Uzman Dr. Umut ALTUNOĞLU

Yayın Ağı

Makaleler 49

1. **Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies**

Karaman V., Aslanger A. D., Saraç Sivrikoz T., Yildirim B. T., Avci S., Altunoglu U., et al.

PRENATAL DIAGNOSIS , cilt.46, sa.3, ss.438-447, 2026 (SCI-Expanded, Scopus)

2. Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye

ASLANGER A. D., GÜLEÇ Ç., KALAYCI T., Sengenc E., Avci S., Altunoglu U., et al.

MEDICAL JOURNAL OF BAKIRKOY , cilt.19, sa.2, ss.222-228, 2023 (ESCI, Scopus)

3. The first case of Dyssegmental Dysplasia Rolland-Desbuquois type with a variant in HSPG2

KALAYCI T., Balanda N., Ferreira C. R., Altunoglu U.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.237, 2020 (SCI-Expanded)

4. Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype

Yildirim Z. N., Toksoy G., Uyguner O., Nayir A., Yavuz S., Altunoglu U., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.63, sa.1, 2020 (SCI-Expanded, Scopus)

5. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Palencia-Campos A., Martinez-Fernandez M., Altunoglu U., Soto-Bielicka P., Torres A., Marin P., et al.

HUMAN MUTATION , cilt.41, sa.1, ss.265-276, 2020 (SCI-Expanded, Scopus)

6. Genetic Evaluation of Idiopathic Short Stature

Karaman B., Bas F., Najafli A., Avci S., Al A. D. K., Toksoy G., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.323, 2019 (SCI-Expanded, Scopus)

7. Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development

Poyrazoglu S., Toksoy G., Aghayev A., Karaman B., Avci S., Altunoglu U., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.193, 2019 (SCI-Expanded, Scopus)

8. The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

Ozturk A. P., Altunoglu U., Ozturan E. K., Toksoy G., Poyrazoglu S., Bas F., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.452, 2019 (SCI-Expanded, Scopus)

9. MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES

Karaman V., Toksoy G., Karaman B., Kayserili Karabey H., Basaran S., Altunoglu U., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.82, sa.2, ss.116-122, 2019 (ESCI, TRDizin)

10. SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ

Karaman V., TOKSOY G., KARAMAN B., KAYSERİLİ KARABEY H., BAŞARAN S., ALTUNOĞLU U., et al.

İSTANBUL TIP FAKÜLTESİ DERGİSİ , cilt.82, sa.2, ss.9-10, 2019 (TRDizin)

11. FETAL BRAIN SHRINKAGE: A RARE, MYSTIFYING ANOMALY

Turkyilmaz G., Avci S., Altunoglu U., Erturk E., Canturk M., Sivrikoz T., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.82, sa.2, ss.123-126, 2019 (ESCI, TRDizin)

12. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Schrauwen I., Valgaeren H., Tomas-Roca L., Sommen M., Altunoglu U., Wesdorp M., et al.

GENETICS IN MEDICINE , cilt.21, sa.5, ss.1199-1208, 2019 (SCI-Expanded, Scopus)

13. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Rad A., Rad A., Altunoglu U., Altunoglu U., Miller R., Miller R., et al.

JOURNAL OF MEDICAL GENETICS , cilt.56, sa.5, ss.332-339, 2019 (SCI-Expanded, Scopus)

14. Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Turkyilmaz G., Avci S., Sivrikoz T., Erturk E., Altunoglu U., Turkyilmazlmaz S. E., et al.

Fetal and pediatric pathology , cilt.38, sa.2, ss.127-137, 2019 (SCI-Expanded, Scopus)

15. Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.

Güven Y., Bal E., Altunoglu U., Yücel E., Hadj-Rabıa S., Koruyucu M., et al.

Cytogenetic and genome research , cilt.157, ss.189-196, 2019 (SCI-Expanded, Scopus)

16. Manufacture of custom-made spectacles using three-dimensional printing technology

Altinkurt E., Ceylan N., Altunoglu U., Turgut G. T.

Clinical and Experimental Optometry , 2019 (SCI-Expanded, Scopus)

17. 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, Scopus)

18. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.

Baş F., Toksoy G., Ergun-Longmire B., Uyguner Z. O., Abalı Z., Poyrazoğlu Ş., et al.

The Journal of steroid biochemistry and molecular biology , cilt.181, ss.88-97, 2018 (SCI-Expanded, Scopus)

19. Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

Poyrazoglu S., Aghayev A., Toksoy G., Karaman B., Avci S., Kardelen A. A. D., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.558-559, 2018 (SCI-Expanded, Scopus)

20. Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience

Aghayev A., Toksoy G., Poyrazoglu S., Karaman B., Avci S., Yildiz M., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.542, 2018 (SCI-Expanded, Scopus)

21. PROKR2 Mutations in Patients With Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Najafli A., Bas F., Karaman B., Kardelen Al A. D., Toksoy G., Poyrazoglu S., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.500, 2018 (SCI-Expanded, Scopus)

22. Osteoporosis-Pseudoglioma Syndrome (OPPG): Improvement of Osteoporosis on Biphosphonate Therapy

Ozturan E. K., Altunoglu U., Kardelen A. D., Abali Z. Y., Avci S., Karabey H. K., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.181-182, 2018 (SCI-Expanded, Scopus)

23. Clinical, Laboratory and Molecular Genetic Findings of Patients with 17 beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Poyrazoglu S., Toksoy G., Aghayev A., Karaman B., Avci S., Altunoglu U., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.562, 2018 (SCI-Expanded, Scopus)

24. PRENATAL DIAGNOSIS OF ISOLATED SPLIT HAND/FOOT MALFORMATION

Turkyilmaz G., Avci S., Erturk E., Sarac Sivrikoz T., Altunoglu U., Kalelioglu I., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.81, sa.1, ss.37-41, 2018 (ESCI, TRDizin)

25. CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS

Avci S., Toksoy G., Bagirova G., Altunoglu U., Karaman B., Basaran S., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.81, sa.4, ss.127-138, 2018 (ESCI, TRDizin)

26. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Lehalle D., Altunoglu U., Bruel A., Arnaud E., Blanchet P., Choi J., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.173, sa.12, ss.3136-3142, 2017 (SCI-Expanded, Scopus)

27. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Windpassinger C., Piard J., Bonnard C., Alfadhel M., Lim S., Bisteau X., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.101, sa.3, ss.391-403, 2017 (SCI-Expanded, Scopus)

28. PRIMARY COENZYME Q10 DEFICIENCY-6 (COQ10D6): CASE REPORT

Yildirim Z. Y., Nayir A., Uyguner O., Toksoy G., Yavuz S., Altunoglu U., et al.

PEDIATRIC NEPHROLOGY , cilt.32, sa.9, ss.1763, 2017 (SCI-Expanded, Scopus)

29. The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients

Karaman B., Kayserili H., Najafli A., Altunoglu U., Kumbasar G., Avci S., et al.

MOLECULAR CYTOGENETICS , cilt.10, 2017 (SCI-Expanded, Scopus)

30. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Rosti R. O., Sotak B. N., Bielas S. L., Bhat G., Silhavy J. L., Aslanger A. D., et al.

JOURNAL OF MEDICAL GENETICS , cilt.54, sa.6, ss.399-403, 2017 (SCI-Expanded, Scopus)

31. Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

Dinçsoy B., DINÇKAN N., GÜVEN Y., BAŞ F., ALTUNOĞLU U., KUVVETLI S., et al.

European journal of medical genetics , cilt.60, ss.163-168, 2017 (SCI-Expanded, Scopus)

32. Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli R. M., Schaffer A. E., Eggens V. R. C., Zaki M. S., Grainger S., Sathe S., et al.

NATURE GENETICS , cilt.49, sa.3, ss.457-464, 2017 (SCI-Expanded, Scopus)

33. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Acuna-Hidalgo R., Deriziotis P., Steehouwer M., Gilissen C., Graham S. A., van Dam S., et al.

PLOS GENETICS , cilt.13, sa.3, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

34. An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity

Boegershausen N., Altunoglu U., Beleggia F., Yigit G., Kayserili H., Nuernberg P., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.170, sa.12, ss.3282-3288, 2016 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

35. Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Koçak E., ALTUNOĞLU U., Toksoy G., KAYSERILI H.

Clinical dysmorphology , cilt.25, ss.192-4, 2016 (SCI-Expanded, Scopus)

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

BÖGERSHAUSEN N., GATINOIS V., RIEHMER V., KAYSERILI H., BECKER J., THOENES M., et al.

Human mutation , cilt.37, ss.847-64, 2016 (SCI-Expanded)

37. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

ROOSING S., ROMANI M., ISRIE M., ROSTI R. Ö., MICALIZZI A., MUSAEV D., et al.

Journal of medical genetics , cilt.53, ss.608-15, 2016 (SCI-Expanded)

38. Genotypic and phenotypic presentation of TTR-FAP in Turkey

Durmus H., ÇAKAR A., Atmaca M. M., Matur Z., Altunoglu U., PODA M., et al.

EUROPEAN JOURNAL OF NEUROLOGY , cilt.23, ss.341, 2016 (SCI-Expanded, Scopus)

39. ALX4 related parietal foramina mimicking encephalocele in prenatal period.

Saraç S., Altunoglu U., KALELIOGLU İ. H., YÜKSEL A., UYGUNER O., HAS R., et al.

Prenatal diagnosis , cilt.36, ss.591-3, 2016 (SCI-Expanded, Scopus)

40. Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients

Kayserili H., Kayserili H., Altunoglu U., Altunoglu U., YEŞİL G., Yesil G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.170, sa.6, ss.1391-1399, 2016 (SCI-Expanded)

41. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

OUD M., BONNARD C., MANS D., Altunoglu U., TOHARI S., Ng A., et al.

Cilia , cilt.5, ss.8, 2016 (Scopus)

42. The 3M Syndrome: A Cause of Pre- and Post-Natal Severe Growth Retardation

Genens M., Altunoglu U., Bas F., Poyrazoglu S., Abali Z. Y., Bundak R., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.86, ss.465-466, 2016 (SCI-Expanded, Scopus)

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

ATIK T., KOPARIR A., BADEMCI G., FOSTER J. 2., Altunoglu U., MUTLU G., et al.

Orphanet journal of rare diseases , cilt.10, ss.128, 2015 (SCI-Expanded, Scopus)

44. Mutations in CDK5RAP2 cause Seckel syndrome.

YIGIT G., BROWN K., KAYSERILI H., POHL E., CALIEBE A., ZAHNLEITER D., et al.

Molecular genetics & genomic medicine , cilt.3, ss.467-80, 2015 (SCI-Expanded, Scopus)

45. De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

TOMAS-ROCA L., TSAALBI-SHTYLIK A., JANSEN J., SINGH M., EPSTEIN J., Altunoglu U., et al.

Nature communications , cilt.6, ss.7199, 2015 (SCI-Expanded, Scopus)

46. A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.

UZUNHAN T., Altunoğlu U., YıLDıZ E., AYDıNLı N.

Journal of pediatric neurosciences , cilt.9, ss.290-1, 2014 (ESCI, Scopus)

47. Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

SCHANZE D., KAYSERILI H., SATKıN B., Altunoglu U., ZENKER M.

American journal of medical genetics. Part A , ss.837-40, 2014 (SCI-Expanded, Scopus)

48. Mutations in WNT1 cause different forms of bone fragility.

KEUPP K., BELEGGIA F., KAYSERILI H., BARNES A., STEINER M., SEMLER O., et al.

American journal of human genetics , cilt.92, ss.565-74, 2013 (SCI-Expanded)

49. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

ROSCIOLI T., KAMSTEEG E., BUYSSE K., MAYSTADT I., van R., van d., et al.

Nature genetics , cilt.44, ss.581-5, 2012 (SCI-Expanded)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 10

1. Characterization of a novel human phenotype with cortical malformations and congenital anomalies linked to PHF3

KALAYCI T., Sivrikoz T. S., Altunoglu U., KARAMAN B.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.362, (Özet Bildiri)

2. Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

Çilsaat G., Toksoy G., Baş F., Karaman B., Poyrazoğlu Ş., Uyguner Z. O., et al.

58 th Annual Meeting European Society for Paediatric Endocrinology (ESPE), Vienna, Avusturya, 20 - 22 Eylül 2019, cilt.1, sa.1, ss.282, (Özet Bildiri) Sürdürülebilir Kalkınma

3. Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development

Poyrazoğlu Ş., TOKSOY G., Aghayev A., KARAMAN B., Şahin A., ALTUNOĞLU U., et al.

European Society for Paediatric Endocrinology (ESPE), Basel, İsviçre, 20 - 22 Eylül 2019, ss.193, (Tam Metin Bildiri)

4. Genetic Evaluation of Idiopathic Short Stature

KARAMAN B., BAŞ F., Najaflı A., Avcı Ş., Kardelen A. D., Toksoy G., et al.

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, 6 - 08 Eylül 2019, (Özet Bildiri)

5. Copy-Number Variations of the Human Olfactory Receptor Gene Familyin Patients with Macromastia and Prepubertal Gynecomastia

BAŞ F., KARAMAN B., UYGUNER Z. O., BAŞARAN S., POYRAZOĞLU Ş., DARENDELİLER F. F., et al.

57. ESPE 2018, 27 - 29 Eylül 2018, (Tam Metin Bildiri)

6. Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

POYRAZOĞLU Ş., KARAMAN B., BAŞ F., Darendeliler F., TOKSOY G., BAŞARAN S., et al.

57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Yunanistan, 27 - 29 Eylül 2018, ss.558, (Tam Metin Bildiri)

7. PrimerKoenzim Q10 eksikliği-6 (COQ10D6), Olgu Sunumu

YÜRÜK YILDIRIM Z. N., NAYIR A. N., UYGUNER Z. O., TOKSOY G., YAVUZ S., ALTUNOĞLU U., et al.

4. Çocuk Nefroloji Olgu Panayırı, Türkiye, 3 - 04 Kasım 2017, (Özet Bildiri)

8. Loss of function mutations in Carboxypeptidase D cause a new syndrome with recognizable dysmorphisms, lymphedema and sensorineural hearing loss.

ALTUNOĞLU U.

17TH MANCHESTER DYSMORPHOLOGY CONFERENCE, Manchester, Birleşik Krallık, 7 - 11 Kasım 2016, ss.1, (Özet Bildiri)

9. Step by Step, Formation of Complex Chromosomal Rearrangements

Satkın B. N., KARAMAN B., Yılmaz K., Altunoğlu U., BAŞARAN S.

European Human Genetic Congress, Almanya, ss.110, (Tam Metin Bildiri)

10. Girl with left hemiatrophy reveals confined mosaicisms for r(13)in fibroblasts

Altunoğlu U., KARAMAN B., BAŞARAN S., KAYSERİLİ H.

European Human Genetic Congress, Avusturya, ss.125, (Tam Metin Bildiri)

Kitaplar 1

1. Tıbbi Genetikte Semiyoloji

ALTUNOĞLU U.

Pediatrik Semiyoloji, Oğuz F., Editör, İstanbul Tıp Kitabevi, İstanbul, ss.321-348, 2016

Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

653

H-İndeks (WoS)

Atıf (Scopus)

731

H-İndeks (Scopus)

Atıf (Scholar)

119

H-İndeks (Scholar)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

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