Prof.Dr. HURİYE NURSEL ELÇİOĞLU
Tıp Fakültesi / Dahili Tıp Bilimleri Bölümü

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Marmara Üniversitesi - Tıp Fakültesi / Dahili Tıp Bilimleri Bölümü / 0216421222
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YAYINLAR & ESERLER
MAKALELER
ULUSLARARASI
SCI, SSCI, AHCI İNDEKSLERİNE GİREN DERGİLERDE YAYINLANAN MAKALELER
1. BAYRAM YAVUZ,white jj,ELÇİOĞLU HURİYE NURSEL,cho mt,zadeh n,gedikbaşı a,palandüz şükrü,ÖZTÜRK ŞÜKRÜ,ÇEFLE KIVANÇ,KASAPÇOPUR ÖZGÜR,coban akdemir z,pehlivan davud,begtrup a,carvalho cmb,paine IS,MENTEŞ ALİ RECAİ,BEKTAŞ KAYHAN KIVANÇ,KARACA E,JHANGIANI SN,MUZNY DM,GIBBS RA,LUBSKI JR. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. The American Journal of Human Genetics. Cilt 101. sf 149-156, 2017. (Yayına Ulaşmak İçin Tıklayınız)
2. Beales Phil,ELÇİOĞLU HURİYE NURSEL,Wolf AS,Parker D,Flinter FA. New criteria for improved diagnosis of Bardet Biedl syndrome results of a population survey. J Med Genet.. 2001.
3. BAYRAM YAVUZ,KARACA EMİN,EO YILMAZ,TAYFUN GA,AYDIN H,BOZDOĞAN ST,GEZDİRİCİ A,ELÇİOĞLU HURİYE NURSEL. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. Journal of Clinical Investigation. Cilt 126. sf 762-778, 2016. (Yayına Ulaşmak İçin Tıklayınız)
4. ELÇİOĞLU HURİYE NURSEL,YİĞİT GÖKHAN,Wollnik Bernd,Harley ME,MR HİGGS. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genetics. Cilt 48. sf 36-43, 2016. (Yayına Ulaşmak İçin Tıklayınız)
5. Di Gioia Silvio,TÜYSÜZ BEYHAN,ELÇİOĞLU HURİYE NURSEL,Engle Elizabath. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. AMERICAN JOURNAL OF HUMAN GENETICS. Cilt 103. sf 115-124, 2018. (Yayına Ulaşmak İçin Tıklayınız)
6. Martin Carol-Anne,Logan Clare V,Thakur RS,ELÇİOĞLU HURİYE NURSEL,Wollnik Bernd. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. AMERICAN JOURNAL OF HUMAN GENETICS. Cilt 103. sf 221-231, 2018. (Yayına Ulaşmak İçin Tıklayınız)
7. Priolo Manuela,Schanze Denny,Alkuraya Fowzan S,ELÇİOĞLU HURİYE NURSEL,Hennekam Raoul C. Further delineation of Malan syndrome. HUMAN MUTATION. Cilt 39. sf 1226-1237, 2018. (Yayına Ulaşmak İçin Tıklayınız)
8. Beales PL,ELÇİOĞLU HURİYE NURSEL,Wolf AS,Parker D,Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.. JOURNAL OF MEDICAL GENETICS. Cilt 36. sf 437-446, 1999.
9. Lehalle Daphné,Altunoglu Umut,ELÇİOĞLU HURİYE NURSEL,KAYSERİLİ KARABEY HÜLYA. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. American Journal of Medical Genetics Part A. 2018. (Yayına Ulaşmak İçin Tıklayınız)
10. Colombo Elisa,Locatelli Andrea,ELÇİOĞLU HURİYE NURSEL,Larizza Lidia. Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. International Journal of Molecular Sciences. Cilt 19. sf 1103-, 2018. (Yayına Ulaşmak İçin Tıklayınız)
11. McSherry Megan,ELÇİOĞLU HURİYE NURSEL,Celik Pelin,Tekin Mustafa. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. PLOS ONE. Cilt 13. sf 208324-, 2018. (Yayına Ulaşmak İçin Tıklayınız)
12. Colombo Elisa,ELÇİOĞLU HURİYE NURSEL,Gervasini Cristina,Larizza Lidia. Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants. Journal of Clinical Immunology. Cilt 38. sf 494-502, 2018. (Yayına Ulaşmak İçin Tıklayınız)
13. ELÇİOĞLU HURİYE NURSEL,TOPKAR MERT O,Karalar Ozge K. Dysosteosclerosis is also caused by TNFRSF11A mutation. Journal of Human Genetics. Cilt 63. sf 769-774, 2018. (Yayına Ulaşmak İçin Tıklayınız)
14. Michaud Vincent,Lasseaux Eulalie,Plaisant Claudio,Verloes Alain,Perdomo-Trujillo Yaumara,Hamel Christian,ELÇİOĞLU HURİYE NURSEL,Arveiler Benoit. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. Pigment Cell Melanoma Research. Cilt 30. sf 563-570, 2017. (Yayına Ulaşmak İçin Tıklayınız)
15. Guo Long,ELÇİOĞLU HURİYE NURSEL,ARAS SEDA,Ikegawa Shiro,Nishimura Gen. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. Journal of Human Genetics. Cilt 62. sf 447-451, 2017. (Yayına Ulaşmak İçin Tıklayınız)
16. Bramswig Nuria C,Lüdecke Hermann-Josef,Hamdan Fadi F,Altmüller Janine,Beleggia Filippo,ELÇİOĞLU HURİYE NURSEL,Wollnik Bernd,Wieczorek Dagmar. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human Genetics. Cilt 136. sf 821-834, 2017. (Yayına Ulaşmak İçin Tıklayınız)
17. Gou long,ELÇİOĞLU HURİYE NURSEL,NOYAN BİLGE,ALBAYRAK HATİCE M. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. Journal of Human Genetics. Cilt 62. sf 797-801, 2017. (Yayına Ulaşmak İçin Tıklayınız)
18. TÜYSÜZ BEYHAN,ALANAY YASEMİN,ELÇİOĞLU HURİYE NURSEL,MIHÇI ERCAN,NUR BANU,GEZDİRİCİ ALPER. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Clinical Genetics. Cilt 91. sf 868-880, 2017. (Yayına Ulaşmak İçin Tıklayınız)
19. Guo Long,ELÇİOĞLU HURİYE NURSEL,İŞGÜVEN ŞÜKRİYE PINAR,Ikegawa Shiro,Nishimura Gen. Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum. Human Genome Variation. Cilt 4. sf 17040-, 2017. (Yayına Ulaşmak İçin Tıklayınız)
20. Beales Phil L,ELÇİOĞLU HURİYE NURSEL,Woolf AS,Parker D,Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. Journal Medical Genetics. Cilt 36. sf 437-446, 1999.
21. ELÇİOĞLU HURİYE NURSEL,KAYSERİLİ KARABEY HÜLYA,ŞİMŞEK KİPER PELİN ÖZLEM,ALANAY YASEMİN,ALTUNOĞLU UMUT,BODUROĞLU OSMAN KORAY,YİĞİT GÖKHAN,Wollnik Bernd. title Mutation Update for Kabuki Syndrome Genes iKMT2D/i and iKDM6A/i and Further Delineation of X-Linked Kabuki Syndrome Subtype 2/title. Human Mutation. Cilt 37. sf 847-864, 2016. (Yayına Ulaşmak İçin Tıklayınız)
22. Klingbeil KD,Greenland CM,ARSLAN SELÇUK,Arianne Paneque,GÜRKAN HAKAN,ULUSAL SELMA,Reza Maroofian,Gonzalez Andrea,Armendariz Stefany,Paredes Rosario,ELÇİOĞLU HURİYE NURSEL,Menendez Ibis,Behnam Mahdiyeh,Foster joseph,Guo Shengru,Escarfuller Sebastian,Başak Cengiz Filiz,Duman Duygu,Bademci Güney,Tekin Mustafa. Novel EYA1 variants causing Branchio-oto-renal syndrome. International Journal of Pediatric Otorhinolaryngology. Cilt 98. sf 59-63, 2017. (Yayına Ulaşmak İçin Tıklayınız)
23. ŞAHİN SUZAN,OĞRAG HALİL,TÜRKMEN MÜNEVVER,ASLAN E ATAŞ,ELÇİOĞLU HURİYE NURSEL. A thanatophoric Dysplasia type1 case with A FGFR3 P R 248C mutation and survival beyond the neonatal period. Genetic Counselling. 2016.
24. Salman Andaç,GENÇOOSMANOĞLU Dilek,YÜCELTEN AYŞE DENİZ,ELÇİOĞLU HURİYE NURSEL,DEMİRKESEN C. Successful treatment of pityriasis lichenoides chronica with narrow band ultraviolet B therapy in a patient with Keratitis Ichthyosis Deafness syndrome a case report. Dermatoloji Online J. Cilt 22. 2016. (Yayına Ulaşmak İçin Tıklayınız)
25. Ozantürk Ayşegül,Marshall Jan D,Collin Gayle B,DÜZENLİ SELMA,Candan Şükrü,Tos Tülay,ESEN İHSAN,TAŞKESEN MUSTAFA,Çayır Atilla,ÖZTÜRK ŞÜKRÜ,ÜSTÜN İHSAN,Ataman Esra,KARACA EMİN,Özdemir Taha Reşid,EROL İLKNUR,Eroğlu Fehime Kara,Torun Deniz,PARILTAY ERHAN,Yılmaz-Güleç Elif,Karaca Ender,Marshall Robert P,Atabek M Emre,ELÇİOĞLU HURİYE NURSEL,SATMAN İLHAN,Möller Claes,Muller Jean,Naggert Jürgen K,ÖZGÜL RIZA KÖKSAL. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. Journal of Human Genetics. Cilt 60. sf 1-9, 2015. (Yayına Ulaşmak İçin Tıklayınız)
26. Spena S,Milani D,Rusconi D,Negri G,Colapietro P,ELÇİOĞLU HURİYE NURSEL,Bedeschi F,Spaccini L,Ficcadenti A. Insights into genotype phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein Taybi syndrome patientsSpena S Milani D Rusconi D Negri G Colapietro P Elcioglu N Bedeschi F. Clinical Genetics. Cilt 88. sf 431-440, 2015.
27. Rosin N,ELÇİOĞLU HURİYE NURSEL,Beleggia F,Isgüven P,Altmüller J,Thiele H,Steindl K,Joset P,Rauch A,Nürnberg P,Wollnik B,Yigit G. Mutations in XRCC4 cause primary microcephaly short stature and increased genomic instability. Human Molecular Genetics. Cilt 88. sf 499-513, 2015. (Yayına Ulaşmak İçin Tıklayınız)
28. Beleggia F,Li Y,Fan J,ELÇİOĞLU HURİYE NURSEL,TOKER AYŞE EBRU,Wieland T,Maumenee IH,AKARSU AYŞE NURTEN,Meitinger T,Strom T M,Lang R,Wollnik B. CRIM1 haploinsufficiency causes defects in eye development in human and mouse. Human Molecular Genetics. Cilt 24. sf 2267-2273, 2015. (Yayına Ulaşmak İçin Tıklayınız)
29. Karaca Ender,Harel Tamar,PEHLİVAN DAVUT,Jhangiani Shalini N,Gambin Tomasz,Coban Akdemir Zeynep,Gonzaga-Jauregui Claudia,Erdin Serkan,BAYRAM YAVUZ,Campbell Ian M,Hunter Jill V,Atik Mehmed M,Van Esch Hilde,Yuan Bo,Wiszniewski Wojciech,Isikay Sedat,Yesil Gozde,Yuregir Ozge O,Tug Bozdogan Sevcan,Aslan Huseyin,Aydin Hatip,Tos Tulay,Aksoy Ayse,De Vivo Darryl,Jain Preti,Geckinli B Bilge,Sezer Ozlem,Gul Davut,Durmaz Burak,Cogulu Ozgur,Ozkinay Ferda,Topcu Vehap,Candan Sukru,Cebi Alper Han,Ikbal Mevlit,Yilmaz Gulec Elif,Gezdirici Alper,Koparir Erkan,Ekici Fatma,Coskun Salih,Cicek Salih,Karaer Kadri,Koparir Asuman,Duz Mehmet Bugrahan,Kirat Emre,Fenercioglu Elif,ULUCAN HAKAN,SEVEN MEHMET,Tulay Guran,ELÇİOĞLU HURİYE NURSEL,Yildirim Mahmut Selman,Aktas Dilek,ALİKAŞİFOĞLU MEHMET,Ture Mehmet. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. Cilt 88. sf 499-513, 2015. (Yayına Ulaşmak İçin Tıklayınız)
30. PEHLİVAN DAVUT,Coban Akdemir Zeynep,Karaca Ender,BAYRAM YAVUZ,Jhangiani Shalini,Yildiz Edibe Pembegul,Muzny Donna,Uluc Kayihan,Gibbs Richard A,ELÇİOĞLU HURİYE NURSEL,Lupski James R,Harel Tamar. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Human Genetics. Cilt 134. sf 671-673, 2015. (Yayına Ulaşmak İçin Tıklayınız)
31. ATİK TAHİR,Koparir A,Bademci G,Foster J,Altunoglu U,Mutlu Gül Yesiltepe,Bowdin Sarah,ELÇİOĞLU HURİYE NURSEL,Tayfun Gulsen A,Atik Sevinc Sahin,Ozen Mustafa,Ozkinay Ferda,ALANAY YASEMİN,KAYSERİLİ KARABEY HÜLYA,Thiel Steffen,Tekin Mustafa. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet Journal of Rare Diseases. Cilt 10. 2015. (Yayına Ulaşmak İçin Tıklayınız)
32. Porter LF,Galli GG,Williamson S,Selley J,Knight D,ELÇİOĞLU HURİYE NURSEL,Aydın A,Venselaar H,Lund AH,Bonshek R,Black GC,Manson FD. A role for repressive complexes and H3K9 di methylation in PRDM5 associated brittle cornea syndrome. Human Molecular Genetics. Cilt 24. sf 6565-6579, 2015. (Yayına Ulaşmak İçin Tıklayınız)
33. Bögershausen Nina,Tsai I-Chun,Pohl Esther,ŞİMŞEK KİPER PELİN ÖZLEM,Beleggia Filippo,Percin E Ferda,Keupp Katharina,Matchan Angela,Milz Esther,ALANAY YASEMİN,KAYSERİLİ KARABEY HÜLYA,Banka Siddharth,Kranz Andrea,Zenker Martin,Wieczorek Dagmar,ELÇİOĞLU HURİYE NURSEL,Prontera Paolo,Lyonnet Stanislas,Meitinger Thomas,Stewart A Francis,Donnai Dian,Strom Tim M,BODUROĞLU OSMAN KORAY,Yigit Gökhan,Katsanis Nicholas,Wollnik Bernd. RAP1 mediated MEK ERK pathway defects in Kabuki syndrome. Journal of Clinical Investigation. Cilt 125. sf 3585-3599, 2015. (Yayına Ulaşmak İçin Tıklayınız)
34. Kelley Brian P,Malfait Fransiska,Bonafe Luisa,Baldridge Dustin,Homan Erica,Symoens Sofie,Willaert Andy,ELÇİOĞLU HURİYE NURSEL,Van Maldergem Lionel,Verellen-Dumoulin Christine,Gillerot Yves,Napierala Dobrawa,Krakow Deborah,Beighton Peter,Superti-Furga Andrea,De Paepe Anne,Lee Brendan. Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome. Journal of Bone and Mineral Research. Cilt 26. sf 666-672, 2011. (Yayına Ulaşmak İçin Tıklayınız)
35. Stoetzel C,Laurier V,Davis EE,Muller J,Rix S,Badano JL,Leitch CC,Salem N,Chouery E,Corbani S,Jalk N,Vicaire S,Sarda P,Hamel C,Lacombe D,Holder M,Odent S,Holder S,Brooks AS,ELÇİOĞLU HURİYE NURSEL,Beales PL,Mandel JL,Katsanis N,Dollfus H. BBS10 encodes a vertebrate specific chaperonin like protein and is a major BBS locus. NATURE GENETICS. Cilt 38. sf 521-524, 2006.
36. Beales PL,Bland E,Tobin JL,Bacchelli C,Tuysuz B,Hill J,Rix S,Pearson CG,Kai M,Hartley J,Johnson C,Irving M,ELÇİOĞLU HURİYE NURSEL,Winey M,Tada M,Scambler PJ. IFT80 which encodes a conserved intraflagellar transport protein is mutated in Jeune asphyxiating thoracic dystrophy Bland E Tobin JL Bacchelli C Tuysuz B Hill J Rix S Pearson CG Kai M Hartley J Johnson C Irving M Elcioglu N Winey M Tada M Scambler PJ. NATURE GENETICS. Cilt 39. sf 727-729, 2007.
37. Khedhiri S,Chkioua L,ELÇİOĞLU HURİYE NURSEL,Laradi S,Miled A. Mutations and polymorphisms in N acetylgalactosamine 6 sulfate sulfatase gene in Turkish Morquio A patients. Pathologie Biologie. Cilt 62. sf 38-40, 2014. (Yayına Ulaşmak İçin Tıklayınız)
38. ELÇİOĞLU HURİYE NURSEL,Berry AC. Fraser syndrome diagnosed in a 50 year old museumspecimen. American Journal of Medical Genetics. Cilt 94. sf 262-264, 2000.
39. Keupp Katharina,Li Yun,Vargel Ibrahim,Hoischen Alexander,Richardson Rebecca,Neveling Kornelia,ALANAY YASEMİN,UZ ELİF,ELÇİOĞLU HURİYE NURSEL,Rachwalski Martin,Kamaci Soner,TUNÇBİLEK MÜNİP GÖKHAN,Akin Burcu,Grötzinger Joachim,Konas Ersoy,MAVİLİ MEHMET EMİN,Müller-Newen Gerhard,Collmann Hartmut,Roscioli Tony,Buckley Michael F,Yigit Gökhan,Veltman Joris,Hammerschmidt Matthias,AKARSU AYŞE NURTEN,Wollnik Bernd. title Mutations in the interleukin receptor i IL11RA i cause autosomal recessive Crouzon like craniosynostosis title. Molecular Genetics & Genomic Medicine. Cilt 1. sf 223-237, 2013. (Yayına Ulaşmak İçin Tıklayınız)
40. Twigg Stephen RF,Lloyd Deborah,Jenkins Dagan,ELÇİOĞLU HURİYE NURSEL,Cooper Christopher DO,Al-Sannaa Nouriya,ANNAGÜR ALİ,Gillessen-Kaesbach Gabriele,Hüning Irina,Goodship Judith A,Keavney Bernard D,Beales Philip L,McGowan Simon J,Wilkie Andrew OM. Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization. The American Journal of Human Genetics. Cilt 91. sf 897-905, 2012. (Yayına Ulaşmak İçin Tıklayınız)
41. Li Yun,Pawlik Barbara,ELÇİOĞLU HURİYE NURSEL,Aglan Mona,KAYSERİLİ KARABEY HÜLYA,Yigit Gökhan,Percin Ferda,Goodman Frances,Nürnberg Gudrun,Cenani Asim,Urquhart Jill,Chung Boi-Dinh,Ismail Samira,Amr Khalda,Aslanger Ayca D,Becker Christian,Scambler Pete,Hamamy Hanan,Clayton-Smith Jill,Hennekam Raoul,Nürnberg Peter,Temtamy Samia A,Wollnik Bernd. LRP4 Mutations Alter Wnt Catenin Signaling and Cause Limb and Kidney Malformations in Cenani Lenz Syndrome. The American Journal of Human Genetics. Cilt 86. sf 696-706, 2010. (Yayına Ulaşmak İçin Tıklayınız)
42. Giunta Cecilia,ELÇİOĞLU HURİYE NURSEL,Albrecht Beate,Chambaz Céline,Yeowell Heather,Janecke Andreas R,Weis MaryAnn,Kraenzlin Marius,Steinmann Beat. Spondylocheiro Dysplastic Form of the Ehlers Danlos Syndrome An Autosomal Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13. The American Journal of Human Genetics. Cilt 82. sf 1290-1305, 2008. (Yayına Ulaşmak İçin Tıklayınız)
43. Beales PL,ELÇİOĞLU HURİYE NURSEL,Wolf AS,Flinter FA. New criteria forimproved diagnosis of Bardet Biedl syndrome results of a population survey. JOURNAL OF MEDICAL GENETICS. Cilt 36. sf 437-446, 1999.
44. ELÇİOĞLU HURİYE NURSEL,Hall CM. Diagnostic dilemmas in the short rib polydactylysyndrome group. American Journal of Medical Genetics. Cilt 111. sf 392-400, 2002.
45. Hall CM,ELÇİOĞLU HURİYE NURSEL,Shaw DG. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. Journal of Medical Genetics. Cilt 35. sf 566-572, 1998.
46. ELÇİOĞLU HURİYE NURSEL,Vellodi A,Hall CM. Dysosteosclerosis a report of three new cases and evolution of the radiological findings. Journal of Medical Genetics. Cilt 39. sf 603-607, 2002.
47. Schmidts M,Arts H H,Bongers E M,Yap Z,Oud M M,Antony D,Duijkers L,Emes R D,Stalker J,Yntema J-B L,Plagnol V,Hoischen A,Gilissen C,Forsythe E,Lausch E,Veltman J A,Roeleveld N,Superti-Furga A,Kutkowska-Kazmierczak A,Kamsteeg E-J,ELÇİOĞLU HURİYE NURSEL,Graul-Neumann L M,Devriendt K,Smithson S F,Wellesley D,Hennekam R C,KAYSERİLİ KARABEY HÜLYA,Scambler P J,Beales P L,Knoers N V,Roepman R,Mitchison H M. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy Jeune syndrome without major polydactyly renal or retinal involvement. Journal of Medical Genetics. Cilt 50. sf 309-323, 2013. (Yayına Ulaşmak İçin Tıklayınız)
48. Beaty T H,Taub M A,Scott A F,Murray J C,Marazita M L,Schwender H,Parker M M,Hetmanski J B,Balakrishnan P,Mansilla M A,Ludwig K U,Noethen M M,ELÇİOĞLU HURİYE NURSEL,Ruczinski I. Confirming genes influencing risk to cleft lip with without cleft palate in a case parent trio study. Human Genetics. Cilt 132. sf 771-781, 2013. (Yayına Ulaşmak İçin Tıklayınız)
49. Semiç AY,BİRCAN RIFAT,ÇELEBİLER ÖZHAN BEKİR,AKARSU AYŞE NURTEN,ELÇİOĞLU HURİYE NURSEL. Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population a case parent study. Turkish Journal of Pediatrics. Cilt 54. sf 617-625, 2012.
50. Karabas L,Esen F,Celiker H,ELÇİOĞLU HURİYE NURSEL,Cerman E,ERASLAN MUHSİN,Kazokoglu H,Sahin O. Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism. British Journal of Ophthalmology. Cilt 98. sf 1087-1090, 2014. (Yayına Ulaşmak İçin Tıklayınız)
KİTAPLAR
ULUSAL
BİLİMSEL KİTAP
KİTAP BÖLÜMÜ
1. ELÇİOĞLU HURİYE NURSEL, Neonatoloji, 2017.
2. ELÇİOĞLU HURİYE NURSEL, Tıbbi Genetikte Klinik Uygulamalar, Kayseri. 2015.
EDİTÖRLÜKLER
Henüz içerik girilmemiş.
BİLDİRİLER
ULUSLARARASI
1. BAYRAM YAVUZ,ULUDAĞ ALKAYA DİLEK,pehlivan davut,Gezdirici A,SILAN FATMA,ÖZDEMİR ÖZTÜRK,ELÇİOĞLU HURİYE NURSEL,YILDIZ ONUR,yavuz şahin,TÜYSÜZ BEYHAN, "Whole exome sequencing reveals potential oligogenic inheritance andcandidate novel genes in patients with arthrogryposis", American Society of Human Genetics 67thAnnual Meeting, 2017. (Yayına Ulaşmak İçin Tıklayınız)
2. Martins Carla,Segal S Leitsner,Pshezhetsky Alexy,ELÇİOĞLU HURİYE NURSEL, "Molecular characterization and haplotype analysis in a large group of Mucoplysachrarisosis type IIC (MPS IIIC) patients reveal the evolutionary hystory of the disease", ESHG 2017 Kopenhagen, 2017.
3. Martins Carla,Pshezhetsky Alexy,Frassinetti de Medeiros,ELÇİOĞLU HURİYE NURSEL, "Mutation spectrum and haplotype study of mcopolysaccharidosis type IIIC patients reveal possible migration events and founder effects of HGSNAT mutations", Wordl Symposium San Diego- USA., 2017.
4. BAYRAM YAVUZ,PEHLİVAN DAVUT,TÜYSÜZ BEYHAN,ELÇİOĞLU HURİYE NURSEL, "Whole exome sequencing reveals potetial oligenic inheritance and candidate novel genes in patients with arthrogryposis", ASHG 67th Annual meeting, 2017.
5. AKALIN İBRAHİM,ELÇİOĞLU HURİYE NURSEL,CANDAN CENGİZ,YILMAZ S,Yücetürk B, "A novel homozygous IFT122 p I460N c 1379T A mutation inSensenbrenner syndrome a rare disorder within two cousins", ESHG kongresi, 2016.
6. BAYRAM YAVUZ,Karaca E,Çoban Akdemir Z,Aydın H,Gezdirici A,TORUN DİLEK,PEHLİVAN DAVUT,Aslan H,ELÇİOĞLU HURİYE NURSEL,Lupski J, "Molecular etiology of arthrogryposis in a cohort of families of Turkish origin Y Bayram 1 E Karaca 1 Z Coban Akdemir 1 H Aydin 2 A Gezdirici 3 D Torun 4 S Tug Bozdogan 5 S Isikay 6 M M Atik 1 T Gambin 1 A Karaman 7 D Pehlivan 1 H Aslan 8 O Ozalp Yuregir 9 S N Jhangiani 10 E Boerwinkle 10 11 R A Gibbs 10 N Elcioglu 12 B Tuysuz 13 J R Lupski", Congress ASHG 2015, 2015.
7. Bögershausen N,Tsai I,Pohl E,ŞİMŞEK KİPER PELİN ÖZLEM,Beleggia F,Percin FE,Keupp K,ALANAY YASEMİN,KAYSERİLİ KARABEY HÜLYA,ELÇİOĞLU HURİYE NURSEL, "Spotlight on the pathogenesis of Kabuki syndrome", European Human GeneticsConference 2015, 2015.
8. Porter LF,Gall GG,Williamson S,Selley J,Knight D,ELÇİOĞLU HURİYE NURSEL,Elçioğlu M,Lund A, "A molecular network surrounding dysregulated H3K9 di methylation in PRDM5 associated disease", European Human GeneticsConference 2015, 2015.
9. Ranza E,Huber C,Levin N,Baujat G,ALANAY YASEMİN,Al Gazali L,Bitoun P,Boute O,Coubes C,ELÇİOĞLU HURİYE NURSEL, "CLINICAL AND MOLECULAR STUDY OF A SERIES OF 31 PATIENTS WITH CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", 12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING’, 2015.
10. ELÇİOĞLU HURİYE NURSEL, "Mucolipidosis III Gamma Patients", 12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING, 2015.
11. Alp ZÜ,MEMİŞOĞLU ASLI,ELÇİOĞLU HURİYE NURSEL,ÖZEK EREN, "Double aneuploidy Down Klinefelter Syndrome", 1. EURYPA congress, 2015.
12. ELÇİOĞLU HURİYE NURSEL, "The Skeletal Changes in Hurler s Syndrome afterBone Marrow Transplantation", 12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING, 2015.
13. Demirkol YK,Alp ZÜ,BİLGEN HÜLYA SELVA,ELÇİOĞLU HURİYE NURSEL, "RASopaties two case reports", 1. EURYPA congress, İstanbul, 2015.
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