mak

 

ANABİLİM DALI BAŞKANI

 

Prof.Dr.Mehmet ALİKAŞİFOĞLU

YAYINLAR VE ATIFLAR

SCI, SCI Expanded, SSCI ve AHCI kapsamındaki dergilerde yayınlanan makaleler


1

Altay C, Alikasifoglu M, Kara A, Tuncbilek E Ozbek N, Schroder-Kerth T.

Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non –Fanconi anemia):
Hacettepe experience Clin Genet 1997; 51:296-302.

2

Tokgozoglu L, Alikasifoglu M, Atalar E, Tuncbilek E, Ovunc K, Aksoyek S, Kabakci G, Anar B, Unal I, Kes S.

Angiotensin –Converting Enzyme gene polymorphism is not associated with the risk or extent of ischemic heart disease in Turkish patients .
Coronary Artery Disease 1997; 8: 137-142.

3

Tunçbilek E, Boduroğlu K, Alikaşifoğlu M.

Results of the Turkish Congenital Malformation Survey.
Turk J Pediatr 1999; 41: 287-297.

4

Tunçbilek E, Boduroğlu K, Alikaşifoğlu M.

Neural tube defects in Turkey: Prevalence, distribution and risk factors.
Turk J Pediatr 1999; 41: 299-305.

5

Tokgözoğlu SL, Alikaşifoğlu M, Unsal İ, Atalar E, Aytemır K, Özer N, Övünç K, Ünsal Ö, Kes S, Tunçbilek E

Methylene Tetrahydrofolate Reductase Genotype and the Risk and Extend of Coronary Artery Disease in a Population with Low Plasma Folate.
Heart  81:518-522,1999.

6

Boduroğlu K, Alikasifoğlu M, Anar B, Tunçbilek E.

Association of the 677C®T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects.
 J Child Neurol 1999; 14: 159-161.

7

Koc A, Pronk J, Alikasifoglu M, Joenje H, Altay C. 130.

Variable pathogenity of exon 43del (FAA) in four Fanconi anameia patients within a consanguineous family.
British Journal of Hematology  1999; 104:127-

8

Ozen S, Alikasifoglu M, Saatci U, Bakkaloglu A, Besbas N, Kara N, Kocak H, Erbas B, Unsal I, Tuncbilek E.

Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: importance of ACE polymorphism.
Am J Kidney Dis1999 Jul;34(1):140-5.

9

Alikaşifoğlu M,   Topaloğlu H, Tunçbilek E, Ceviz N, Anar B, Demir  E, Özme Ş.

Clinical and Genetic  Correlate in Childhood Onset Freidreich Ataxia.
Neuropediatrics. 1999; 30:1-5.

10

Erbas T, Alikasifoglu M, Aksoyek S, Unsal I, Gedik O, Tuncbilek E.

Effects of angiotensin-converting enzyme gene polymorphism on the left-ventricular function and mass in patients with acromegaly.
Cardiology 1999;92(4):226-31.

11

Alikaşifoğlu M,  Malkoc N, Ceviz N, Ozme S, Uludogan S, Tunçbilek E. 218.

Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.  
 Turk J Pediatr2000; 42: 215-

12

Tunçbilek E, Alikaşifoğlu M,  Aktas D,  Duman F, Yanik H, Anar B, Oostra B,  Willemsen  R.

Screening for the Fragile X syndrome among mentally retarded males by hair root analysis. 
Amer. J. Med Genet. 2000; 95:105-107.

13

Vencovsky J, Jarosova K, Ruzickova S, Nemcova D, Niederlova J, Ozen S,Alikasifoglu M, Bakkaloglu A, Ollier WE, Mageed RA.

Higher frequency of allele 2 of the interleukin-1 receptor antagonist gene in patients with juvenile idiopathic arthritis.
Arthritis Rheum. 2001 Oct;44(10):2387-91.

14

Aslan D, Gumruk F, Alikasifoglu M, Altay C. 

Serum alpha-fetoprotein level in Fanconi's anemia: evaluation of 33 Turkish patients.
Am J Hematol. 2002 Dec;71(4):275-8.

15

Aktas D, Guney I, Alikasifoglu M, Yuce K, Tuncbilek E, Ayhan A.  

CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm.
Gynecol Oncol. 2002 Aug;86(2):124-8.

16

Ozen S, Alikasifoglu M, Bakkaloglu A, Duzova A, Jarosova K, Nemcova D, Besbas N, Vencovsky J, Tuncbilek E.

Tumour necrosis factor alpha G-->A -238 and G-->A -308 polymorphisms in juvenile idiopathic arthritis. Rheumatology (Oxford). 2002 Feb;41(2):223-7.

17

Atalar E, Tokgozoglu SL, Alikasifoglu M, Ovunc K, Aksoyek S, Kes S, Tuncbilek E.

Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever.
J Heart Valve Dis. 2003 Jan;12(1):7-10.
A1.18

18

Unal S, Ozbek N, Kara A, Alikasifoglu M, Gumruk F.

Five Fanconi anemia   patients with unusual organ pathologies. Am J Hematol. 2004 Sep;77(1):50-4.

19

Tutuncu NB, Erbas T, Alikasifoglu M, Tuncbilek E.

Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels.
J Intern Med. 2005 May;257(5):446-53.

20

Boduroğlu K, Alanay Y, Alikaşifoğlu M, Aktaş D, Tunçbilek E.

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.
 Turk J Pediatr  2005; 47: 327-333.

21

Taskiran C, Aktas D, Yigit-Celik N, Alikasifoglu M, Yuce K, Tuncbilek E, Ayhan A.  

CYP1A1 gene polymorphism as a risk factor for cervical intraepithelial neoplasia and invasive cervical cancer.
Gynecol Oncol. 2006 Jun;101(3):503-6. Epub 2006 Jan 5.

22

Utine GE, Alikasifoglu A, Alikasifoglu M, Tuncbilek E.

Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue.
Eur J Med Genet. 2006 Jan-Feb;49(1):79-82. Epub 2005 Jun 29.

23

Aktas D, Alikasifoglu M, Gonc N, Senocak ME, Tuncbilek E.

Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.
Eur J Med Genet. 2006 Mar-Apr;49(2):141-9. Epub 2005 Jul 1.

24

Esinler I, Aktas D, Alikasifoglu M, Tuncbilek E, Ayhan A.

CYP1A1 gene    polymorphism and risk of endometrial hyperplasia and endometrial carcinoma.
Int J Gynecol Cancer. 2006 May-Jun;16(3):1407-11.

25

Alanay Y, Unal F, Turanli G, Alikasifoglu M, Alehan D, Akyol U, Belgin E, Sener C, Aktas D, Boduroglu K, Utine E, Volkan-Salanci B, Ozusta S, Genc A, Basar F, Sevinc S, Tuncbilek E. A1.26  

A multidisciplinary approach to the management of individuals with fragile X syndrome.
 J Intellect Disabil Res. 2007 Feb;51(Pt 2):151-61.

26

Demirer AN, Alikasifoglu M, Tuncbilek E, Karakus S, Erbas T.

Factor V  Leiden   mutation and type 1 diabetes mellitus.
 Blood Coagul Fibrinolysis. 2008 Jan;19(1):70-4.

27

Esinler I, Aktas D, Otegen U, Alikasifoglu M, Yarali H, Tuncbilek E.

CYP1A1 gene polymorphism and polycystic ovary syndrome.
Reprod Biomed Online. 2008 Mar;16(3):356-60.

28

Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP.

Cryptic trisomy 5q35.2qter and deletion 1p36.3
characterised using FISH and array-based CGH.
Eur J Med Genet. 2008 Jul-Aug;51(4):343-50. Epub 2008 Mar 27. PubMed PMID: 18440888.

29

Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M.

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
Acta Ophthalmol. 2009 Feb;87(1):52-7. Epub 2008 Jun 19. PubMed PMID: 18616618.

30

Balci S, Engiz O, Alikasifoglu M, Esinler I, Sinan Beksac M.

Association of assisted reproductive technology with twinning and congenital anomalies.
 Indian J Pediatr. 2008 Jun;75(6):638-40. Epub 2008 Aug 31. PubMed PMID: 18759096.

31

Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E.

Kabuki syndrome and trisomy 10p.
Genet Couns. 2008;19(3):291-300. PubMed PMID: 18990985.

32

Volkan-Salanci B, Dagdelen S, Alikasifoglu M, Erbas T, Hayran M, Erbas B.

Impact of renin-angiotensin system polymorphisms on renal haemodynamic
responsiveness to acute angiotensin-converting enzyme inhibition in type 2
diabetes mellitus.
J Renin Angiotensin Aldosterone Syst. 2009 Mar;10(1):41-50.
PubMed PMID: 19286758.

33

Sari N, Akyuz C, Aktas D, Gumruk F, Orhan D, Alikasifoglu M, Aydin B, Alanay Y, Buyukpamukcu M.

Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.
Pediatr Blood Cancer. 2009 Aug;53(2):208-10. PubMed PMID: 19373780.

34

Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K.

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.
Am J Med Genet A. 2009 Jun;149A(6):1317-8. PubMed PMID: 19449409.

35

Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G,  Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA.

ALX4 dysfunction disrupts craniofacial and epidermal development.
Hum Mol Genet. 2009 Nov 15;18(22):4357-66. Epub
2009 Aug 19. PubMed  PMID: 19692347.

36

Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D.

Subtelomeric rearrangements in mental retardation.
Hacettepe University experience in 130 patients. Turk J Pediatr 2009 May-Jun;51(3):199-206,PubMed PMID:19817261

37

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet. 2010 Apr 9;86(4):551-9. Epub 2010 Apr 1. Erratum in: Am J Hum

38

Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F,Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA.

Disruption of ALX1 causes extreme microphthalmia and severe facial  clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.
Am J Hum Genet. 2010 May 14;86(5):789-96. Epub 2010 May 6. PubMed PMID: 20451171; PubMed Central PMCID: PMC2869009.

39

Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N,Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E.

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.
Mol Cytogenet. 2010 May 28;3(1):10. PubMed PMID: 20509907; PubMed Central PMCID: PMC2887874.

40

Aktas D, Gultekin M, Kabacam S, Alikasifoglu M, Turan AT, Tulunay G, Kose MF, Ortac F, Yüce K, Tunçbilek E, Ayhan A

 Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients
Gynecol Oncol. 2010 Oct;119(1):131-5. Epub 2010 Jul 16. PubMed PMID: 20638108.

41

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.

Mutations in the Gene Encoding the RER ProteinFKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta.
Am J Hum Genet. 2010 Oct 8;87(4):572-3. PubMed PMID: 20933632; PubMed Central PMCID: PMC2948794.

42

Akgül S, Derman O, Alikaşifoğlu M, Aktaş D.

CYP1A1 polymorphism in adolescentswith polycystic ovary syndrome.
Int J Gynaecol Obstet. 2011 Jan;112(1):8-10. Epub 2010 Oct 20. PubMed PMID: 20965504.

Sözlü Poster veya Bildiriler

Balcı S., Önol B., Gedikoğlu G., Alikaşifoğlu M., Tanır G. A case of VATER Association was diagnosed prenatally 13th week of fetal life and postmortem examination. European Society of Human Genetics (ESHG) 24th Annual Meeting (Denmark) 27-31 May, 1992.

Balcı S, Önol B, Topçu M, Alikaşifoğlu M, Beksaç S., Küçükali T.    X-linked ALD in two brothers: A first trial prenatally diagnosed by cord blood analysis at 22 weeks. 7th International Conference on Early Prenatal Diagnosis (Israel) May 22-27, 1994.

Alikaşifoğlu M., Tunçbilek E., Aktaş D. Detection of aneuploidy by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. 2nd Balkan Meeting on Human Genetics. 3-6 September,1996

Balcı S., Aktaş D., Enunlu T., Güler Ç., Alikaşifoğlu M.  Chromosomal abnormalities in 189 couples with recurrent abortions. 2nd Balkan Meeting on Human Genetics. 3-6 September,1996

Özen S, Alikaşifoglu M, Saatçi Ü, Anar B, Bakkaloğlu A, Beşbaş N, and Tunçbilek E. Genetic predisposition to reflux nephropathy: Evidence for a role of the ACE gene. Journal of American Society  of Nephrology  1996, 7 (9): 1861

Tunçbilek E, Alikaşifoğlu M, Boduroğlu K. The Incidence and risk factors of congenital malformations in Turkey.  Medizinische Genetik 1997;9:188.

Alikaşifoğlu M,Özen S, Tunçbilek E, Anar B, Bakkaloğlu A, Beşbaş N, Topaloglu R, Saatçi Ü.  Deletion Polymorphism of the ACE gene associates with increased risk for reflux nephropathy in the Turkish population., Medizinische Genetik 1997;9:100.

Alikaşifoğlu M,  Tunçbilek E, Aktas D. Prenatal detection of aneuploidies by FISH and maternal cell contamination in uncultured amniotic fluid. Cytogenetics and cell Genetics 1997;77(1-2) 86.

Tokgözoğlu SL, Alikaşifoğlu M, Unsal İ, Atalar E, Aytemır K, Özer N, Övünç K, Ünsal Ö, Kes S, Tunçbilek E . MTHFR  Gene Polymorphism Predicts The Presence and Extent of Coronary Atherosclerosis. XXth Congress of the European Society of Cardiology, 22-26 August, Vienna, 1998.

Tunçbilek E, Alikaşifoğlu M, Boduroğlu K, Aktaş D, Anar B. Molecular Diagnosis and Clinical Findings of Turkish Patient with Fragile X  Syndrome. 8th International Workshop on Fragile X Syndrome & X-Linked Mental retardation, Ontario, 1998.

Tunçbilek E, Alikaşifoğlu M,  Aktas D. Screening for the Fragile X syndrome among mentally retarded males by hair root analysis.  9th International Workshop on Fragile X Syndrome and X linked Mental Retardation, Strasbourg, 23-25 August, 1999.

Balcı S,  Alikaşifoğlu M.  Familial Mosaic Ring Chromosome 18: Second European Cytogenetics Conference, Vienna, 3-6 July, 1999.

Alikaşifoğlu M,  Tunçbilek E, Aktas D,  Duman F, Yanik H, Anar B, Oostra B,  Willemsen  R. Screening for the Fragile X syndrome among mentally retarded males by hair root analysis.  The 7th International Fragile X Conference , Los Angeles, July 19-23, 2000

Topcu M, Cinbis M, Renda Y, Yalaz K, Ozdirim E, Aysun S, Topaloglu H, Anlar B, Turanlı G, Yalnızoglu D, Kayıhan M, Oktem F, Yazıcı M, Hergersberg M, Ozcelik T, Alikaşifoğlu M,  Tuncbilek E. Rett Syndrome in Turkey. World Congress on Rett Syndrome 2000, Japan.

Balci S,Alikaşifoğlu M, Tümer c, Bartsch O.  Mosaic Ring Chromosome 18.Annales de Genetique 2001; 44(suppl 1): 149.

Boduroglu K, Alanay Y, Alikaşifoğlu M , Aktas D, Koldan B, Tuncbilek E. Methylenetetrahydrofolate reductase gene polymorphism: a maternal risk factor for Down syndrome? Human Genome Meeting 2002, Shanghai, China.

Alikaşifoğlu M , Güney İ,Aktas D, Yüce K,Ayhan A, Tuncbilek E. CYP1A1 gene Polymorphism and risk of epithelial ovarian neoplasm. Human Genome Meeting 2002, Shanghai, China.

Aktas D, Alikasifoglu M, Yaralı H, Aksu T, Halıcıgil C, Tuncbilek E. Combined cytogenetic and Y Chromosome microdeletion screening of Turkish males with severe male factor infertility. Annales de Genetique 2003;46: 179.

Alanay Y, Berker N, Elgin U, Volkan-Salancı B, Akarsu N, Tuncbılek E , Alikasifoglu M. Autosomal dominant Peters anomaly in a large family without causative mutations in PAX6 and CYP1B1 genes. ASHG 55th Annual Meeting, October 25-29, 2005 Utah.

Tuncbilek, Y. Alanay, D. Aktas , K. Boduroglu, E. Utine, B. Volkan-Salancı  Alikasifoglu M, Hacettepe FXS Study Group. Re-evaluation of Individuals with FXS After 10 Years (1995-2004) of Molecular Diagnostic Experience in a Tertiary Turkish Center. ASHG 55th Annual Meeting, October 25-29, 2005 Utah.

Balcı S., Alikaşifoğlu M., Erçal D., Eryılmaz M., Akın Y. Ring kromozom 9.  XXXIV. Milli Pediatri Kongresi. 17-21 Eylül 1990.

Balcı S., Koloğlu S., Alikaşifoğlu M. 48,XXYY Sendromu gösteren bir vaka. XIV. Ulusal Endokrinoloji Kongresi. 28-29 Eylül 1990.

Balcı S., Önol B., Gürsu G., Erbengi A., Alikaşifoğlu M. Multipl eksostozis ile giden yeni hamartomatöz sendrom. IX. Ulusal Patoloji Kongresi. 31 Ekim-4 Kasım 1990.

Balcı S., Erçal D., Önol B., Bayraktaroğlu Z.,  Alikaşifoğlu M. Hacettepe Üniversitesi Klinik Genetik Bölümünde 1980-1991 yılları arasında prenatal tanı uygulanan 210 vakanın klinik, sitogenetik ve postmortem çalışma sonuçlarının analizi. 3. Ulusal Perinataloji Kongresi. 1-5 Mart 1992.

Alikaşifoğlu M., Güler E, Altay Ç. Fanconi Anemisi: Lenfosit kültürlerinde DEB ve MMC indükleme ile sitogenetik tanı. II Ulusal Tıbbi Biyoloji Kongresi, Ankara, 22-24 eylül, 1992.

Alikaşifoğlu M., Tunçbilek E., Aktaş D. Frajil X geçişli Mental retardasyonlarda Sitogenetik Tanı: Fra(X) (q27.3). II Ulusal Tıbbi Biyoloji Kongresi, Ankara, 22-24 eylül, 1992.

Kara A., Alikaşifoğlu M., Güler E., Albayrak D., Altay Ç. Konstitusyonel aplastik anemisi olan 65 olgunun incelenmesi (Fanconi aplastik anemisi ve non-Fanconi aplastik anemisi). XXXVIII. Milli Pediatri Kongresi. 18-21 Eylül 1994.

Beşbaş N, Alikaşifoglu M, Saatçi Ü, Anar B, Bakkaloğlu A, Özen S, and Tunçbilek E. Minimal Lezyon Hastalığı ve fokal segmental dlomerulosklerozda ACE ve PAI-1 Gen polimorfizmleri. XV. Ulusal Nefroloji, Hipertansiyon, Diyaliz ve Trans. Kongresi, İzmir, 4-9 Ekim, 1998.

Topaloğlu R, Alikaşifoglu M, Tunçbilek E , Şahin N, Anar B, Özen S, Bakkaloğlu A,  Saatçi Ü,. Esansiyel hipertansiyonlu çocuklarda ACE gen polimorfizmi. XV. Ulusal Nefroloji, Hipertansiyon, Diyaliz ve Trans. Kongresi, İzmir, 4-9 Ekim, 1998.

Özen S, Alikaşifoglu M, Saatçi Ü, Anar B, Bakkaloğlu A, Beşbaş N, and Tunçbilek E. Reflü Nefropatisinde ACE ve AT1 gen Polimorfizmlerinin Böbrek prognozuna etkisi. XV. Ulusal Nefroloji, Hipertansiyon, Diyaliz ve Trans. Kongresi, İzmir, 4-9 Ekim, 1998.

Tokgözoğlu SL, Alikaşifoğlu M, Unsal İ, Atalar E, Aytemır K, Özer N, Övünç K, Ünsal Ö, Kes S, Tunçbilek E . Methylene Tetrahydrofolate Reductase Genotipi ile Homosistein düzeylerinin KAH riski ve yaygılığıyla ilişkisi. XIV. Ulusal kardiyoloji Kongresi, Antalya, 10-13 ekim, 1998.

Çetin M, Uçkan D, Tezcan İ, Tuncer M, Alikaşifoğlu M, Altay Ç. Fanconi aplastik anemisinde allojenik kemik iliği transplantasyonu : 4 Vaka X. Pediatrik Onkoloji Kongresi 24 ekim 1998 Ankara.

Balcı S, Alikaşifoğlu M , Beksaç S.Testiküler Feminizasyon ve meslek seçimi. IV. Ulusal Pediatrik Endokrinoloji Kongresi 8-10 Eylül 1999, Ankara.

Tunçbilek E, Balcı S, Alikaşifoğlu M, Boduroğlu K, Aktas D, Beksaç S, Önderoğlu L. Hacettepe Üniversitesi Prenatal tanı merkezinde 1987-1999 Yıllarında Yapılan Prenatal Tanı Çalışmalarının Değerlendirilmesi. IV. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, İzmir, 3-6 Mayıs, 2000.

Balcı S, Engiz Ö, Beksaç S, Alikaşifoğlu M. ICSI gebelik konjenital malformasyon riskini artırıyor mu? Fetal Tıp; Prenatal Tanı 2005, Antalya

Hacettepe Üniversitesi’nde yayınlanan dergilerde yer alan makaleler

Alikasifoglu M, Tunçbilek E. Büyüme geriliğinin genetik nedenleri. Katkı Pediatri Dergisi 1994; 5: 375-381.

Alikasifoglu M, Tunçbilek E. Multifaktöriyel Kalıtım. Katkı Pediatri Dergisi1997; 18(5): 566-575.

Alikasifoglu M. Moleküler Sitogenetik Katkı Pediatri Dergisi1997; 18(5): 604-615.

Alikasifoglu M, Tunçbilek E. Frajil X sendromu için tarama yöntemleri. Katkı Pediatri Dergisi 2000; 21(3): 461-466.

Alikasifoglu M. Taramalarda yeni teknolojiler. Katkı Pediatri Dergisi 2000; 21(3): 467-468.

Alikasifoglu M, Tunçbilek E. Vücut ağırlığının düzenlenmesinde genetik faktörler. Katkı Pediatri Dergisi 2000; 21(4): 507-512.

Utine E., Alikasifoglu M, Prenatal tanı ve nörometabolik hastalıklar. Katkı Pediatri Dergisi 2004; 26(6): 1083-1089.

Uluslararası kongrelerde sunulan, SCI, SCI Expanded, SSCI ve AHCI kapsamındaki dergi özel sayılarında veya aynı kapsamlardaki kongre kitabında tam metni veya özeti yayınlanmış bildiriler ve editöre mektuplar.

Gürgey A, Kara A, Tuncer M, Alikaşifoğlu M, Tunçbilek E. Acute lymphoblastic leukemia with Klinefelter syndrome. Ped Hematology and Oncology1994, 11:227-228.

Yetgin S, Tuncer M, Güler E, Duru F and Alikaşifoğlu M. Acute lymphoblastic leukemia in Fanconi Anemia. Am J Hematology1994, 45:94-101.

Sungur C,  Alikaşifoğlu M, Breuning MH, Peters DJM. Genetic linkage analysis of autosomal dominant polycystic kidney disease in Turkish family. Nephron 1995, 70:388.

Özen S,  Alikaşifoğlu M, Tunçbilek E, Anar B, Bakkaloğlu A, Beşbaş N, Saatçi Ü. Polymorphisms in Angiotensin converting enzyme gene and reflux nephropaty: A genetic predisposition to scar formation ? Nephrolohy Dialysis Transplantation, 12: 2031-2032, 1997.

Boduroğlu K, Alikasifoglu M, Anar B, Tunçbilek E. The 677C®T mutation on the methylenetetrahydrofolate reductase gene is not a risk factor for neural tube defects in Turkey. Arch Dis Child Fetal Neonat Ed 1998; 78: F235.

Tuncbilek E, Alikasifoglu M, Boduroglu K, Aktas D, Anar B. Frequency of Fragile X syndrome among Turkish patients with mental retardation of unknown etiology. Am J Med Genet 1999;84: 202-203.

Boduroglu K, Alikasifoglu M, Uludogan S, Tuncbilek E. Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition. Clin Dysmorphol1998; 7: 299-301.

Demiroglu H, Alikasifoglu M, Yalcin B, Dundar S.  Aplastic anaemia and reticulated skin hyperpigmentation. Postgrad Med J. 1997 Oct;73(864):679-80.

Balcı S, Beksaç S,  Alikaşifoğlu M. Prenatal diagnosis of Down syndrome in one of the twin pregnancy and selective fetocide. 8. Int. Clinical Genetics Seminar (Greece), June 23-28, 1996.

Balcı S, Önol B, Topçu M, Alikaşifoğlu M, et al. Prenatally diagnosed  X-linked ALD by cord blood analysis at 22 weeks. 8. Int. Clinical Genetics Seminar (Greece), June 23-28,1996.

Alikasifoglu M, Erbas T, Tuncbilek E, Anar B, Gedik O. Relationship between ACE gene Polymorphism and nephropaty in Turkish Diabetic Population. 16th International Diabetes Congress, helsinki, 20-25 July, 1997. Diabetologia 1997; 40(suppl 1):A 523

Tokgözoğlu SL, Alikaşifoğlu M, Atalar E, Tunçbilek E, Ovünç K, Aksöyek S, Kabakçı G, Kes S. ACE   Gene Polymorphism is not associated with the risk or extent of ischemic heart disease in Turkish patients. 11th International Syposium on Atherosclerosis, Paris, 5-9 October, 1997.Atherosclerosis, 1997, 134: 83.

Özen S, Alikaşifoglu M, Tunçbilek E, Anar B, Bakkaloğlu A, Beşbaş N, Topaloglu R, Saatçi Ü.  Genetic predisposition to scar formation in reflux nephropathy: Pediatric Nephrology1997,  11 :C 26.

Alikaşifoğlu M,   Topaloğlu H, Tunçbilek E, Ceviz N, Anar B, Demir  E, Özme Ş. Childhood Onset Freidreich Ataxia:A clinical and genetic study of 28 patients. Eur J Hum Genet. 1998; 6(suppl 1): 54.

Boduroglu K, Alikasifoglu M, Anar B, Tuncbilek E. The 677C®T mutation on the methylenetetrahydrofolate reductase gene is not a risk factor for neural tube defects in Turkish population. Eur J Hum Genet. 1998; 6(suppl 1): 102-103.

Alikaşifoğlu M,   Topaloğlu H, Tunçbilek E, Ceviz N, Anar B, Aynacı M, Demir  E, Özme Ş. Clinical and genetic correlate in childhood onset Freidreich Ataxia. Muscle&Nerve, 1998:P01 Inter. Congresss on Neuromuscular Diseases, Australia

Erbas T, Tokgözoğlu L,  Alikasifoglu M, Kabukcu M, Kes S, Tuncbilek E, Gedik O. The Effects of angiotensin-converting enzyme gene polymorphism on the left-ventricular function and mass in patients with diabetes mellitus. Diabetologia 1998; 41(suppl 1):1329.

Özen S, Alikaşifoglu M, Saatçi Ü, Anar B, Bakkaloğlu A, Beşbaş N, Topaloglu R, Tunçbilek E. Effects of ACE-DD genotype on scar formation in reflux nephropathy: A survey in 85 children. The 11th Congress of International Pediatric Nephrology1998;12: C77.

Tunçbilek E, Alikaşifoğlu M,  Aktas D. Screening for the Fragile X syndrome among mentally retarded males by hair root analysis. Neuromuscular Disorders 1999; 9: 496.

Alikaşifoğlu M,   Topaloğlu H, Tunçbilek E, Ceviz N, Anar B, Aynacı M, Demir  E, Özme Ş. Clinical and genetic correlate in childhood onset Freidreich Ataxia.
         Neuromuscular Disorders 1999; 9: 492.

Atalar E, Tokgozoglu SL, Alikasifoglu M, Ovunc K, Aksoyek S, Kes S, Tuncbilek E. ACE genotype predicts valve damage in acute rheumatic fever. American College of Cardiology 1999: Suppl. 1225-177.

Nar A, Erbas T, Alikaşifoğlu M,  Tuncbilek E, Enunlu T, Kirazli S, Gedik O. No association of activated Protein C sensitivity ratio and Factor V Leiden mutation with diabetes mellitus. J Endocrinol Invest. 2000; 23(suppl 7): 49.

Balci S, Alikasifoglu M, Gozdasoglu S, Sahin S, Aydinson Y, Gürgey A. Two cases of dyskeratosis congenita with renal agenesis and zinc deficiency. Eur J Hum Genet. 2000; 8(suppl 1):p117.

Alikasifoglu M , Malkoc N, Ozme S, Tuncbilek E. Microdeletion of 22q11 screening  in patients with congenital heart defects. Eur J Hum Genet. 2000; 8(suppl 1):p118.

Alikasifoglu M , Adalioglu G, Saraclar Y, Tuncer A, Tuncbilek E. Genetic polymorphism of the ACE and TNF-alpha in Childhood Asthma. Eur J Hum Genet 2001;9(suppl 1):343.

Besbas N, Alikasifoglu M , Ozen S, Saatci U, catal F, Bakkaloglu A, Tuncbilek E. ACE gene polymorphism in childhood focal segmental glomerulosclerosis.  Pediatric Nephrology2002;17: C80.

Taskiran C, Aktas D, Yigit-Celik N, Alikasifoglu M, Yuce K, Tuncbilek E, Ayhan A.  CYP1A1 gene polymorphism as a risk factor for cervical intraepithelial neoplasia and invasive cervical cancer. Int J Gynecol Cancer 2002; 12(5): 622.

Ibrahim Esinler, Dilek Aktas, Alikasifoglu M, Kunter Yuce, Ergul Tuncbilek, Ali Ayhan. CYP1A1 polymorphic genotypes in endometrial hyperplasia and endometrial carcinoma patients. Int J Gynecol Cancer. 2002; 12 (5): 646

Aktas D, Alikasifoglu M, Taskıran C, Esinler I, Yuce K, Ayhan A, Tuncbilek E. CYP1A1 gene polymorphism and risk of gynaecological neoplasm in Turkish population. Eur J Hum Genet 2003; 11(Supp 1): 61.

Balci S, S.Ozer, Tumer C, Boke B, Alikasifoglu M.  ‘’ cases with Williams Beuren syndrome: Clinical findings and management guidelines. Eur J Hum Genet  2004; 12(Supp 1):  83.

Aktas D, Akın B, Alikasifoglu M, Akarsu N, Topaloglu H, Tuncbilek E. Exclusion of GDAP1 and MTMR2 genes responsible for CMT4A and CMTB1 phenotypes in autosomal recessive Charcot-Marie-Tooth Disease (AR-CMT). Euro J Hum Genet 2005; 13(Supp 1): 301.

Alikasifoglu M, Tokgozoglu L, Humpries S, Aktas D, Sansoy V, Onat A, Tuncbilek E. Lack of association of TaqIB polymorphism In the CETP gene with HDL levels and risk of CAD in Turkish population. Euro J Hum Genet 2005; 13(Supp 1): 238.

Bilge Salanci, Selcuk DagdelenBelkis Erbas, Alikasifoglu M,, Tomris Erbas,  Ergul Tuncbilek The role of ace gene (insertion/deletion) polymorphism on the variable renal hemodynamic response to captopril. J Nucl Med 2005; 46 Suppl:21p.

Aktas D, Alikasifoglu M, Gonc N, Senocak M, Tuncbilek E. Isodicentric Y(p11.32) Chromosome in an infant with mixed gonadal dysgenesis.
         Chromosome Research 2005; 13 (suppl 1): 49.

Alikasifoglu M, Aktas D, Tuncbilek E. Down syndrome with concomitant familial balanced translocation t(17;20) (q25;q12). Chromosome Research 2005; 13 (suppl 1): 40.

Aktas D, Gultekin M, Aksan G, Tulunay G, Ilhan AK, Alikasifoglu M, Kose F, Tuncbilek E, Ayhan A. BRCA1/BRCA2 mutations in primary ovarian cancer patients. Inter J Gynecol Cancer 2005; 15: 102.

*Tüm yayınlar için 500 ‘ ün üzerinde atıf vardır (kaynak: Web of Science)