 2011

    DOI 10.1016/j.ajhg.2011.09.015 PMID 22019272 151 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  33. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

    Nature Genetics, 2011

    DOI 10.1038/ng.749 PMID 21217752 129 citations (Europe PMC) Source : OpenAlex

  34. A mutation screen in patients with Kabuki syndrome

    Human Genetics, 2011

    DOI 10.1007/s00439-011-1004-y PMID 21607748 98 citations (Europe PMC) Source : OpenAlex

  35. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

    Journal of Medical Genetics, 2011

    DOI 10.1136/jmg.2010.087544 PMID 21415077 50 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  36. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

    Human Mutation, 2011

    DOI 10.1002/humu.22012 PMID 22190451 31 citations (Europe PMC) Source : OpenAlex

  37. Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability

    Molecular Syndromology, 2011

    DOI 10.1159/000334289 PMID 22511893 8 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  38. Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance

    American Journal of Medical Genetics Part A, 2011

    DOI 10.1002/ajmg.a.34163 PMID 21834032 8 citations (Europe PMC) Source : OpenAlex

  39. A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype

    The Turkish Journal of Pediatrics, 2011

    DOI 10.24953/turkjpediatr.2011.1818 PMID 22272459 2 citations (Europe PMC) Source : OpenAlex

  40. Spondyloenchondrodysplasia: a rare cause of short stature

    The Turkish Journal of Pediatrics, 2011

    DOI 10.24953/turkjpediatr.2011.1803 PMID 21980854 1 citation (Europe PMC) Source : OpenAlex

  41. Opinions of Turkish physicians towards termination of pregnancy for fetal disorders.

    PubMed, 2011

    PMID 22303801 2 citations (Europe PMC) Source : OpenAlex

  42. Front & Back Matter

    Molecular Syndromology, 2011

    DOI 10.1159/000336788 Source : OpenAlex

  43. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

    The American Journal of Human Genetics, 2010

    DOI 10.1016/j.ajhg.2010.02.022 PMID 20362275 223 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  44. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

    The American Journal of Human Genetics, 2010

    DOI 10.1016/j.ajhg.2010.04.002 PMID 20451171 117 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  45. Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

    The American Journal of Human Genetics, 2010

    DOI 10.1016/j.ajhg.2010.01.009 PMID 20137777 83 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  46. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

    American Journal of Medical Genetics Part A, 2010

    DOI 10.1002/ajmg.a.33347 PMID 20358597 34 citations (Europe PMC) Source : OpenAlex

  47. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

    The American Journal of Human Genetics, 2010

    DOI 10.1016/j.ajhg.2010.09.002 2 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  48. Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies

    Journal of Craniofacial Surgery, 2010

    DOI 10.1097/scs.0b013e3181ebcd27 PMID 20818260 9 citations (Europe PMC) Source : OpenAlex

  49. Response to Shaheen et al.

    The American Journal of Human Genetics, 2010

    DOI 10.1016/j.ajhg.2010.07.015 1 citation (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  50. A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

    American Journal of Medical Genetics Part A, 2010

    DOI 10.1002/ajmg.a.33325 PMID 20358606 5 citations (Europe PMC) Source : OpenAlex