Wissenschaftliche Arbeiten

Prof. Dr. Yasemin Alanay

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

Zurück zum Profil

  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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex

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

    Pediatrics International, 2013

    DOI 10.1111/ped.12222 PMID 24112451 12 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex

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

    Elsevier eBooks, 2013

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

  16. Three patients resembling Teebi–Shaltout syndrome

    American Journal of Medical Genetics Part A, 2013

    DOI 10.1002/ajmg.a.36082 PMID 23918592 Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

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

    Human Genetics, 2012

    DOI 10.1007/s00439-012-1197-8 PMID 22773132 62 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex

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

    Clinical Dysmorphology, 2012

    DOI 10.1097/mcd.0b013e3283571699 PMID 22827970 1 Zitation (Europe PMC) Quelle: 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

    Quelle: OpenAlex

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

    IRIS, 2011

    Quelle: OpenAlex

  30. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

    Nature Genetics, 2011

    DOI 10.1038/ng.826 PMID 21552264 192 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex

  34. A mutation screen in patients with Kabuki syndrome

    Human Genetics, 2011

    DOI 10.1007/s00439-011-1004-y PMID 21607748 98 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex

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

    Molecular Syndromology, 2011

    DOI 10.1159/000334289 PMID 22511893 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex

  40. Spondyloenchondrodysplasia: a rare cause of short stature

    The Turkish Journal of Pediatrics, 2011

    DOI 10.24953/turkjpediatr.2011.1803 PMID 21980854 1 Zitation (Europe PMC) Quelle: OpenAlex

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

    PubMed, 2011

    PMID 22303801 2 Zitationen (Europe PMC) Quelle: OpenAlex

  42. Front & Back Matter

    Molecular Syndromology, 2011

    DOI 10.1159/000336788 Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: 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 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  48. Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies

    Journal of Craniofacial Surgery, 2010

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

  49. Response to Shaheen et al.

    The American Journal of Human Genetics, 2010

    DOI 10.1016/j.ajhg.2010.07.015 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: 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 Zitationen (Europe PMC) Quelle: OpenAlex