Prof. Dr. AYŞE NURTEN AKARSU

Yayın Ağı

Makaleler 92

1. Defining mitochondrial protein functions through deep multiomic profiling

Rensvold J. W., Shishkova E., Sverchkov Y., Miller I. J., ÇETİNKAYA A., Pyle A., et al.

NATURE , cilt.606, sa.7913, ss.382-388, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

2. HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

O'Donohue M., Da Costa L., Lezzerini M., Unal S., Joret C., Bartels M., et al.

Blood , cilt.139, sa.21, ss.3111-3126, 2022 (SCI-Expanded, Scopus)

3. Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants

YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., Elkanova L., ŞEKER A., Akpinar E., Akarsu N. A., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.109, sa.6, ss.633-644, 2021 (SCI-Expanded, Scopus)

4. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

Hashem H., Bucciol G., ÖZEN S., ÜNAL Ş., Bozkaya I. O., Akarsu N., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.41, sa.7, ss.1633-1647, 2021 (SCI-Expanded, Scopus)

5. One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Bekircan-Kurt C. E., ÇETİNKAYA A., GÖÇMEN R., KOŞUKCU C., Soylemezoglu F., ARSAVA E. M., et al.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES , cilt.30, sa.9, 2021 (SCI-Expanded, Scopus)

6. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Wong H. H., Seet S. H., Maier M., GÜREL A., Traspas R. M., Lee C., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.108, sa.7, ss.1301-1317, 2021 (SCI-Expanded, Scopus)

7. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

Pekgul F., Eroglu-Ertugrul N. G., Bekircan-Kurt C. E., Erdem-Ozdamar S., Cetinkaya A., Tan E., et al.

MOLECULAR GENETICS AND METABOLISM REPORTS , cilt.25, 2020 (SCI-Expanded, Scopus)

8. Laboratory diagnosis of metachromatic leukodystrophy requires more than arylsulfatase A assay

Pekgul F., Bekircan-Kurt C. E., Konuskan B., Erdem-Ozdamar S., Tan E., Akarsu N., et al.

FEBS OPEN BIO , cilt.9, ss.199, 2019 (SCI-Expanded, Scopus)

9. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

Seo A., Steinberg-Shemer O., Unal Ş., Casadei S., Walsh T., Gumruk F., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.115, sa.20, ss.5241-5246, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

10. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R., Konantz M., Paillard C., Miao Z., Pichot A., Leduc M., et al.

The Journal of clinical investigation , cilt.127, ss.4090-4103, 2017 (SCI-Expanded, Scopus)

11. Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Dinçer T., Yorgancıoğlu-Budak G., Ölmez A., Er İ., Dodurga Y., Özdemir Ö., et al.

European journal of human genetics : EJHG , cilt.25, ss.1118-1125, 2017 (SCI-Expanded, Scopus)

12. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S., TAŞKıRAN Z. E., YÜZBAŞıOĞLU A., ÖNAL G., AKARSU A. N., KARADUMAN A., et al.

The Turkish journal of pediatrics , cilt.59, ss.475-482, 2017 (SCI-Expanded, Scopus, TRDizin)

13. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Cetinkaya A., Xiong J. R., Vargel İ., Kösemehmetoğlu K., Canter H. I., Gerdan O. F., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.2, ss.299-317, 2016 (SCI-Expanded, Scopus)

14. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Yee C., Massaad M., Bainter W., Ohsumi T., Föger N., Chan A., et al.

Journal of Allergy and Clinical Immunology , cilt.137, sa.3, ss.879, 2016 (SCI-Expanded, Scopus)

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

Abali S., ARMAN A., Atay Z., Bas S., Cam S., Gormez Z., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.86, ss.167, 2016 (SCI-Expanded, Scopus)

16. Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Abali S., ARMAN A., Atay Z., BEREKET A., Bas S., Haliloglu B., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.86, ss.175-176, 2016 (SCI-Expanded, Scopus)

17. CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Beleggia F., Li Y., Fan J., Elcioglu N. H., Toker E., Wieland T., et al.

HUMAN MOLECULAR GENETICS , cilt.24, sa.8, ss.2267-2273, 2015 (SCI-Expanded, Scopus)

18. Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Malik S., Percin F. E., Bornholdt D., Albrecht B., Percesepe A., Koch M. C., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.95, sa.6, ss.649-659, 2014 (SCI-Expanded, Scopus)

19. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

Semerci C. N., KALAY E., Yildirim C., DİNÇER T., Olmez A., TORAMAN B., et al.

BRITISH JOURNAL OF OPHTHALMOLOGY , cilt.98, sa.6, ss.832-840, 2014 (SCI-Expanded, Scopus)

20. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Shaaban S., Duzcan F., Yildirim C., Chan W. -., Andrews C., Akarsu N. A., et al.

CLINICAL GENETICS , cilt.85, sa.6, ss.562-567, 2014 (SCI-Expanded, Scopus)

21. TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

ALANAY Y., BEKİR E., ÜTİNE G. E., ORÇUN H., ŞİMŞEK KİPER P. Ö., TAŞKIRAN E. Z., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.2, ss.291-304, 2014 (SCI-Expanded, Scopus)

22. Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Keupp K., Li Y., VARGEL İ., Hoischen A., Richardson R., Neveling K., et al.

MOLECULAR GENETICS & GENOMIC MEDICINE , cilt.1, sa.4, ss.223-237, 2013 (SCI-Expanded, ESCI, Scopus)

23. Three Patients Resembling Teebi-Shaltout Syndrome

Aldemir O., Ozen S., Erdem S., Kiraz A., Akarsu N., ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.161, sa.10, ss.2570-2575, 2013 (SCI-Expanded, Scopus)

24. Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study

Semic-Jusufagic A., Bircan R., Celebiler O., Erdim M., Akarsu N., Elcioglu N. H.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.6, ss.617-625, 2012 (SCI-Expanded, Scopus)

25. Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Asharani P. V., Keupp K., Semler O., Wang W., Li Y., Thiele H., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.90, sa.4, ss.661-674, 2012 (SCI-Expanded, Scopus)

26. Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

KALAY E., Sezgin O., Chellappa V., MUTLU M., Morsy H., Kayserili H., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.90, sa.1, ss.76-85, 2012 (SCI-Expanded, Scopus)

27. Disruption of the ptpro gene causes childhood onset nephrotic syndrome

Ozaltin F., Ibsirlioglu T., Taskiran Z. E., Baydar D. E., Kaymaz F., Buyukcelik M., et al.

PEDIATRIC NEPHROLOGY , cilt.26, sa.9, ss.1578, 2011 (SCI-Expanded, Scopus)

28. Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

ÖZALTIN F., Ibsirlioglu T., Taskiran E. Z., Baydar D. E., Kaymaz F., Buyukcelik M., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.89, sa.1, ss.139-147, 2011 (SCI-Expanded, Scopus)

29. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Putoux A., Thomas S., Coene K. L. M., Davis E. E., Alanay Y., Ogur G., et al.

NATURE GENETICS , cilt.43, sa.6, ss.601-607, 2011 (SCI-Expanded, Scopus)

30. Smaller Hippocampus Volume Is Associated with Short Variant of 5-HTTLPR Polymorphism in Medication-Free Major Depressive Disorder Patients

EKER M. Ç., KİTİŞ Ö., OKUR H., Eker O. D., Ozan E., Isikli S., et al.

NEUROPSYCHOBIOLOGY , cilt.63, sa.1, ss.22-28, 2011 (SCI-Expanded, Scopus)

31. **Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy**

Gundesli H., TALİM B., KORKUSUZ P., Balci-Hayta B., Cirak S., Akarsu N. A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.87, sa.6, ss.834-841, 2010 (SCI-Expanded, Scopus)

32. Congenital hypertelorism and osteopenia: A novel autosomal recessive disease

Bonnard C., Merriman B., Lee H., Kayserili H., Akarsu N., Strobl A., et al.

DIFFERENTIATION , cilt.80, 2010 (SCI-Expanded, Scopus)

33. Marie Unna Hereditary Hypotrichosis: A Turkish Family With Loss of Eyebrows and a U2HR Mutation

Mansur A. T., Elcioglu N. H., Redler S., Serdar Z. A., ÇETİNEL Ş., Betz R. C., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.10, ss.2628-2633, 2010 (SCI-Expanded, Scopus)

34. Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies

TUNCBILEK G., Alanay Y., UZUN H., KAYIKCIOGLU A., AKARSU N. A., Benli K.

JOURNAL OF CRANIOFACIAL SURGERY , cilt.21, sa.5, ss.1460-1464, 2010 (SCI-Expanded, Scopus)

35. ASSOCIATION OF POLYNEUROPATHY, MENTAL RETARDATION, SENSORINEURAL HEARING LOSS, 6th NERVE PALSY, CONVULSIONS, AND ORAL DYSKINESIA; A PROPABLE NEW NEUROMETABOLIC DISORDER

DURSUN A., YALNIZOĞLU D., DÜNDAR H., ERDEM S., AKARSU A. N., ÖZGÜL R. K.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

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

Uz E., Alanay Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.5, ss.789-796, 2010 (SCI-Expanded, Scopus)

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

Alanay Y., Avaygan H., Camacho N., ÜTİNE G. E., Boduroglu K., Aktas D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.4, ss.551-559, 2010 (SCI-Expanded, Scopus)

38. The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels

Ozan E., Okur H., Eker C., Eker O. D., GÖNÜL A. S., Akarsu N.

BRAIN RESEARCH BULLETIN , cilt.81, sa.1, ss.61-65, 2010 (SCI-Expanded, Scopus)

39. A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb

Wieczorek D., Pawlik B., Li Y., Akarsu N. A., Caliebe A., May K. J. W., et al.

HUMAN MUTATION , cilt.31, sa.1, ss.81-89, 2010 (SCI-Expanded, Scopus)

40. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Aktas D., Utine E. G., Mrasek K., Weise A., von Eggeling F., Yalaz K., et al.

MOLECULAR CYTOGENETICS , cilt.3, 2010 (SCI-Expanded, Scopus)

41. ALX4 dysfunction disrupts craniofacial and epidermal development

Kayserili H., Uz E., Niessen C., VARGEL İ., Alanay Y., Tuncbilek G., et al.

HUMAN MOLECULAR GENETICS , cilt.18, sa.22, ss.4357-4366, 2009 (SCI-Expanded, Scopus)

42. Disease causing nature of homozygous missense, p.A523D, alteration in the perforin gene.

Oner A., Okur H., Balta G., Unal Ş., Deger I., Akarsu N., et al.

Leukemia research , cilt.33, 2009 (SCI-Expanded, Scopus)

43. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

Semerci C. N., Demirkan F., Ozdemir M., Biskin E., Akin B., Bagci H., et al.

CLINICAL GENETICS , cilt.76, sa.1, ss.85-90, 2009 (SCI-Expanded, Scopus)

44. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum

Berker N., Alanay Y., Elgin U., Volkan-Salanci B., Simsek T., Akarsu N., et al.

ACTA OPHTHALMOLOGICA , cilt.87, sa.1, ss.52-57, 2009 (SCI-Expanded, Scopus)

45. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations

Okur H., Balta G., Akarsu N., Oner A., Patiroglu T., Bay A., et al.

LEUKEMIA RESEARCH , cilt.32, sa.6, ss.972-975, 2008 (SCI-Expanded, Scopus)

46. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

Ozcelik T., Akarsu N., Uz E., Caglayan S., Gulsuner S., Onat O. E., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.105, sa.11, ss.4232-4236, 2008 (SCI-Expanded, Scopus)

47. Environmental effect and genetic influence: a regional cancer predisposition survey in the Zonguldak region of Northwest Turkey

Kadir S., Onen-Hall A. P., Aydin S. N., Yakicier C., Akarsu N., Tuncer M.

ENVIRONMENTAL GEOLOGY , cilt.54, sa.2, ss.391-409, 2008 (SCI-Expanded, Scopus)

48. Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Kaplan Y., VARGEL İ., Kansu T., Akin B., Rohmann E., Kamaci S., et al.

BRITISH JOURNAL OF OPHTHALMOLOGY , cilt.92, sa.1, ss.135-141, 2008 (SCI-Expanded, Scopus)

49. Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

Elcioglu N. H., Akin B., Toker E., Elcioglu M., Kaya A., Tuncali T., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.12, ss.1308-1312, 2007 (SCI-Expanded, Scopus)

50. Molecular and clinical analysis of Turkish patients with HLH

Balta G., Okur H., Akarsu N., Oner A., Sayli T., Gurgey A.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , cilt.29, 2007 (SCI-Expanded, Scopus)

51. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Bayrak-Toydemir P., McDonald J., Alkarsu N., Toydemir R. M., Calderon F., Tuncali T., et al.

American journal of medical genetics. Part A , cilt.140, sa.20, ss.2155-62, 2006 (SCI-Expanded, Scopus)

52. Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

Ozcelik T., Uz E., Akyerli C. B., Bagislar S., Mustafa C. A., Gursoy A., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.14, sa.6, ss.791-797, 2006 (SCI-Expanded, Scopus)

53. Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

Malik S., Percin F., Ahmad W., Percin S., Akarsu N., Koch M., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.4, ss.404-408, 2005 (SCI-Expanded, Scopus)

54. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

Yamada K., Chan W., Andrews C., Bosley T., Sener E., Zwaan J., et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , cilt.45, sa.7, ss.2218-2223, 2004 (SCI-Expanded, Scopus)

55. Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

Ozer S., Ulusahin A., Ulusoy S., Okur H., Coskun T., Tuncali T., et al.

Progress in neuro-psychopharmacology & biological psychiatry , cilt.28, sa.2, ss.255-66, 2004 (SCI-Expanded, Scopus)

56. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Yamada K., Andrews C., Chan W., McKeown C., Magli A., de Berardinis T., et al.

NATURE GENETICS , cilt.35, sa.4, ss.318-321, 2003 (SCI-Expanded, Scopus)

57. Molecular characterization of Turkish patients with pyrimidine 5 ' nucleotidase-I deficiency

Balta G., GUMRUK F., AKARSU N., GURGEY A., ALTAY C.

BLOOD , cilt.102, sa.5, ss.1900-1903, 2003 (SCI-Expanded, Scopus)

58. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

Segurado R., Detera-Wadleigh S., Levinson D., Lewis C., Gill M., Nurnberg J., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.73, sa.1, ss.49-62, 2003 (SCI-Expanded, Scopus)

59. Male cells in female recipients of hematopoietic-cell transplants

Kaygusuz A., Akarsu A. N., Tuncer A.

NEW ENGLAND JOURNAL OF MEDICINE , cilt.347, sa.3, ss.219, 2002 (SCI-Expanded, Scopus)

60. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Lettice L., Horikoshi T., Heaney S., van Baren M., van der Linde H., Breedveld G., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.99, sa.11, ss.7548-7553, 2002 (SCI-Expanded, Scopus)

61. Hereditary intraosseous vascular malformation of the craniofacial region: An apparently novel disorder

Vargel I., Cil B., Er N., Ruacan S., Akarsu A. N., Erk Y.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.109, sa.1, ss.22-35, 2002 (SCI-Expanded, Scopus)

62. Van der Woude syndrome associated with ankyloblepharon filiforme adnatum is not linked to chromosome 1q32-q41 region.

Okur H., Vargel I., Ozgur F., Erk Y., Akarsu A. N.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.69, sa.4, ss.289, 2001 (SCI-Expanded, Scopus)

63. DACH: Genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue

Ayres J., Shum L., Akarsu A. N., Dashner R., Takahashi K., Ikura T., et al.

GENOMICS , cilt.77, ss.18-26, 2001 (SCI-Expanded, Scopus)

64. X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Galjaard R., Kostakoglu N., Hoogeboom J., Breedveld G., van der Linde H., Hovius S., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.9, sa.9, ss.653-658, 2001 (SCI-Expanded, Scopus)

65. An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

Radhakrishna U., Senol S., Herken H., Gucuyener K., Gehrig C., Blouin J., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.9, sa.1, ss.39-44, 2001 (SCI-Expanded, Scopus)

66. BIGH(3) gene analysis in the differential diagnosis of corneal dystrophies

Kocak-Altintas A., Kocak-Midillioglu I., Akarsu A. N., Duman S.

CORNEA , cilt.20, sa.1, ss.64-68, 2001 (SCI-Expanded, Scopus)

67. Autosomal recessive severe intraosseous hemangioma in the skull. A new syndrome?

Akarsu A. N., Vargel I., Erk Y.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.67, sa.4, ss.57, 2000 (SCI-Expanded, Scopus)

68. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

van Bokhoven H., Celli J., Kayserili H., van Beusekom E., Balci S., Brussel W., et al.

NATURE GENETICS , cilt.25, sa.4, ss.423-426, 2000 (SCI-Expanded, Scopus)

69. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

Sener E., Lee B., Turgut B., Akarsu A. N., Engle E.

ARCHIVES OF OPHTHALMOLOGY , cilt.118, sa.8, ss.1090-1097, 2000 (SCI-Expanded, Scopus)

70. Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36

Balci S., Demirtas M., Civelek B., Piskin M., Sensoz O., Akarsu A. N.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.87, sa.5, ss.399-406, 1999 (SCI-Expanded, Scopus)

71. Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5).

Akarsu A. N., Rezaie T., Demirtas M., Farhud D., Sarfarazi M.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.65, sa.4, 1999 (SCI-Expanded, Scopus)

72. Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

Zguricas J., Heus H., Morales-Peralta E., Breedveld G., Kuyt B., Mumcu E., et al.

JOURNAL OF MEDICAL GENETICS , cilt.36, sa.1, ss.32-40, 1999 (SCI-Expanded, Scopus)

73. Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Percin E., Percin S., Egilmez H., Sezgin I., Ozbas F., Akarsu A. N.

JOURNAL OF MEDICAL GENETICS , cilt.35, sa.10, ss.868-874, 1998 (SCI-Expanded, Scopus)

74. Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity

Topaloglu H., Pinarli G., Erdem H., Gucuyener K., Karaduman A., Topcu M., et al.

NEUROPEDIATRICS , cilt.29, sa.4, ss.189-194, 1998 (SCI-Expanded, Scopus)

75. A large family with type IV radial polydactyly

Seyhan A., Akarsu N., Keskin F.

JOURNAL OF HAND SURGERY-BRITISH AND EUROPEAN VOLUME , sa.4, ss.530-533, 1998 (SCI-Expanded, Scopus)

76. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1

Stoilov I., Akarsu A. N., Alozie I., Child A., Barsoum-Homsy M., Turacli M., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.62, sa.3, ss.573-584, 1998 (SCI-Expanded, Scopus)

77. Mapping of the second locus of postaxial polydactyly type A (PAP-A2) to chromosome 13q21-q32.

Akarsu A. N., Ozbas F., Kostakoglu N.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.61, sa.4, 1997 (SCI-Expanded, Scopus)

78. Identification of cytochrome P4501B1 as the gene mutated in primary congenital glaucoma families linked to the GLC3A locus on 2p21.

Stoilov I., Akarsu A. N., Sarfarazi M.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.61, sa.4, 1997 (SCI-Expanded, Scopus)

79. Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population

Akarsu A. N., Saatci U., Ozen S., Bakkaloglu A., Besbas N., Sarfarazi M.

JOURNAL OF MEDICAL GENETICS , cilt.34, sa.7, ss.573-578, 1997 (SCI-Expanded, Scopus)

80. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

Stoilov I., Akarsu A. N., Sarfarazi M.

HUMAN MOLECULAR GENETICS , cilt.6, sa.4, ss.641-647, 1997 (SCI-Expanded, Scopus)

81. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

Akarsu A. N., Turacli M., Aktan S., BarsoumHomsy M., Chevrette L., Sayli B., et al.

HUMAN MOLECULAR GENETICS , cilt.5, sa.8, ss.1199-1203, 1996 (SCI-Expanded, Scopus)

82. Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families

Akarsu A. N., Stoilov I., Yilmaz E., Sayli B., Sarfarazi M.

HUMAN MOLECULAR GENETICS , cilt.5, sa.7, ss.945-952, 1996 (SCI-Expanded, Scopus)

83. Exclusion of primary congenital glaucoma (Buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11

Akarsu A. N., Turacli M., Aktan S., Hossain A., BarsoumHomsy M., Chevrette L., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.61, sa.3, ss.290-292, 1996 (SCI-Expanded, Scopus)

84. ASSIGNMENT OF A LOCUS (GLC3A) FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO 2P21 AND EVIDENCE FOR GENETIC-HETEROGENEITY

SARFARAZI M., AKARSU A. N., HOSSAIN A., TURACLI M., AKTAN S., BARSOUMHOMSY M., et al.

GENOMICS , cilt.30, sa.2, ss.171-177, 1995 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

85. LOCALIZATION OF THE SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) LOCUS TO 2Q31 REGION AND IDENTIFICATION OF TIGHT LINKAGE TO HOXD8 INTRAGENIC MARKER

SARFARAZI M., AKARSU A. N., SAYLI B.

HUMAN MOLECULAR GENETICS , cilt.4, sa.8, ss.1453-1458, 1995 (SCI-Expanded, Scopus)

86. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

Sayli B. S., Akarsu A. N., Altan S.

American journal of medical genetics , cilt.58, ss.18-20, 1995 (SCI-Expanded, Scopus)

87. A LARGE TURKISH KINDRED WITH SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) .1. FIELD INVESTIGATION, CLINICAL AND PEDIGREE DATA

SAYLI B., AKARSU A. N., SAYLI U., AKHAN O., CEYLANER S., SARFARAZI M.

JOURNAL OF MEDICAL GENETICS , cilt.32, sa.6, ss.421-434, 1995 (SCI-Expanded, Scopus)

88. A LARGE TURKISH KINDRED WITH SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) .2. HOMOZYGOUS PHENOTYPE

AKARSU A. N., AKHAN O., SAYLI B., SAYLI U., BASKAYA G., SARFARAZI M.

JOURNAL OF MEDICAL GENETICS , cilt.32, sa.6, ss.435-441, 1995 (SCI-Expanded, Scopus)

89. GENETIC FEATURES OF RETINITIS-PIGMENTOSA IN TURKEY

ATMACA L., SAYLI B., AKARSU N., GUNDUZ K.

DOCUMENTA OPHTHALMOLOGICA , cilt.89, sa.4, ss.387-392, 1995 (SCI-Expanded, Scopus)

90. THERAPEUTIC AND GENETIC-ASPECTS OF CONGENITAL GLAUCOMAS

TURACLI M., AKTAN S., SAYLI B., AKARSU N.

INTERNATIONAL OPHTHALMOLOGY , cilt.16, ss.359-362, 1992 (SCI-Expanded, Scopus)

91. Therapeutical and genetical aspects of congenital glaucomas.

Turaçli M. E., Aktan S. G., Sayli B. S., Akarsu N.

International ophthalmology , cilt.16, ss.359-62, 1992 (SCI-Expanded, Scopus)

92. NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME

AKARSU A. N., SAYLI B.

CLINICAL GENETICS , cilt.40, sa.5, ss.342-344, 1991 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 22

1. In vitro Translasyon ile Ribozom İşlev Tayini

KILIÇ H. B., ÇETİNKAYA A., AKARSU A. N., KOCAEFE Y. Ç.

26. Ulusal Tıbbi Biyoloji ve Genetik Kongresi 2021, Türkiye, 28 - 31 Ekim 2021, cilt.1, ss.277-278, (Tam Metin Bildiri)

2. Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters

GÜREL A., ÜNAL CANGÜL Ş., Yaralı N., ŞİMŞEK KİPER P. Ö., CEYLANER S., Bilir O. A., et al.

European Society of Human Genetics Virtual Conference, June 6-9, 2020., 6 - 09 Haziran 2020, cilt.28, ss.302, (Tam Metin Bildiri)

3. Plant-based milk alternative preference for children with cow milk protein allergy: Affecting factors and effect on nutritional status

Parlak Z., ŞAHİNER Ü. M., KAHVECİ M., AKARSU A. N., Buyuktiryaki B., ŞEKEREL B. E., et al.

European-Academy-of-Allergology-and-Clinical-Immunology Digital Congress (EAACI), London, Kanada, 6 - 08 Haziran 2020, cilt.75, ss.539-540, (Özet Bildiri)

4. Kalıtsal nonsendromik yarık dudak/damak hastalığında genetik etiyolojinin araştırılması

TORAMAN B., LİVAOĞLU M., DİNÇER T., BUDAK G., NALKIRAN İ., ÜNSAL S., et al.

XV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 26 - 29 Ekim 2017, (Özet Bildiri)

5. Combination of UBR1 and UBR5 mutations in a severe form of Johanson-Blizzard Syndrome with total agenesis of lateral process and situs inversus

ÇETİNKAYA A., GÜLSEN A. T., ERGÜNER B., TÜTÜN A., MUTLU M. B., KARADAĞ N., et al.

American Society of Human Genetics67. Annual Meeting, Orlando, Florşda, Amerika Birleşik Devletleri, 17 - 21 Ekim 2017, (Özet Bildiri)

6. Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

KOŞUKCU C., ASLI K., ALANAY Y., KAVAK P., BERKER N., TAŞKIRAN Z. E., et al.

10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017, (Tam Metin Bildiri)

7. MULTICENTER RESULTS OF SCHWACHMAN-DIAMOND SYNDROME PATIENTS

ÜNAL S., Kalkan N., CELKAN T. T., Ozdemir G. N., Ozbek N., Yarali N., et al.

22nd Congress of the European-Hematology-Association, Madrid, İspanya, 22 - 25 Haziran 2017, cilt.102, ss.704-705, (Özet Bildiri)

8. The clinical experiences with intraosseous vascular malformations related with ELMO2 mutations

VARGEL İ., ÇALIŞ M., CANTER H. İ., AKARSU A. N.

EURAPS 28.ANNUAL MEETING, 25 - 27 Mayıs 2017, (Özet Bildiri)

9. The clinical experiences with intraosseous vascular malformations related with ELMO2 mutations

VARGEL İ., ÇALIŞ M., CANTER H. İ., AKARSU A. N.

EURAPS 28. ANNUAL MEETING, İtalya, 25 - 27 Mayıs 2017, (Özet Bildiri)

10. A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Mehmet D., ÜNAL S., GÜMRÜK F., Akarsu N. A.

58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), California, Amerika Birleşik Devletleri, 3 - 06 Aralık 2016, cilt.128, (Özet Bildiri)

11. A novel splicing site mutation of PLK4 that is required for centriole biogenesis and genomic stability causes Seckel syndrome

DİNÇER T., BUDAK G., SEMERCİ C. N., ÖLMEZ A., DODURGA Y., ÖZMERT M., et al.

European Society of Human Genetics Conference, 21 - 24 Mayıs 2016

12. Loss of function mutations in ELMO2 impeding RSC1 signalling and cell migration cause intraosseous vascular malformation

ÇETİNKAYA A., Xiong J., VARGEL İ., KÖSEMEHMETOĞLU K., CANTER H. İ., GERDAN Ö., et al.

European Society of Human Genetics Conference, 21 - 24 Mayıs 2016

13. A Hypomorphic Coronin-1A Mutation that Abolishes Oligomerization and Cytoskeletal Association Is Associated with Impaired CD4+T Cell Survival

Yee C., Sanal O., AKARSU A. N., Ayetkin C., ÇAĞDAŞ AYVAZ D. N., Geha R. S., et al.

16th Biennial Meeting of the European-Society-for-Immunodeficiencies (ESID), Prague, Çek Cumhuriyeti, 29 Ekim - 01 Kasım 2014, cilt.34, (Özet Bildiri)

14. Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Yee C. S. K., Sanal O., Chou J. S., Geha R. S., Ayvaz D. N., Aytekin C., et al.

Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology (AAAAI), California, Amerika Birleşik Devletleri, 28 Şubat - 04 Mart 2014, cilt.133, (Özet Bildiri)

15. Congenital hypertelorism & osteopenia, a novel autosomal recessive disease of development

Bonnard C., Shboul M., Akarsu N., Kayserili H., Merriman B., Lee H., et al.

16th Annual Conference of the International-Society-of-Development-Biologists, Edinburgh, Saint Helena, 6 - 10 Eylül 2009, cilt.126, (Özet Bildiri)

16. Linkage analysis of a four generation herediter spherocytosis family with spectrin deficiency

Tasdemir P., Akarsu N., Demirel S.

7th European Cytogenetics Conference, Stockholm, İsveç, 4 - 07 Temmuz 2009, cilt.17, ss.79, (Özet Bildiri)

17. The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients

Ozan E., Gonul A. S., Okur H., Akarsu N., EKER M. Ç., EKER M. Ç., et al.

21st Congress of the European-College-of-Neuropsychopharmacology, Barcelona, İspanya, 30 Ağustos - 03 Eylül 2008, cilt.18, (Özet Bildiri)

18. Hunting the susceptibility gene for psychosis: A study of a family overloaded with different forms of psychotic disorders

Ozer S., Ulusoy S., Okur H., Gogus A., Akarsu A. N., Ulusahin A.

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Çek Cumhuriyeti, 20 - 24 Eylül 2003, cilt.13, (Özet Bildiri)

19. A family overloaded with psychosis and rickets-alopecia syndrome challenges vitamin-D hypothesis for schizophrenia

Ozer S., Ulusahin A., Ulusoy S., Okur H., Coskun T., Gogus A., et al.

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Çek Cumhuriyeti, 20 - 24 Eylül 2003, cilt.13, (Özet Bildiri)

20. Molecular characterization of pyrimidine 5 prime nucleotidase (P5N-1) deficiency: Identification of 3 novel mutations.

Balta G., Gurgey A., Gumruk F., Akarsu N., Altay C.

44th Annual Meeting of the American-Society-of-Hematology, PHILADELPHIA, PENNSYLVANIA, 6 - 10 Aralık 2002, cilt.100, (Özet Bildiri)

21. Phenotype description of Van der Woude Syndrome (VWS) unlinked to chromosome 1 containing IRF6

Okur H., Vargel I., Kondo S., Schutte B., Ozgur F., Balci S., et al.

52nd Annual Meeting of the American-Society-of-Human-Genetics, BALTIMORE, MARYLAND, 15 - 19 Ekim 2002, cilt.71, ss.285, (Özet Bildiri)

22. Juvenile Hyalin Fibromatosis in three sibs from a consanguineous family: Clinical, histopathological and imminohistochemical findings

Balci S., Kulacoglu S., Senoz O., Vargel I., Erk Y., Onder S., et al.

European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, Fransa, 25 - 28 Mayıs 2002, cilt.10, ss.121-122, (Özet Bildiri)

Kitaplar 3

Metrikler

Yayın

119

Yayın (WoS)

105

Yayın (Scopus)

Atıf (WoS)

4317

H-İndeks (WoS)

Atıf (Scopus)

4872

H-İndeks (Scopus)

Atıf (Scholar)

133

H-İndeks (Scholar)

Atıf (Diğer Toplam)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler