Prof. Dr. HURİYE NURSEL ELÇİOĞLU

Yayın Ağı

Makaleler 151

1. Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants

Yeter B., Kendir Demirkol Y., Usluer E., Görüşen Kavak İ., Ergin S. G., ELÇİOĞLU H. N.

Genes , cilt.16, sa.10, 2025 (SCI-Expanded, Scopus)

2. Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1

Yeter B., Demirkol Y. K., Usluer E., Oğuz S., Eser M., Yarar M. H., et al.

European Journal of Pediatrics , cilt.184, sa.8, 2025 (SCI-Expanded, Scopus)

3. Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Güneş N., Alkaya D. U., Kurugoğlu S., Özyalvaç N., Bursalı A., Elçioğlu N. H., et al.

Pediatric radiology , cilt.55, ss.505-519, 2025 (SCI-Expanded, Scopus)

4. Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Akalın A., Özalkak Ş., Yıldırım R., Karakaya A. A., Kolbaşı B., Durmuşalioğlu E. A., et al.

European journal of pediatrics , cilt.184, sa.1, ss.68, 2024 (SCI-Expanded)

5. Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2

Akalın A., Ayaz E., Soğukpınar M., Avcı-Durmuşalioğlu E., Ürel-Demir G., YILDIZ A. E., et al.

American Journal of Medical Genetics, Part A , cilt.194, sa.10, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

6. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Lesmann H., Hustinx A., Moosa S., Klinkhammer H., Marchi E., Caro P., et al.

medRxiv : the preprint server for health sciences , 2024 (Hakemli Dergi) Sürdürülebilir Kalkınma

7. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

Du H., Dardas Z., Jolly A., Grochowski C. M., Jhangiani S. N., Li H., et al.

Nucleic acids research , cilt.52, 2024 (SCI-Expanded, Scopus)

8. Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series

Noyan B., Elcioglu N. H., Tebani A., Bekri S.

Molecular Syndromology , cilt.15, sa.3, ss.194-201, 2024 (SCI-Expanded, Scopus)

9. Autosomal recessive otospondylo-mega-epiphyseal dysplasia: Comprehensive clinical review of a pediatric cohort

MUTLU H., ELÇİOĞLU H. N., Kiliç E.

Clinical Dysmorphology , cilt.32, sa.4, ss.151-155, 2023 (SCI-Expanded)

10. Management of acute metabolic crisis in TANGO2 deficiency: A case report

Yllmaz-Gümüş E., ELÇİOĞLU H. N., Genç E., Arlcl Ş., Öztürk G., Yaplcl Ö., et al.

Journal of Pediatric Endocrinology and Metabolism , 2023 (SCI-Expanded)

11. **A novel mutation in the TRIP11 gene: Diagnostic approach from relatively common skeletal dysplasias to an extremely rare Odontochondrodysplasia.**

Yeter B., Dilruba Aslanger A., Yesil G., Elcioglu N. H.

Journal of clinical research in pediatric endocrinology , cilt.14, ss.475-480, 2022 (SCI-Expanded, Scopus, TRDizin)

12. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Duan R., Hijazi H., Gulec E. Y., Eker H. K., Costa S. R., Sahin Y., et al.

HUMAN GENETICS AND GENOMICS ADVANCES , cilt.3, sa.4, 2022 (ESCI, Scopus)

13. Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

Panagiotou E. S., Fernandez-Fuentes N., Farraj L. A., McKibbin M., ELÇİOĞLU H. N., Jafri H., et al.

MOLECULAR VISION , cilt.28, ss.57-69, 2022 (SCI-Expanded, Scopus)

14. Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

Goenenc I. I., ELÇİOĞLU H. N., Grijalva C. M., Aras S., Grossmann N., Praulich I., et al.

CLINICAL GENETICS , cilt.101, sa.5-6, ss.559-564, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

15. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Tebani A., Sudrie-Arnaud B., Dabaj I., Torre S., Domitille L., Snanoudj S., et al.

JOURNAL OF MEDICAL GENETICS , cilt.59, sa.4, ss.377-384, 2022 (SCI-Expanded)

16. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Mitani T., Isikay S., Gezdirici A., Gulec E. Y., Punetha J., Fatih J. M., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.108, sa.10, ss.1981-2005, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease

Khuller K., Yigit G., Grijalva C. M., Altmueller J., Thiele H., Nurnberg P., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.10, 2021 (SCI-Expanded, Scopus)

18. Erken yaşlanma hastalığı Progeria: Hücresel mekanizma ve yeni Tedavi stratejileri

Elçioğlu H. N.

Türkiye Klinikleri Pediatri Dergisi , cilt.1, sa.1, ss.157-164, 2021 (Scopus)

19. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients

Albayrak H. M., Elcioglu N. H., YETER DOĞAN B., Karaer K.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.8, ss.2325-2334, 2021 (SCI-Expanded, Scopus)

20. Genome sequencing in families with congenital limb malformations

Elsner J., Mensah M. A., Holtgrewe M., Hertzberg J., Bigoni S., Busche A., et al.

HUMAN GENETICS , cilt.140, sa.8, ss.1229-1239, 2021 (SCI-Expanded, Scopus)

21. Jeune Syndrome with a novel DYNC2H1 mutation

Elcioglu N. H., Yeter B., Xue J. Y., Wang Z., Guo L., Nishimura G., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.835-836, 2020 (SCI-Expanded)

22. Genotype-phenotype correlations in hereditary multiple exostoses

Akalin I., Kurosawa K., Yeter B., Akbas E., Nishimura G., Wuyts W., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.834, 2020 (SCI-Expanded)

23. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Mulder P. A., van Balkom I. D. C., Landlust A. M., Priolo M., Menke L. A., Acero I. H., et al.

Journal of intellectual disability research : JIDR , cilt.64, sa.12, ss.956-969, 2020 (SCI-Expanded, SSCI, Scopus)

24. A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Eltan M., Alavanda C., Yavas Abali Z., Ergenekon P., Yalindag Ozturk N., Sakar M., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.107, ss.96-103, 2020 (SCI-Expanded, Scopus)

25. The genomic and clinical landscape of fetal akinesia

Pergande M., Motameny S., Oezdemir O., Kreutzer M., Wang H., Daimagueler H., et al.

GENETICS IN MEDICINE , cilt.22, sa.3, ss.511-523, 2020 (SCI-Expanded, Scopus)

26. TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

Xue J., Wang Z., Shinagawa S., Ohashi H., Otomo N., Elcioglu N. H., et al.

JOURNAL OF BONE AND MINERAL RESEARCH , cilt.34, sa.10, ss.1873-1879, 2019 (SCI-Expanded, Scopus)

27. A rare cause of hypophosphatemia: Raine Syndrome

Eltan M., Ata P., Kırkgöz T., Alavanda C., Kaygusuz S. B., Menevse T. S., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.384, 2019 (SCI-Expanded)

28. Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

Martins C., de Medeiros P. F., Leistner-Segal S., Dridi L., Elcioglu N., Wood J., et al.

HUMAN MUTATION , cilt.40, sa.8, ss.1084-1100, 2019 (SCI-Expanded, Scopus)

29. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Pehlivan D., Bayram Y., Gunes N., Akdemir Z. C., Shukla A., Bierhals T., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.105, sa.1, ss.132-150, 2019 (SCI-Expanded, Scopus)

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

van der Sluijs P. J., Jansen S., Vergano S. A., Adachi-Fukuda M., ALANAY Y., AlKindy A., et al.

GENETICS IN MEDICINE , cilt.21, sa.6, ss.1295-1307, 2019 (SCI-Expanded, Scopus)

31. Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta

Nampoothiri S., Guillemyn B., Elcioglu N., Jagadeesh S., Yesodharan D., Suresh B., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.179, sa.6, ss.908-914, 2019 (SCI-Expanded, Scopus)

32. Progressive pseudorheumotoid dysplasia: A presentation of four cases with slow and rapid progression and effects of early rehabilitation program

Giray E., YAĞCI İ., ELÇİOĞLU H. N.

TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION , cilt.65, sa.3, ss.290-297, 2019 (SCI-Expanded)

33. Does the clinical phenotype of mucolipidosis-III gamma differ from its alpha beta counterpart?: supporting facts in a cohort of 18 patients

Nampoothiri S., Elcioglu N. H., KOCA S. S., Yesodharan D., Chandrababu K. K., Vinod K. V., et al.

CLINICAL DYSMORPHOLOGY , cilt.28, sa.1, ss.7-16, 2019 (SCI-Expanded, Scopus)

34. Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger J., van Beusekom E., Ramsay J. K., McKie L., Al-Gazali L., Pallotta R., et al.

PLoS genetics , cilt.14, sa.12, 2018 (SCI-Expanded, Scopus)

35. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Lehalle D., Altunoglu U., Bruel A., Assoum M., Duffourd Y., Masurel A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.176, sa.12, ss.2740-2750, 2018 (SCI-Expanded)

36. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

McSherry M., Masih K. E., Elcioglu N. H., Celik P., Balci O., Cengiz F. B., et al.

PLOS ONE , cilt.13, sa.11, 2018 (SCI-Expanded, Scopus)

37. Further delineation of Malan syndrome

Priolo M., Schanze D., Tatton-Brown K., Mulder P. A., Tenorio J., Kooblall K., et al.

HUMAN MUTATION , cilt.39, sa.9, ss.1226-1237, 2018 (SCI-Expanded, Scopus)

38. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Martin C., Sarlos K., Logan C. V., Thakur R. S., Parry D. A., Bizard A. H., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.103, sa.2, ss.221-231, 2018 (SCI-Expanded, Scopus)

39. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

Di Gioia S. A., Shaaban S., TÜYSÜZ B., Elcioglu N. H., Chan W., Robson C. D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.103, sa.1, ss.115-124, 2018 (SCI-Expanded)

40. Dysosteosclerosis is also caused by TNFRSF11A mutation

Guo L., Elcioglu N. H., Karalar O. K., Topkar M. O., Wang Z., Sakamoto Y., et al.

JOURNAL OF HUMAN GENETICS , cilt.63, sa.6, ss.769-774, 2018 (SCI-Expanded, Scopus)

41. Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants

Colombo E. A., Elcioglu N. H., Graziano C., Farinelli P., Di Fede E., Neri I., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.38, sa.4, ss.494-502, 2018 (SCI-Expanded) Sürdürülebilir Kalkınma

42. Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

Colombo E. A., Locatelli A., Cubells Sanchez L., Romeo S., Elcioglu N. H., Maystadt I., et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , cilt.19, sa.4, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

43. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS

Michaud V., Lasseaux E., Plaisant C., Verloes A., Perdomo-Trujillo Y., Hamel C., et al.

PIGMENT CELL & MELANOMA RESEARCH , cilt.30, sa.6, ss.563-570, 2017 (SCI-Expanded, Scopus)

44. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Guo L., Elcioglu N. H., Mizumoto S., Wang Z., Noyan B., Albayrak H. M., et al.

JOURNAL OF HUMAN GENETICS , cilt.62, sa.8, ss.797-801, 2017 (SCI-Expanded)

45. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Bramswig N. C., Luedecke H., Hamdan F. F., Altmueller J., Beleggia F., Elcioglu N. H., et al.

HUMAN GENETICS , cilt.136, sa.7, ss.821-834, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

46. Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil K. D., Greenland C. M., ArsIan S., Paneque A. L., GÜRKAN H., Ulusal S. D., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.98, ss.59-63, 2017 (SCI-Expanded, Scopus)

47. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

Bayram Y., White J. J., Elcioglu N., Cho M. T., Zadeh N., Gedikbasi A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.101, sa.1, ss.149-156, 2017 (SCI-Expanded, Scopus)

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

Ranza E., Huber C., Levin N., Baujat G., Bole-Feysot C., Nitschke P., et al.

CLINICAL GENETICS , cilt.91, sa.6, ss.868-880, 2017 (SCI-Expanded, Scopus)

49. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Guo L., Elcioglu N. H., Iida A., Demirkol Y. K., Aras S., Matsumoto N., et al.

JOURNAL OF HUMAN GENETICS , cilt.62, sa.3, ss.447-451, 2017 (SCI-Expanded, Scopus)

50. Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum

Guo L., Elcioglu N. H., Wang Z., Demirkol Y. K., Isguven P., Matsumoto N., et al.

HUMAN GENOME VARIATION , cilt.4, 2017 (ESCI)

51. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Boegershausen N., Gatinois V., Riehmer V., Kayserili H., Becker J., Thoenes M., et al.

HUMAN MUTATION , cilt.37, sa.9, ss.847-864, 2016 (SCI-Expanded, Scopus)

52. Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes

Kiykim A., AYDINER E., ÖĞÜLÜR İ., BARIŞ S., Ozen A. O., Serifov K., et al.

ASTIM ALLERJI IMMUNOLOJI , cilt.14, sa.2, ss.98-102, 2016 (ESCI)

53. Successful treatment of pityriasis lichenoides with narrow band ultraviolet B therapy in a patient with KID syndrome a case report

salman A., SEÇKİN GENÇOSMANOĞLU D., YÜCELTEN A. D., elcioğlu n., Richard G., DEMİRKESEN C.

Dermatology Online Journal , cilt.22, sa.5, 2016 (Scopus)

54. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Bayram Y., Karaca E., Akdemir Z. C., Yilmaz E. O., Tayfun G. A., AYDIN H., et al.

JOURNAL OF CLINICAL INVESTIGATION , cilt.126, sa.2, ss.762-778, 2016 (SCI-Expanded, Scopus)

55. A thanatophoric dysplasia type i case with a fgfr3 p.r248c mutation and survival ibeyond the neonatal period

Sahin S., Ograg H., Atasaslan E., Akcan A., Kaynak Turkmen M., Moosa S., et al.

Genetic Counseling , cilt.27, sa.4, ss.513-517, 2016 (SCI-Expanded)

56. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Harley M. E., Murina O., Leitch A., Higgs M. R., Bicknell L. S., Yigit G., et al.

NATURE GENETICS , cilt.48, sa.1, ss.36-45, 2016 (SCI-Expanded)

57. Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with keratitis-ichthyosis-deafness syndrome: A case report

SALMAN A., Gencosmanoglu D. S., YÜCELTEN A. D., Elcioglu N., Richard G., Demirkesen C.

Dermatology Online Journal , cilt.22, sa.5, 2016 (Scopus)

58. A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD

Sahin S., Ograg H., Aslan E. A., Akcan A. B., Turkmen M. K., Moosa S., et al.

GENETIC COUNSELING , cilt.27, sa.4, ss.513-517, 2016 (SCI-Expanded)

59. A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

Porter L. F., Galli G. G., Williamson S., Selley J., Knight D., Elcioglu N., et al.

HUMAN MOLECULAR GENETICS , cilt.24, sa.23, ss.6565-6579, 2015 (SCI-Expanded, Scopus)

60. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Spena S., Milani D., Rusconi D., Negri G., Colapietro P., Elcioglu N., et al.

CLINICAL GENETICS , cilt.88, sa.5, ss.431-440, 2015 (SCI-Expanded, Scopus)

61. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Karaca E., Harel T., Pehlivan D., Jhangiani S. N., Gambin T., Akdemir Z. C., et al.

NEURON , cilt.88, sa.3, ss.499-513, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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

Boegershausen N., Tsai I., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., Percin E. F., et al.

JOURNAL OF CLINICAL INVESTIGATION , cilt.125, sa.9, ss.3585-3599, 2015 (SCI-Expanded, Scopus)

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

Atik T., Koparir A., Bademci G., Foster J., Altunoglu U., Mutlu G. Y., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.10, 2015 (SCI-Expanded, Scopus)

64. Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Rosin N., Elcioglu N. H., Beleggia F., Isguven P., Altmueller J., Thiele H., et al.

HUMAN MOLECULAR GENETICS , cilt.24, sa.13, ss.3708-3717, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

65. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Pehlivan D., Akdemir Z. C., Karaca E., Bayram Y., Jhangiani S., Yildiz E. P., et al.

HUMAN GENETICS , cilt.134, sa.6, ss.671-673, 2015 (SCI-Expanded, Scopus)

66. 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)

67. The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey

Ozanturk A., Marshall J. D., Collin G. B., DÜZENLİ S., Marshall R. P., Candan S., et al.

JOURNAL OF HUMAN GENETICS , cilt.60, sa.1, ss.1-9, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

68. Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Acuna-Hidalgo R., Schanze D., Kariminejad A., Nordgren A., Kariminejad M. H., Conner P., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.95, sa.3, ss.285-293, 2014 (SCI-Expanded, Scopus)

69. Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

Bayram Y., Pehlivan D., Karaca E., Gambin T., Jhangiani S. N., Erdin S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.9, ss.2328-2334, 2014 (SCI-Expanded, Scopus)

70. Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism

Karabas L., Esen F., ÇELİKER ATABERK H., Elcioglu N., ÇERMAN E., ERASLAN M., et al.

BRITISH JOURNAL OF OPHTHALMOLOGY , cilt.98, sa.8, ss.1087-1090, 2014 (SCI-Expanded, Scopus)

71. Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism

Karabas L., Esen F., ÇELİKER ATABERK H., Elcioglu N., ÇERMAN E., ERASLAN M., et al.

BRITISH JOURNAL OF OPHTHALMOLOGY , cilt.98, sa.8, ss.1135-1136, 2014 (SCI-Expanded)

72. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Del Giudice E., Macca M., Imperati F., D'Amico A., Parent P., Pasquier L., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.9, 2014 (SCI-Expanded)

73. Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients

Khedhiri S., Chkioua L., Elcioglu N., Laradi S., Miled A.

Pathologie Biologie , cilt.62, sa.1, ss.38-40, 2014 (SCI-Expanded, Scopus)

74. Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB)Gene

Zanetti A., Onenli-Mungan N., Elcioglu N., Ozbek M. N., KOR D., Lenzini E., et al.

JIMD REPORTS, VOL 14 , cilt.14, ss.1-9, 2014 (SCI-Expanded)

75. WERNER SYNDROME: CLINICAL EVALUATION OF TWO CASES AND A NOVEL MUTATION

Mansur A. T., Elcioglu N. H., Demirci G. T.

GENETIC COUNSELING , cilt.25, sa.2, ss.119-127, 2014 (SCI-Expanded, Scopus)

76. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Wieczorek D., Boegershausen N., Beleggia F., Steiner-Haldenstaett S., Pohl E., Li Y., et al.

Human Molecular Genetics , cilt.22, sa.25, ss.5121-5135, 2013 (SCI-Expanded, Scopus)

77. Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy

Schmidts M., Vodopiutz J., Christou-Savina S., Cortes C. R., McInerney-Leo A. M., Emes R. D., et al.

American Journal of Human Genetics , cilt.93, sa.5, ss.932-944, 2013 (SCI-Expanded, Scopus)

78. Mutations in the interleukin receptor IL11RA cause autosomal recessive crouzon-like craniosynostosis

Keupp K., Li Y., Vargel I., Hoischen A., Richardson R., Neveling K., et al.

Molecular Genetics and Genomic Medicine , cilt.1, sa.4, ss.223-237, 2013 (SCI-Expanded, Scopus)

79. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Iida A., ŞİMŞEK KİPER P. Ö., Mizumoto S., Hoshino T., Elcioglu N., Horemuzova E., et al.

HUMAN MUTATION , cilt.34, sa.10, ss.1381-1386, 2013 (SCI-Expanded, Scopus)

80. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study

Beaty T. H., Taub M. A., Scott A. F., Murray J. C., Marazita M. L., Schwender H., et al.

HUMAN GENETICS , cilt.132, sa.7, ss.771-781, 2013 (SCI-Expanded, Scopus)

81. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Schmidts M., Arts H. H., Bongers E. M. H. F., Yap Z., Oud M. M., Antony D., et al.

JOURNAL OF MEDICAL GENETICS , cilt.50, sa.5, ss.309-323, 2013 (SCI-Expanded, Scopus)

82. Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Twigg S. R. F., Lloyd D., Jenkins D., Elcioglu N. E., Cooper C. D. O., Al-Sannaa N., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.91, sa.5, ss.897-905, 2012 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

83. Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature

Schlump J., Stein A., Hehr U., Karen T., Moeller-Hartmann C., Elcioglu N. H., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.171, sa.11, ss.1611-1618, 2012 (SCI-Expanded, Scopus)

84. 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)

85. PAPSS2 mutations cause autosomal recessive brachyolmia

Miyake N., Elcioglu N. H., Iida A., Isguven P., Dai J., Murakami N., et al.

JOURNAL OF MEDICAL GENETICS , cilt.49, sa.8, ss.533-538, 2012 (SCI-Expanded, Scopus)

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

Segarra N. G., Mittaz L., Campos-Xavier A. B., Bartels C. F., TÜYSÜZ B., ALANAY Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS , cilt.160C, sa.3, ss.217-229, 2012 (SCI-Expanded, Scopus)

87. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Khan K., Logan C. V., McKibbin M., Sheridan E., Elcioglu N. H., Yenice Ö., et al.

HUMAN MOLECULAR GENETICS , cilt.21, sa.4, ss.776-783, 2012 (SCI-Expanded, Scopus)

88. Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Colombo E. A., Elcioglu N. H., Yucelten D., Altunay I., Cetincelik U., Teti A., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.7, 2012 (SCI-Expanded, Scopus)

89. A SHORT RIB POLYDACTYLY SYNDROME OVERLAPPING BOTH LETHAL AND NONLETHAL TYPES

Yigiter A. B., Guducu N., Kavak Z. N., Isci H., Elcioglu N.

GENETIC COUNSELING , cilt.23, sa.2, ss.231-237, 2012 (SCI-Expanded) Sürdürülebilir Kalkınma

90. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Rainger J., van Beusekom E., Ramsay J. K., McKie L., Al-Gazali L., Pallotta R., et al.

PLOS GENETICS , cilt.7, sa.7, 2011 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

91. Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

Jenkins D., Baynam G., De Catte L., Elcioglu N., Gabbett M. T., Hudgins L., et al.

HUMAN MUTATION , cilt.32, sa.4, 2011 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

92. Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

Kelley B. P., Malfait F., Bonafe L., Baldridge D., Homan E., Symoens S., et al.

JOURNAL OF BONE AND MINERAL RESEARCH , cilt.26, sa.3, ss.666-672, 2011 (SCI-Expanded, Scopus)

93. 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 , cilt.152A, sa.10, ss.2628-2633, 2010 (SCI-Expanded, Scopus)

94. LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Li Y., Pawlik B., Elcioglu N., Aglan M., Kayserili H., Yigit G., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.5, ss.696-706, 2010 (SCI-Expanded, Scopus)

95. A report of a patient with duplication of 7p13 -> pter and deletion of 2p23 -> pter due to a maternal 2p;7p translocation

Turkover B. B., Sayar C., Toksoy G., Elcioglu N.

TURKISH JOURNAL OF PEDIATRICS , cilt.51, sa.2, ss.174-179, 2009 (SCI-Expanded)

96. Mucopolysaccharidosis Type II: long-term follow-up after bone marrow transplantation

Elcioglu N. H., Vellodi A., Hall C. M.

INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS , cilt.47, 2009 (SCI-Expanded)

97. A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D

Elcioglu N. H., Pawlik B., Colak B., Beck M., Wollnik B.

GENETIC COUNSELING , cilt.20, sa.2, ss.133-139, 2009 (SCI-Expanded)

98. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

Rooryck C., Morice-Picard F., Elcioglu N. H., Lacombe D., Taieb A., Arveiler B.

PIGMENT CELL & MELANOMA RESEARCH , cilt.21, sa.5, ss.583-587, 2008 (SCI-Expanded, Scopus)

99. Mutational Spectrum of the Oral-Facial-Digital Type I Syndrome: A Study on a Large Collection of Patients

Prattichizzo C., Macca M., Novelli V., Giorgio G., Barra A., Franco B.

HUMAN MUTATION , cilt.29, sa.10, ss.1237-1246, 2008 (SCI-Expanded)

100. Adult height in Turkish patients with Turner syndrome without growth hormone treatment

BEREKET A., Turan S., Elcioglu N., Hacihanefioglu S., Memioglu N., Bas F., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.5, ss.415-417, 2008 (SCI-Expanded)

101. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - An autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

Giunta C., Elcioglu N. H., Albrecht B., Eich G., Chambaz C., Janecke A. R., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.82, sa.6, ss.1290-1305, 2008 (SCI-Expanded, Scopus)

102. Mucopolysaccharidosis disorders - Abstracts

Elcioglu N., Colak B., Beck M.

ACTA PAEDIATRICA , cilt.97, ss.97, 2008 (SCI-Expanded)

103. 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 , cilt.143A, sa.12, ss.1308-1312, 2007 (SCI-Expanded, Scopus)

104. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Beales P. L., Bland E., Tobin J. L., Bacchelli C., Tuysuz B., Hill J., et al.

NATURE GENETICS , cilt.39, sa.6, ss.727-729, 2007 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

105. Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement

Mansur A. T., Elcioglu N. H., Aydingoz I. E., Akkaya A. D., Serdar Z. A., Herz C., et al.

ACTA DERMATO-VENEREOLOGICA , cilt.87, sa.6, ss.563-565, 2007 (SCI-Expanded, Scopus)

106. Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family

Lupi A., Rossi A., Campari E., Pecora F., Lund A. M., Elcioglu N. H., et al.

JOURNAL OF MEDICAL GENETICS , cilt.43, sa.12, 2006 (SCI-Expanded, Scopus)

107. Tracheobronchial calcification associated with Keutel syndrome

Oezdemir N., Ersu R., Akalin F., Karadag B. T., Kut A., Karakoc F., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.48, sa.4, ss.357-361, 2006 (SCI-Expanded)

108. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR

Basgul A., Kavak Z., Akman I., Basgul A., Gokaslan H., ELÇİOĞLU H. N.

Clinical and Experimental Obstetrics and Gynecology , cilt.33, sa.2, ss.105-106, 2006 (SCI-Expanded)

109. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

Bargal R., Zeigler M., Abu-Libdeh B., Zuri V., Mandel H., Ben Neriah Z., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.88, sa.4, ss.359-363, 2006 (SCI-Expanded, Scopus)

110. Prolidase deficiency associated with hemoglobin O trait and microcytic anemia

Aytug A., Ergun T., Ratip S., Elcioglu N., Gultepe M., Mercan E., et al.

INTERNATIONAL JOURNAL OF DERMATOLOGY , cilt.45, sa.7, ss.867-868, 2006 (SCI-Expanded)

111. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Stoetzel C., Laurier V., Davis E., Muller J., Rix S., Badano J., et al.

NATURE GENETICS , cilt.38, sa.5, ss.521-524, 2006 (SCI-Expanded, Scopus)

112. Antenatal diagnosis of velocardiofacial syndrome by 3D ultrasonography

Basgul A., Kavak Z., Kotiloglu E., Akman I., Akalin F., Elcioglu N., et al.

JOURNAL OF PERINATAL MEDICINE , cilt.34, sa.2, ss.177-178, 2006 (SCI-Expanded)

113. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Uyanik G., Elcioglu N., Penzien J., Gross C., Yilmaz Y., Olmez A., et al.

NEUROLOGY , cilt.66, sa.7, ss.1044-1048, 2006 (SCI-Expanded)

114. Muir-Torre syndrome

Tuncel A., Çelebiler Ö., ELÇİOĞLU H. N.

European Journal of Plastic Surgery , cilt.27, sa.5, ss.241-243, 2004 (SCI-Expanded)

115. Progeria: A new kind of Laminopathy Report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders

Brune T., Bonne G., Denecke J., Elcioglu N., Hennekam R. C., Marquardt T., et al.

Pediatric Endocrinology Reviews , cilt.2, sa.1, ss.39-45, 2004 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

116. Recessive omodysplasia: five new cases and review of the literature

Elcioglu N., Gustavson K., Wilkie A., Yuksel-Apak M., Spranger J.

PEDIATRIC RADIOLOGY , cilt.34, sa.1, ss.75-82, 2004 (SCI-Expanded)

117. Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene

Elcioglu N., Akalin F., Elcioglu M., Comeglio P., Child A.

GENETIC COUNSELING , cilt.15, sa.2, ss.219-225, 2004 (SCI-Expanded) Sürdürülebilir Kalkınma

118. Metatropic dysplasia lethal variants

Hall C., Elcioglu N.

PEDIATRIC RADIOLOGY , cilt.34, sa.1, ss.66-74, 2004 (SCI-Expanded)

119. Short rib-polydactyly syndrome: a case report

Turkmen M., Temocin K., Acar C., Levi E., Karaman C., Inan G., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.45, sa.4, ss.359-362, 2003 (SCI-Expanded)

120. Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree

Toker E., Elcioglu N., Ozcan E., Yenice Ö., Ogut M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.121A, sa.1, ss.25-30, 2003 (SCI-Expanded, Scopus)

121. Alkaptonuria caused by compound heterozygote mutations

Elcioglu N., Aytug A., Muller C., Gurbuz O., Ergun T., Kotiloglu E., et al.

GENETIC COUNSELING , cilt.14, sa.2, ss.207-213, 2003 (SCI-Expanded)

122. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

Hall C., Elcioglu N., MacDermot K., Offiah A., Winter R.

JOURNAL OF MEDICAL GENETICS , cilt.39, sa.9, ss.666-670, 2002 (SCI-Expanded)

123. Diagnostic dilemmas in the short rib - Polydactyly syndrome group

Elcioglu N., Hall C.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.111, sa.4, ss.392-400, 2002 (SCI-Expanded, Scopus)

124. Human Piebaldism: Six Novel Mutations of the Proto-oncogene KIT

Syrris P., Heathcote K., Carrozzo R., Devriendt K., Elcioglu N., Garrett C., et al.

HUMAN MUTATION , cilt.20, sa.3, 2002 (SCI-Expanded)

125. Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

Elcioglu N., Vellodi A., Hall C.

JOURNAL OF MEDICAL GENETICS , cilt.39, sa.8, ss.603-607, 2002 (SCI-Expanded)

126. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

Beales P., Katsanis N., Lewis R., Ansley S., Elcioglu N., Raza J., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.68, sa.3, ss.606-616, 2001 (SCI-Expanded, Scopus)

127. Pseudo-Torch syndrome: the autosomal recessive syndrome of microcephaly, intracranial calcification and dysmorphism, resembling intrauterine infection.. An additional observation

Elcioglu N., Alper G., Yilmaz Y.

JOURNAL OF MEDICAL GENETICS , cilt.37, 2000 (SCI-Expanded)

128. Fraser syndrome: Diagnosed in a 50-year-old museum specimen

Elcioglu H. N., Berry A.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.94, sa.3, ss.262-264, 2000 (SCI-Expanded)

129. A variant of Cenani-Lenz type syndactyly

SEVEN M., Yuksel A., Ozkilic A., Elcioglu N.

GENETIC COUNSELING , cilt.11, sa.1, ss.41-47, 2000 (SCI-Expanded)

130. Peroxisomal disorders: Clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families

Steinberg S., Elcioglu N., Slade C., Sankaralingam A., Dennis N., Mohammed S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.85, sa.5, ss.502-510, 1999 (SCI-Expanded) Sürdürülebilir Kalkınma

131. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Beales P., Elcioglu N., Woolf A., Parker D., Flinter F.

JOURNAL OF MEDICAL GENETICS , cilt.36, sa.6, ss.437-446, 1999 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

132. A Rapp-Hodgkin like syndrome in three sibs: Clinical, dental and dermatoglyphic study

Atasu M., Akesi S., Elcioglu N., Yatmaz P., Ertas E.

CLINICAL DYSMORPHOLOGY , cilt.8, sa.2, ss.101-110, 1999 (SCI-Expanded)

133. Persistent mullerian duct syndrome - A case report

Erk A., Ozeren S., Ozbay O., Vural B., Elcioglu N.

JOURNAL OF REPRODUCTIVE MEDICINE , cilt.44, sa.2, ss.135-138, 1999 (SCI-Expanded)

134. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

Elcioglu N., Hall C.

JOURNAL OF MEDICAL GENETICS , cilt.35, sa.8, ss.690-694, 1998 (SCI-Expanded)

135. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

Hall C., Elcioglu N., Shaw D.

JOURNAL OF MEDICAL GENETICS , cilt.35, sa.7, ss.566-572, 1998 (SCI-Expanded)

136. A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder

Elcioglu N., Hall C.

JOURNAL OF MEDICAL GENETICS , cilt.35, sa.6, ss.505-507, 1998 (SCI-Expanded)

137. Jeune's asphyxiating thoracic dystrophy of the newborn

Sarimurat N., Elcioglu N., Tekant G., Elicevik M., Yeker D.

EUROPEAN JOURNAL OF PEDIATRIC SURGERY , cilt.8, sa.2, ss.100-101, 1998 (SCI-Expanded, Scopus)

138. Spondylometaphyseal dysplasia Sedaghatian type

Elcioglu N., Hall C.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.76, sa.5, ss.410-414, 1998 (SCI-Expanded)

139. Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type

Elcioglu N., Hall C.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.76, sa.3, ss.245-251, 1998 (SCI-Expanded, Scopus)

140. Tuberous sclerosis: Clinical evaluation in a family and implications for genetic counseling

Elcioglu N., Karatekin G., Elcioglu M., Nuhoglu A., Cenani A.

GENETIC COUNSELING , cilt.9, sa.2, ss.131-138, 1998 (SCI-Expanded)

141. FISH analysis in patients with clinical diagnosis of Williams syndrome

Elcioglu N., Mackie-Ogilvie C., Daker M., Berry A.

ACTA PAEDIATRICA , cilt.87, sa.1, ss.48-53, 1998 (SCI-Expanded)

142. Consanguineous Marriage in Turkey and its Meaning for Genetic Counselling Verwandtenehen in der Türkei und ihre Bedeutung für die genetische Praxis

Elçioglu N., Cenani A.

Munchener Medizinische Wochenschrift , cilt.139, sa.48, ss.715-718, 1997 (Scopus)

143. Partial trisomy of 15q due to inserted inverted duplication

Elcioglu N., Fear C., Berry A.

CLINICAL GENETICS , cilt.52, sa.6, ss.442-445, 1997 (SCI-Expanded)

144. Dermatoglyphics in patients with Cenani-Lenz type syndactyly: Studies in a new case

Elcioglu N., Atasu M., Cenani A.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.70, sa.4, ss.341-345, 1997 (SCI-Expanded, Scopus)

145. Monozygotic twins discordant for the Oculo-oto-radial syndrome (IVIC syndrome)

Elcioglu N., Berry A.

GENETIC COUNSELING , cilt.8, sa.3, ss.201-206, 1997 (SCI-Expanded)

146. RENAL-FUNCTION DISORDERS IN NEWBORNS WITH PERINATAL ASPHYXIA

ELCIOGLU N., SIRIN A., CAN G., EMRE S., NAYIR A., TANMAN F.

GEBURTSHILFE UND FRAUENHEILKUNDE , cilt.55, sa.3, ss.160-163, 1995 (SCI-Expanded)

147. A survey amongst German human genetic specialists about the situation of genetic counselling of Turkish patients in Germany EINE UMFRAGE BEI DEUTSCHEN HUMANGENETIKERN ZUR SITUATION DER GENETISCHEN BERATUNG VON TURKISCHEN RATSUCHENDEN IN DEUTSCHLAND

Elcioglu N.

Medizinische Genetik , cilt.7, sa.4, ss.442-447, 1995 (Scopus)

148. THE FREQUENCY OF GENETIC EYE DISEASES IN A GENETIC-COUNSELING CENTER

ELCIOGLU N., ELCIOGLU M., FUHRMANN W.

GENETIC COUNSELING , cilt.6, sa.4, ss.329-342, 1995 (SCI-Expanded)

149. Renal function in full-term newborn following neonatal asphyxia

Elcioglu N., Sirin A., Can G., Tanman F., Emre S., Nayir A.

Istanbul Tip Fakultesi Mecmuasi , cilt.55, sa.3, ss.437-443, 1992 (Scopus)

150. AN EPIDEMIOLOGIC APPROACH TO ACUTE-RENAL-FAILURE IN CHILDREN

GÖKÇAY E. G., EMRE S., TANMAN F., SIRIN A., ELCIOGLU N., DOLUNAY G.

JOURNAL OF TROPICAL PEDIATRICS , cilt.37, sa.4, ss.191-193, 1991 (SCI-Expanded)

151. Our experience with the patients of complete and corrected transposition of great arteries

Elcioglu N., Eker R., Sarioglu T., Aytac A., Barlas C., Cantez T.

Istanbul Tip Fakultesi Mecmuasi , cilt.53, sa.3, ss.15-20, 1990 (Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 34

1. Famililal Chilblain Lupus preading to two countries, affecting three Generations with variable phenotypic expressivity. Oral presentation [OP-45] 03.2022 Istanbul, Turkey

SERDAR Z., ELÇİOĞLU H. N., ALTAN FERHATOĞLU Z., Serdar İ.

7.INDERCOS International Dermatology and Cosmetology Congress, İstanbul, Türkiye, 9 - 12 Mart 2022, (Tam Metin Bildiri)

2. Çocuk Genetik Polikliniğinde Değerlendirilen Osteogenezis İmperfekta Olgularının Klinik veGenomik Özellikleri: Tek Merkez Deneyimi S110

KARALAR PEKUZ Ö. K., ELÇİOĞLU H. N.

3.Uluslararası Behçet Uz Çocuk Kongresi, 23-25 Eylül 2021 İzmir, İzmir, Türkiye, 23 - 25 Eylül 2021, ss.182-183, (Tam Metin Bildiri)

3. Katepsin C Gen Mutasyonuyla İlişkili Agresif Periodontitisli İki Kardeşin Ağız İçi Bulguları

GÜNGÖRMEK H. S., HAZNEDAROĞLU E., MENTEŞ A. R., ÖZEMRİ SAĞ Ş., ZEYBEK S., TEMEL Ş. G., et al.

1. Bursa Uluslararası Katılımlı Genetik Günleri: Dermatogenetik Sempozyumu, Bursa, Türkiye, 9 - 11 Ocak 2020, (Özet Bildiri)

4. DASS Sendromlu Çocuk Hastanın Oro-dental Bulguları

Karaman G. E., AKYÜZ S. H., ELÇİOĞLU H. N., MENTEŞ A. R.

26. Uluslararası Türk Pedodonti Derneği Kongresi, 10 - 13 Ekim 2019, (Özet Bildiri)

5. Hipokondroplazi: FGFR3 mutasyonlu 4 Olgu Sunumu

Aliyeva S., Tabakçı B., AKALIN İ., ELÇİOĞLU H. N.

4. Çocuk Genetik Kongresi, Türkiye, 25 - 27 Eylül 2019, (Tam Metin Bildiri)

6. S-17 MULTİPLE EXOSTOSES SENDROMLARINDA GENOTİP-FENOTİP İLİŞKİSİ

AKALIN İ., Tabakçı B., Kurosawa K., Nishimura G., Wuyts W., ELÇİOĞLU H. N.

4. Çocuk Genetik Kongresi, Türkiye, 25 - 27 Eylül 2019, (Tam Metin Bildiri)

7. A novel intermediate type osteopetrosis associated with a new homozygous CLCN7 mutation

AKALIN İ., Xue J., Doğan B., Yılmaz S., Long G., ASLAN E., et al.

14th International Skeletal Dysplasia Society Meeting, 11 - 14 Eylül 2019, cilt.1, ss.91, (Tam Metin Bildiri)

8. A rare cause of hypophosphatemia: Raine Syndrome

ELTAN M., ATA P., KIRKGÖZ T., ALAVANDA C., KAYGUSUZ S. B., SEVEN M. T., et al.

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Avusturya, 19 - 21 Eylül 2019, cilt.91, (Tam Metin Bildiri)

9. Exome sequencing reveals novel candidate genes and potential oligogenic inheritance in patients with the complex trait arthrogryposis

Pehlivan D., Bayram Y., Akdemir Z. C., Fatih J., Gibbs R., Posey J., et al.

71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92, (Özet Bildiri)

10. Molecular characterization and haplotype analysis in a large group of Mucopolysaccharidosis type IIIC (MPS IIIC) patients reveal the evolutionary history of the disease

Martins C., Frassinetti de Medeiros P., Leistner-Segal S., Elcioglu N., Behnam M., Lacerda L., et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.778, (Özet Bildiri)

11. Çocukluk Çağında Diyabetin Nadir bir Nedeni: Glukokinaz Mutasyonu (MODY 2)

İşgüven Ş. P., Bingöl Aydın D., Dönmez Ersavaş D., Elçioğlu H. N.

62. Türkiye Milli Pediatri kongresi-2. Kosova -Türkiye Pediatri kongresi, Antalya, Türkiye, 15 - 19 Kasım 2017, (Özet Bildiri) Sürdürülebilir Kalkınma

12. Whole exome sequencing reveals potetial oligenic inheritance and candidate novel genes in patients with arthrogryposis

BAYRAM Y., PEHLİVAN D., TÜYSÜZ B., ELÇİOĞLU H. N.

ASHG 67th Annual meeting, 17 Ekim 2017 - 21 Ocak 2018, (Özet Bildiri)

13. Whole exome sequencing reveals potential oligogenic inheritance andcandidate novel genes in patients with arthrogryposis

BAYRAM Y., ULUDAĞ ALKAYA D., pehlivan d., Gezdirici A., SILAN F., ÖZDEMİR Ö., et al.

American Society of Human Genetics 67thAnnual Meeting, 17 - 21 Ekim 2017, (Özet Bildiri)

14. Molecular characterization and haplotype analysis in a large group of Mucoplysachrarisosis type IIC (MPS IIIC) patients reveal the evolutionary hystory of the disease

Martins C., Segal S L., Pshezhetsky A., ELÇİOĞLU H. N.

ESHG 2017 Kopenhagen, 27 - 30 Mayıs 2017, (Özet Bildiri)

15. Mutation spectrum and haplotype study of mucopolysaccharidosis type IIIC patients reveal possible migration events and founder effects of HGSNAT mutations

Martins C., de Medeiros P. F., Leistner-Segal S., Elcioglu N., Behnam M., Lacerda L., et al.

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, Amerika Birleşik Devletleri, 13 - 17 Şubat 2017, cilt.120, (Özet Bildiri)

16. A novel homozygous IFT122 p I460N c 1379T A mutation inSensenbrenner syndrome a rare disorder within two cousins

AKALIN İ., ELÇİOĞLU H. N., CANDAN C., YILMAZ S., Yücetürk B.

ESHG kongresi, 21 - 24 Mayıs 2016, (Özet Bildiri)

17. RASopaties: two case reports

DEMİRKOL KENDİR Y., Alp Ünkar Z., ÖZDEMİR H., BİLGEN H. S., ELÇİOĞLU H. N.

1st Congress of the European The Young Paediatricians’ Association, İstanbul, Türkiye, 4 - 06 Aralık 2015, (Özet Bildiri)

18. Double aneuploidy: Down – Klinefelter Syndrome

ALP UNKAR Z., KENDİR DEMİRKOL Y., MEMİŞOĞLU A., ELÇİOĞLU H. N., ÖZEK E.

1st Congress Of The European Young Paediatricians’ Association (EURYPA), 4 - 06 Aralık 2015, (Özet Bildiri)

19. RASopaties two case reports

Demirkol Y., Alp Z., BİLGEN H. S., ELÇİOĞLU H. N.

1. EURYPA congress, İstanbul, Türkiye, 4 - 06 Aralık 2015

20. 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

BAYRAM Y., Karaca E., Çoban A. Z., Aydın H., Gezdirici A., TORUN D., et al.

Congress ASHG 2015, 6 - 10 Ekim 2015

21. The Skeletal Changes in Hurler s Syndrome afterBone Marrow Transplantation

ELÇİOĞLU H. N.

12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING, 29 Temmuz - 01 Ağustos 2015

22. CLINICAL AND MOLECULAR STUDY OF A SERIES OF 31 PATIENTS WITH CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS

Ranza E., Huber C., Levin N., Baujat G., ALANAY Y., Al Gazali L., et al.

12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING’, 29 Temmuz - 01 Ağustos 2015, (Özet Bildiri)

23. Mucolipidosis III Gamma Patients

ELÇİOĞLU H. N.

12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING, 29 Temmuz - 01 Ağustos 2015

24. A molecular network surrounding dysregulated H3K9 di methylation in PRDM5 associated disease

Porter L., Gall G., Williamson S., Selley J., Knight D., ELÇİOĞLU H. N., et al.

European Human GeneticsConference 2015, 6 - 09 Haziran 2015, (Özet Bildiri)

25. Spotlight on the pathogenesis of Kabuki syndrome

Bögershausen N., Tsai I., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., Percin F., et al.

European Human GeneticsConference 2015, 6 - 09 Haziran 2015, (Özet Bildiri)

26. Brakio Okülo Fasiyel Sendromlu Bir Olguda Axenfeld Rieger Anomalisi

AKAY TAYFUN G., ELÇİOĞLU H. N., ÇERMAN E., ÖZARSLAN ÖZCAN D., ERASLAN M.

1. MARMARA PEDİATRİ KONGRESİ, Türkiye, 17 - 19 Ocak 2014

27. Brankio Oküler Fasiyel Sendromlu Bir Olguda Göz Bulguları

ÇERMAN E., ÖZARSLAN ÖZCAN D., ERASLAN M., AKKAYA TAYFUN G., ELÇİOĞLU H. N.

47. TÜRK OFTALMOLOJİ DERNEĞİ ULUSAL KONGRESİ, Türkiye, 6 - 10 Kasım 2013

28. Succesful treatment of Pityriasis Lichenoides Chronica with Narrow-Band Ultraviolet B Therapy in a Patient with Keratitis-Ichthyosis-Deafness Syndrome: A Case Report

SALMAN A., SEÇKİN GENÇOSMANOĞLU D., YÜCELTEN A. D., ELÇİOĞLU H. N., RICHARD G., DEMİRKESEN C.

11th European Society for Pediatric Dermatology Congress, 16 - 19 Mayıs 2012

29. Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder

Malfatti E., Martinez V. G., Von der Hagen M., Chabalier D., Quijano-Roy S., David O., et al.

63rd AAN Annual Meeting, Hawaii, Amerika Birleşik Devletleri, 9 - 16 Nisan 2011, cilt.76, (Özet Bildiri)

30. Werner Syndrome and Rothmund-Thomson syndrome: are they some cases with overlapping phenotypes resembling both disease?

Elcioglu N. H., Mansur A. T., Aslan-Kayiran M.

British Human Genetics Conference, York, Sierra Leone, 15 - 17 Eylül 2008, cilt.45, (Özet Bildiri)

31. POMPE DISEASE AND EXPERIENCE WITH PRENATAL DIAGNOSIS

Elcioglu N., Akalin F., van der Luijt R. B.

5th Symposium on Lysosomal Storage Disorders, Paris, Fransa, 10 - 12 Nisan 2008, cilt.30, (Özet Bildiri)

32. SEPN-related myopathy: an emerging entity phenotypical and molecular analysis of 80 cases

Gonzalez V., Quijano-Roy S., Parain K., Bonnemann C., Bushby K., Castiglioni C., et al.

10th International Congress of the World-Muscle-Society, Iguassu Falls, Brezilya, 28 Eylül - 10 Ekim 2005, cilt.15, ss.715, (Özet Bildiri)

33. Spondylothoracic dysplasia (Jarcho-Levin syndrome) and Spondylocostal dysostosis, the confusing vertebral malsegmentation syndromes. Report of six cases

Semic A., Elcioglu N., Yalcin S., Biren T.

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.113, (Özet Bildiri)

Metrikler

Yayın

194

Yayın (WoS)

154

Yayın (Scopus)

149

H-İndeks (WoS)

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5671

H-İndeks (Scopus)

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H-İndeks (Scholar)

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