Prof. Hülya KAYSERİLİ KARABEY

Metrics

Publication

Publication (WoS)

Publication (Scopus)

Citation (WoS)

2832

H-Index (WoS)

Citation (Scopus)

2911

H-Index (Scopus)

Citation (Scholar)

H-Index (Scholar)

Project

UN Sustainable Development Goals

Education

1991 - 1998

Doctorate

Istanbul University, Sağlık Bilimleri Enstitüsü/ Çocuk Sağlığı Enstitüsü , Genetik Anabilim Dalı , Turkey

1978 - 1984

Undergraduate

Istanbul University, Istanbul Medical Faculty, Tıp, Turkey

Research Areas

Life Sciences

Molecular Biology and Genetics

Genetic Disorders

Genomics

Natural Sciences

Academic Positions

2009 - Present

Professor

Istanbul University, Istanbul Medical Faculty, Tıbbi Genetik Ad

2000 - Present

Associate Professor

Istanbul University, Istanbul Medical Faculty, Dahili Bilimler

Articles

2019

1. 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 , vol.82, no.2, pp.9-10, 2019 (Peer-Reviewed Journal)

2014

2. Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

NUR B., Pehlivanoglu S., MIHÇI E., Caliskan M., Demir D., ALPER Ö., et al.

PEDIATRIC NEUROLOGY , vol.50, no.5, pp.482-490, 2014 (SCI-Expanded)

2014

3. Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

Guven Y., Altunoglu U., Aktoren O., Uyguner Z. O., Kayserili H., Kaewkahya M., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.57, no.5, pp.240-246, 2014 (SCI-Expanded)

2014

4. A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome

Czeschik J. C., Albrecht B., Kayserili H., Kuechler A., Wagner N., Wieczorek D., et al.

CLINICAL DYSMORPHOLOGY , vol.23, no.2, pp.67-70, 2014 (SCI-Expanded)

2014

5. Newly Described Clinical Features in Two Siblings With MACS Syndrome and a Novel Mutation in RIN2

Aslanger A. D., Altunoglu U., Aslanger E., Satkin B. N., Uyguner Z. O., Kayserili H.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.164, no.2, pp.484-489, 2014 (SCI-Expanded)

2014

6. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino G., Fenstermaker A. G., Zaki M. S., Hofree M., Silhavy J. L., Heiberg A. D., et al.

SCIENCE , vol.343, no.6170, pp.506-511, 2014 (SCI-Expanded)

2014

7. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Murray J. E., Bicknell L. S., Yigit G., Duker A. L., van Kogelenberg M., Haghayegh S., et al.

HUMAN MUTATION , vol.35, no.1, pp.76-85, 2014 (SCI-Expanded)

2014

8. The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau P. M., Kasperaviciute D., Lu J. T., Burrage L. C., Kim C., Hori M., et al.

LANCET NEUROLOGY , vol.13, no.1, pp.44-58, 2014 (SCI-Expanded)

2013

9. 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 , vol.22, no.25, pp.5121-5135, 2013 (SCI-Expanded)

2013

10. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter J., Bizet A. A., Schmidts M., Porath J. D., Braun D. A., Gee H. Y., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.93, no.5, pp.915-925, 2013 (SCI-Expanded)

2013

11. Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Dimopoulou A., Fischer B., Gardeitchik T., Schroeter P., Kayserili H., Schlack C., et al.

MOLECULAR GENETICS AND METABOLISM , vol.110, no.3, pp.352-361, 2013 (SCI-Expanded)

2013

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

Iida A., Iida A., Simsek-Kiper P. O., Simsek-Kiper P. O., Mizumoto S., Mizumoto S., et al.

HUMAN MUTATION , vol.34, no.10, pp.1381-1386, 2013 (SCI-Expanded)

2013

13. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Symoens S., Malfait F., D'hondt S., Callewaert B., Dheedene A., Steyaert W., et al.

ORPHANET JOURNAL OF RARE DISEASES , vol.8, 2013 (SCI-Expanded)

2013

14. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Czeschik J. C., Voigt C., ALANAY Y., Albrecht B., Avci S., FitzPatrick D., et al.

HUMAN GENETICS , vol.132, no.8, pp.885-898, 2013 (SCI-Expanded)

2013

15. 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 , vol.92, pp.565-74, 2013 (SCI-Expanded)

2012

16. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino G., El-Fishawy P., Kayserili H., Meguid N. A., Scott E. M., Schroth J., et al.

SCIENCE , vol.338, no.6105, pp.394-397, 2012 (SCI-Expanded)

2012

17. Down Syndrome Diagnosis Based on Gabor Wavelet Transform

Saraydemir S., TAŞPINAR N., Erogul O., Kayserili H., Dinckan N.

JOURNAL OF MEDICAL SYSTEMS , vol.36, no.5, pp.3205-3213, 2012 (SCI-Expanded)

2012

18. A large duplication involving the IHH locus mimics acrocallosal syndrome

Yuksel-Apak M., Boegershausen N., Pawlik B., Li Y., Apak S., Uyguner O., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.20, no.6, pp.639-644, 2012 (SCI-Expanded)

2009

19. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder V., Morava E., Kornak U., Lefeber D. J., Fischer B., Dimopoulou A., et al.

HUMAN MOLECULAR GENETICS , vol.18, no.12, pp.2149-2165, 2009 (SCI-Expanded)

2009

20. Türk Noonan Sendromlu Hastalarda Genotip Fenotip İlişkisi

Altunoğlu U., Denmeyer E., Rosti R. Ö., KARAMAN B., KAYSERİLİ H.

TÜRKİYE KLİNİKLERİ PEDİATRİ DERGİSİ , vol.18, no.3, pp.174-80, 2009 (Scopus)

2008

21. Mandibuloakral displazi: Vaka sunumu ve laminopatilere genel bakış

Pehlivan D., BAŞ F., Rosti R. Ö., DARENDELİLER F. F., KAYSERİLİ H.

ÇOCUK DERGİSİ , vol.8, no.4, pp.251-256, 2008 (Peer-Reviewed Journal)

2008

22. Angelman syndrome: clinical findings and follow-up data of 14 patients

Kara B., Karaman B., Ozmen M., Rosti R. O., Caliskan M., Kayserili H., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.50, no.2, pp.137-142, 2008 (SCI-Expanded)

2008

23. CYP21 gene mutations in congenital adrenal hyperplasia: Genotype-phenotype correlation in Turkish children

Bas F., Darendeliler F. F., Kayserili H., Uyguner O., Wollnik B., Saka N., et al.

HORMONE RESEARCH , vol.70, pp.156-157, 2008 (SCI-Expanded)

2007

24. Frajil-X Sendromu Tanısında 20 Yıllık Süreçteki Gelişmeler ve Deneyimlerimiz

KAYSERİLİ H., Tükel T., KARAMAN B., UYGUNER Z. O., Rosti R. Ö., Açarsöz D., et al.

Çocuk Kliniği ANADOLU KARDIYOLOJI DERGISI-THE ANATOLIAN JOURNAL OF CARDIOLOGY , vol.7, pp.18-22, 2007 (Peer-Reviewed Journal)

2007

25. Down Sendromlu 1416 Postnatal Olgunun Kromozom Analiz Sonuçları

KARAMAN B., Öztürk H., Yılmaz K., BAŞARAN S., KAYSERİLİ H., Yüksel Apak M.

Çocuk Kliniği Dergisi , vol.7, pp.15-17, 2007 (Peer-Reviewed Journal)

2007

26. Gebelikte trizomi 21 ve 18 için biokimyasal tarama testleri

BAŞARAN S., KARAMAN B., Öztürk H., Yılmaz K., Tükel T., KAYSERİLİ H., et al.

Çocuk Kliniği Dergisi , vol.7, pp.10-14, 2007 (Peer-Reviewed Journal)

2005

27. 18q deletion syndrome associated with autoimmune thyroid disease presenting as hyperthyroidism

Tütüncüler F., Darendeliler F. F., Günöz H., Karaman B., Kayserili H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.18, no.4, pp.419-420, 2005 (SCI-Expanded)

2004

28. Gender assignment in female congenital adrenal hyperplasia: a difficult experience

Ozbey H., Darendeliler F. F., Kayserili H., Korkmazlar U., Salman T.

BJU INTERNATIONAL , vol.94, no.3, pp.388-391, 2004 (SCI-Expanded)

2000

29. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., et al.

CELL , vol.102, no.5, pp.565-575, 2000 (SCI-Expanded)

2000

30. 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 , vol.25, no.4, pp.423-426, 2000 (SCI-Expanded)

2000

31. Kuşkulu genitalyalı 103 hastanın etyoloji, tanı ve cinsel kimlik açısından değerlendirilmesi

DARENDELİLER F. F., BAŞ F., Saka H. N., KAYSERİLİ H., Apak M., Karaaslan N., et al.

KLİNİK GELİŞİM , vol.13, pp.109-114, 2000 (Peer-Reviewed Journal)

2000

32. Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

Nuytinck L., Tukel T., Kayserili H., Apak M., De Paepe A.

JOURNAL OF MEDICAL GENETICS , vol.37, no.5, pp.371-375, 2000 (SCI-Expanded)

2000

33. Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients

Savas S., Gokgoz N., Kayserili H., Ozkinay F., Yuksel-Apak M., Kirdar B.

HUMAN HEREDITY , vol.50, no.3, pp.162-165, 2000 (SCI-Expanded)

2000

34. A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient

Tadmouri G., Bilenoglu O., Kantarci S., Kayserili H., Perrin P., Basak A.

AMERICAN JOURNAL OF HEMATOLOGY , vol.63, no.4, pp.223-225, 2000 (SCI-Expanded)

1999

35. 17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations

Boehmer A., Brinkmann A., Sandkuijl L., Halley D., Niermeijer M., Andersson S., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , vol.84, no.12, pp.4713-4721, 1999 (SCI-Expanded)

1999

36. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

ERASLAN S., Kayserili H., Apak M., KIRDAR B.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.7, no.7, pp.765-770, 1999 (SCI-Expanded)

1999

37. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Van Kuilenburg A., Vreken P., Abeling N., Bakker H., Meinsma R., Van Lenthe H., et al.

HUMAN GENETICS , vol.104, no.1, pp.1-9, 1999 (SCI-Expanded)

1999

38. Genetik Hastalıkların Prenatal Tanısı, 1995–1997 yıllarındaki uygulama ve araştırmalarımızın sonuçları

Yüksel Apak M., BAŞARAN S., Aydınlı K., KAYSERİLİ H., KARAMAN B., Açarsöz D., et al.

İst. Tıp Fakültesi Mecmuası , vol.62, no.4, pp.354-362, 1999 (Peer-Reviewed Journal)

1998

39. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

Dutly F., Baumer A., Kayserili H., Yuksel-Apak M., Zerova T., Hebisch G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS , vol.79, no.5, pp.347-353, 1998 (SCI-Expanded)

1998

40. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

ONAY T., TOPALOĞLU Ö., ZIELENSKI J., GÖKGÖZ N., Kayserili H., Camcioglu Y., et al.

HUMAN GENETICS , vol.102, no.2, pp.224-230, 1998 (SCI-Expanded)

1995

41. Duchenne Kas Distrofisi İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı Uygulamalarında Karşılaşılan Sorunlar

KAYSERİLİ H., Açarsöz D., Gökgöz N., BAŞARAN S., KARAMAN B., Kırdar B., et al.

İstanbul Çocuk Kliniği Dergisi , vol.30, pp.200-206, 1995 (Peer-Reviewed Journal)

Papers Presented at Peer-Reviewed Scientific Conferences

2017

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

KARAMAN B., NAJAFLı A., Toksoy G., KAYSERİLİ KARABEY H., BAŞARAN S.

European Cytogenetic Conference, Floransa, Italy, 29 June - 02 July 2017, pp.8, (Full Text)

2013

2. Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype

Toksoy G., Satkın B. N., KAYSERİLİ H., KARAMAN B., BAŞARAN S.

European Cytogenetic Conference, Ireland, 1 - 04 June 2013, pp.69, (Full Text)

2013

3. Molecular Test Results of Syndromic Craniosynostosis Patients:genotype-phenotype correlations

Karaman V., Altunoğlu U., Toksoy G., KARAMAN B., KAYSERİLİ H., UYGUNER Z. O.

European Human Genetic Congress, France, 1 - 04 June 2013, pp.99, (Full Text)

4. Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases

KARAMAN B., Satkın B. N., KAYSERİLİ H., BAŞARAN S.

European Cytogenetic Conference, Ireland, pp.122, (Full Text)

2012

5. A novel molecular and functional mechanism predisposing to ototoxicity

KAYSERİLİ H.

American Society of Human Genetics 62nd Annual Meeting, United States Of America, 1 - 04 October 2012, pp.10-15, (Full Text)

2012

6. Konjenital Eritropoietik Porfiride Eritrodonti:Bir Olgu Raporu

AKTÖREN O., KAYSERİLİ H., GÜVEN Y.

19.Türk Pedodonti Derneği Kongresi, Antalya, Turkey, 1 - 04 October 2012, pp.163, (Summary Text)

2012

7. Next generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan

KAYSERİLİ H.

American Society of Human Genetics 62nd Annual Meeting, United States Of America, 1 - 04 October 2012, pp.48-9

2012

8. DYNC2H1 mutations are commonly found in Juene Asphyxating Thoracic Dyspilasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement

KAYSERİLİ H.

American Society of Human Genetics 62nd Annual Meeting, United States Of America, 1 - 04 October 2012, pp.23-24

2012

9. Continuun from monogenic to polygenic and multifactorial disease

KAYSERİLİ H.

P4 Predictive Preventive Personalized Participatory Mediicine Meeting, Turkey, 1 - 04 September 2012, pp.3-6, (Full Text)

2012

10. Further molevular characterization of PYCR1-related cutis laxa

KAYSERİLİ H.

European Human Genetics Conferance, Germany, 1 - 04 June 2012, pp.60-61, (Full Text)

2012

11. Increased sensitivity to DNA damage in a recessive form of Weawer syndrome caused by functional loss of an E3 ubiquitin ligase

KAYSERİLİ H.

European Human genetics Conference 2012, Germany, 1 - 04 June 2012, pp.3-5, (Full Text)

2012

12. Mutation in RIPK4 that encodes Receptor-Interacting Serine/Threonine Kinase Protein 4 couse the autosomal recessive form of popliteal ptertgium syndrome

KAYSERİLİ H.

European Human Genetics Conferance, Germany, 1 - 04 June 2012, pp.45-46, (Full Text)

2012

13. Novel c.1731delC mutation in RIN2 gene in two Turkish siblings with MACS/RIN2 syndrome

KAYSERİLİ H.

European Human Genetics Conference, Germany, 1 - 04 June 2012, pp.57-58, (Full Text)

2012

14. Indications for Fetal Karyotyping and Ultrasonographic Findings in Common Trisomies; Alterations in over 2 Decades

Başaran S., Karaman B., Aytan M., Toksoy G., Kalelioğlu İ. H., Has R., et al.

European Human Genetics Congress 2012, Nuremberg, Germany, 23 - 26 June 2012, pp.147-148, (Summary Text)

15. Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally

KARAMAN B., Satkın B. N., Kalelioğlu İ. H., HAS R., KAYSERİLİ H., Ermiş H., et al.

European Human Genetic Congress, Germany, pp.148-149, (Full Text)

2012

16. The Efficiency Of Multiplex Ligation-Dependent Probe AmplificationTechnique In The Diagnosis Of Fetal Chromosomal Abnormalities

Toksoy G., Karaman B., Uyguner Z. O., Yılmaz K., Has R., Kayserili H., et al.

European Human Genetics Conference 2012, Nuremberg, Germany, 23 - 26 June 2012, pp.150, (Summary Text)

17. Array-CGH results in fetuses with central nervous system

Ergin S., KARAMAN B., Satkın B. N., Kalelioğlu İ. H., KAYSERİLİ H., YÜKSEL A., et al.

European Human Genetic Congress, Germany, pp.144, (Full Text)

2010

18. How toapproach lissencephaly/subcortical band heterotopia spectrum.

Aslanger A. D., Toksoy G., Kayserili Karabey H., Karaman B., Başaran S., Uyguner Z. O.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, vol.78, pp.13, (Full Text)

19. CLINICAL AND ULTRASONOGRAPHIC FINDINGS OF FETUSES WITH TRISOMY 21, 18 AND 13 CASES DIAGNOSED PRENATALLY IN AMNIOTIC FLUID SAMPLES. FROM JANUARY 1989 TO JULY 2010, 142 TRISOMY 21, 39 TRISOMY 18, 12 TRISOMY 13 CASES WERE DIAGNOSED IN AMNIOTIC FLUID SAMPLES

Satkın B. N., Kalelioğlu İ. H., KARAMAN B., HAS R., KAYSERİLİ H., Aydınlı K., et al.

Tıbbi Genetik Kongresi, İstanbul, Turkey, pp.104-105, (Full Text)

2010

20. Novel P.D419Y Mutation in SH3P2 Gene Cause Cherubism in a Turkish Family.

AKTÖREN O., KAYSERİLİ H., GÜVEN Y.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 04 December 2010, pp.18-19, (Summary Text)

2010

21. A novel molecular and functional mechanism predisposing to ototoxicity

Pohl E., Offenhauser N., Kersten F., Üzümcü A., Yun L., KAYSERİLİ H., et al.

European Human Genetic Congress, Germany, 1 - 04 May 2010, pp.5, (Full Text)

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

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

European Human Genetic Congress, Austria, pp.125, (Full Text)

23. Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation

Güven G., KAYSERİLİ H., Üzümcü A., Eriş H., KARAMAN B., BAŞARAN S., et al.

European Human Genetics, Spain, pp.271, (Full Text)

2007

24. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Semerci C. N., Tufan Şatıroğlu L., Bereket A., TÜYSÜZ B., Yılmaz E., KAYSERİLİ H., et al.

European Cytogenetic Conference, Turkey, 1 - 04 July 2007, pp.125, (Full Text)

25. Dicentric chromosome 22 causing partial trisomy of 22q10Yq13 in a child with Cat Eye syndrome phenotype

Demir Z., KARAMAN B., KAYSERİLİ H., Yüksel Apak M., BAŞARAN S.

European Cytogenetic Conference, Turkey, pp.61, (Full Text)

26. A case of monosomy 8p23.3Yter and trisomy 16p13.3Yter; cytogenetic, molecular cytogenetic and clinical findings

Candan Ş., KARAMAN B., KAYSERİLİ H., Kırmızı N., BAŞARAN S.

European Cytogenetic Conference, Turkey, pp.96, (Full Text)

27. Orodental findings of lacrimo-auriculo-dento-digital(LADD) syndrome

GÜVEN Y., Rosti R. Ö., TUNA İNCE E. B., KAYSERİLİ H., AKTÖREN O.

12th. Congress of the Balkan Stomatological Society (BASS), Turkey, pp.143-144, (Full Text)

2007

28. Identification of parental origins and delineation of structural abnormalities involving chromosome 9

Uzumcu A., Ghanbari A., Karaman B., Uyguner Z. O., Kayserili H., Wollnik B., et al.

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.261, (Summary Text)

2007

29. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Semerci C. N., Satiroglu-Tufan N. L., Turan S., Bereket A., Tuysuz B., Yilmaz E., et al.

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.125-126, (Summary Text)

2004

30. Notch3 mutations in two Turkish families with CADASIL syndrome

SİVA A., Altintas A., SAİP S., UYGUNER Z. O., Kayserili H., Eskazan E., et al.

56th Annual Meeting of the American-Academy-of-Neurology, San-Francisco, Costa Rica, 24 April - 01 May 2004, vol.62, (Summary Text)

31. Cockayne Sendromu: 2 Olgu Bildirimi

PINAR ERDEM A., ÜSTÜN A., SEPET E., KAYSERİLİ H.

Türk Pedodonti Derneği 13. Ulusal Kongresi, Muğla, Turkey, pp.29, (Full Text)

Books

2014

1. Tıbbi Genetik

KAYSERİLİ H., BAŞARAN S., KARAMAN B., UYGUNER Z. O.

in: Pediatride Rutinler, ömer devecioğlu, Editor, İstanbul Tıp Kitabevi, İstanbul, pp.300-305, 2014

2012

2. Konjenital Adrenal Hiperplazi; Moleküler Tanı, Fenotip/Genotip Korelasyonu ve Antenatal İzlem Deneyimlerimiz (1990-2009).

Kayserili H., Uyguner Z. O., Karaman B., Başaran S.

in: Endokrinoloji Diyabet Yıllığı, Yarman S,Alagöl F., Editor, İstanbul Tıp Fakültesi, İstanbul, pp.103-113, 2012

2009

3. Ekstremite Anomalileri

KALELİOĞLU İ. H., YAŞA C., KAYSERİLİ KARABEY H.

in: Obstetrik ve Jinekolojide Ultrason, Özden S, Editor, Doğan Tıb Kitabevi, İstanbul, pp.336-358, 2009

Funded Projects

2017 - 2017

The Application of array CGH for Monogenic Disorders Clinical and Molecular Cytogenetic Characterizations of Twenty Patients

Project Supported by Higher Education Institutions , BAP Other

KARAMAN B. (Executive), BAŞARAN S., UYGUNER Z. O., ALTUNOĞLU U., AVCI Ş., TOKSOY G., et al.

2014 - 2016

NON-SENDROMİK DİŞ AGENEZİSİ İLE İLİŞKİLİ YENİ GENLERİN VE SİNYAL YOLAKLARININ YENİ NESİL DİZİLEME TEKNOLOJİLERİ İLE ARAŞTIRILMASI

Project Supported by Higher Education Institutions , BAP PhD

UYGUNER Z. O. (Executive), KAYSERİLİ KARABEY H.

2014 - 2014

Hamamy sendromlu üç yeni olgu; klinik ve mutasyon spektrumunun genişletilmesi

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2011 - 2014

Non-Spesifik Mental Retardasyonlu Olgularda submikroskobik Mikrodelesyon/Mikroduplikasyonların Array Teknolojisi ile Araştırılması

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2013 - 2013

Endoplazmik Retikulum (ER) stres transdüksiyonu OASIS'i kodlayan CREB3L1'in yokluğu otozomal resesif kalıtılan ağır osteogenezis imperfektaya neden olmaktdır.

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2010 - 2013

Frontonazal dizostozlu olgularda klinik sınıflandırma ve nörokristopati ile ilişkilendirilmiş genlerin araştırılması

Project Supported by Higher Education Institutions , BAP PhD

KAYSERİLİ KARABEY H. (Executive)

2012 - 2012

MACS /RIN2 sendromlu iki Türk kardeşte yeni mutasyon tanımlanması

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2011 - 2012

DOĞUMSAL AĞIZ-ÇENE MALFORMASYONLARININ SINIFLANDIRILMASI, GENETİK SENDROMLARLA İLİŞKİLENDİRİLMESİ VE ETYOPATOGENEZİ

Project Supported by Higher Education Institutions , BAP MSc

KAYSERİLİ KARABEY H. (Executive)

2009 - 2012

Kraniyofasiyel Malformasyonlara Klinik ve Genetik Yaklaşım CRANIRARE

EU Framework Program Project

KAYSERİLİ KARABEY H. (Executive)

2011 - 2011

Gelişmekte olan ülkelerde 1. basamak hizmetlerinde genetiğin rolü

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2009 - 2011

nöronal migrasyon anomalilerinde genotip-fenotip ilişkisi

Project Supported by Higher Education Institutions , BAP PhD

KAYSERİLİ KARABEY H. (Executive)

2008 - 2011

Otozomal resesif mikrosefali'de klinik ve moleküler çalışmalar

Project Supported by Higher Education Institutions , BAP PhD

KAYSERİLİ KARABEY H. (Executive)

2008 - 2011

Nadir Hastalıkların Moleküler Temellerinin Araştırılması

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2007 - 2010

JUBERT SENDROMUNUN OKÜLO-RENAL FORMUNDA SAPTANAN CEP290 MUTASYON ARAŞTIRMALARI

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

2007 - 2008

25 ve 31 Haftalarda Kısa Femur Saptanması Nedeniyle Yapılan Testlerde Leroy I-Cell Tanısı alan Fetusların Postnatal Takibi

Project Supported by Higher Education Institutions , BAP Other

KAYSERİLİ KARABEY H. (Executive)

Activities in Scientific Journals

2013 - Present

American Journal of Medical Genetics Part A

Publication Committee Member

2005 - Present

European Journal of Medical Genetics

Publication Committee Member

Memberships and Roles in Scientific Organizations

1994 - Present

European Society of Human Genetics

Member

2007 - 2011

Tıbbi Genetik Derneği

Board Member

Peer Reviews in Scientific Publications

July 2013

European Journal of Medical Genetics

SCI Journal

May 2013

American Journal of Medical Genetics Part A

SCI Journal

April 2013

American Journal of Medical Genetics Part A

SCI Journal

October 2012

Cocuk Dergisi İstanbul Tıp Fakültesi / İstanbul Üniversitesi

National Scientific Refreed Journal

Congress and Symposium Activities

01 May 2013 - 01 May 2013

6. Dismorfoloji Günleri

Attendee

Salt Galata Karaköy / İstanbul-Turkey

01 December 2012 - 01 December 2012

10.Ulusal Tıbbi Genetik Kongresi

Attendee

Uludağ Üniversitesi / Bursa-Turkey

01 December 2012 - 01 December 2012

Tıbbi Genetikle Tanışma

Attendee

İÜ Baltalimanı Sosyal Tesisleri / İstanbul-Turkey

01 November 2012 - 01 November 2012

24.Endokrinoloji ve Metabolizma Hastalıkları Mezuniyet Sonrası Eğitim Kursu

Attendee

Askeri Müze Kültür Sitesi / İstanbul-Turkey

01 September 2012 - 01 September 2012

P4 Predictive Preventive Personalized Participatory

Attendee

Anadolu Üniversitesi / Eskişehir-Turkey

01 June 2012 - 01 June 2012

European Human Genetics Conference 2012

Attendee

Nürnberg / Almanya-Germany

01 April 2012 - 01 April 2012

3.Pediatri Günleri ve 13. Pediatri Hemşireliği Günleri

Attendee

Ceylan Intercontinental-Turkey

01 February 2012 - 01 February 2012

Acıbadem Üniv Pediatri Anabili Dalı Toplantıları OTİZM PANELİ

Attendee

Acıbadem Üniversitesi Tıp Fakültesi-Turkey

01 January 2012 - 01 January 2012

Mezuniyet Sonrası Eğitim Programı 2011-2012

Attendee

İstanbul Tıp Fakültesi İSTEM Salonu / İstanbul-Turkey

01 November 2011 - 01 November 2011

Fourth European Course in Clinical Dysmorphology

Attendee

Roma / İtalya-Italy

01 October 2011 - 01 October 2011

International Genetics Education Network

Attendee

Montreal -United Kingdom

01 September 2011 - 01 September 2011

European Biotechnology Congress

Attendee

İstanbul-Turkey

01 May 2011 - 01 May 2011

European of Human Genetics Conference

Attendee

Amsterdam -Netherlands

01 April 2011 - 01 April 2011

5. Dismorofoloji Günleri

Attendee

Nippon Otel / Taksim / İstanbul-Turkey

01 March 2011 - 01 March 2011

7.Uludağ Pediatri Kış Kongresi

Attendee

Uludağ Üniv. Tıp Fak. / Bursa-Turkey

01 March 2011 - 01 March 2011

33.Pediatri Günleri ve 12.Pediatri Hemşireliği Günleri

Attendee

Ceylan İntercontinental / İstanbul-Turkey

01 February 2011 - 01 February 2011

1. Nörometabolik Dismorfoloji Sempozyumu

Attendee

İstanbul -Turkey

01 January 2011 - 01 January 2011

Mezuniyet Sonrası Eğitim Programı 2010-2011

Attendee

İstanbul Tıp Fakültesi Çocuk Sağ. ve Hastalıkları AD-Turkey

01 April 2009 - 01 April 2009