Publications by authors named "Mehmet Alikaşifoğlu"

73Publications

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.

Neuropediatrics 2020 Jul 14. Epub 2020 Jul 14.

Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0040-1714125DOI Listing
July 2020

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.

J Clin Immunol 2020 Aug 4;40(6):934-939. Epub 2020 Jul 4.

School of Medicine, Department of Dermatology and Venereology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10875-020-00815-5DOI Listing
August 2020

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Rheumatology (Oxford) 2020 May 23. Epub 2020 May 23.

Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1093/rheumatology/keaa165DOI Listing
May 2020

Clock gene polymorphism is associated with susceptibility to Graves' disease but not to Hashimoto's thyroiditis.

Chronobiol Int 2019 10 22;36(10):1343-1350. Epub 2019 Jul 22.

Department of Endocrinology and Metabolism, Hacettepe University School of Medicine , Ankara , Turkey.

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http://dx.doi.org/10.1080/07420528.2019.1642909DOI Listing
October 2019

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Fetal Pediatr Pathol 2020 Apr 15;39(2):163-171. Epub 2019 Jul 15.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1080/15513815.2019.1639089DOI Listing
April 2020

Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis.

Z Geburtshilfe Neonatol 2019 Oct 27;223(5):297-303. Epub 2019 May 27.

Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Ankara, Turkey.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0877-7869
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http://dx.doi.org/10.1055/a-0877-7869DOI Listing
October 2019

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

J Clin Immunol 2019 01 8;39(1):99-105. Epub 2019 Jan 8.

Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10875-018-0587-7DOI Listing
January 2019

Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Eur J Med Genet 2019 Nov 27;62(11):103585. Epub 2018 Nov 27.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2018.11.019DOI Listing
November 2019

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.

Neuropediatrics 2019 02 19;50(1):41-45. Epub 2018 Nov 19.

Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675626
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http://dx.doi.org/10.1055/s-0038-1675626DOI Listing
February 2019

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Eur J Med Genet 2019 Jun 11;62(6):103535. Epub 2018 Sep 11.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183036
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http://dx.doi.org/10.1016/j.ejmg.2018.09.002DOI Listing
June 2019

Genetic testing for DADA2: How can we avoid missing patients?

Eur J Hum Genet 2018 11 11;26(11):1563-1565. Epub 2018 Sep 11.

Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://www.nature.com/articles/s41431-018-0240-1
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http://dx.doi.org/10.1038/s41431-018-0240-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189089PMC
November 2018

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Am J Med Genet A 2018 09 31;176(9):2009-2016. Epub 2018 Jul 31.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.40427DOI Listing
September 2018

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

J Rheumatol 2018 12 15;45(12):1671-1679. Epub 2018 Jul 15.

From the Department of Pediatrics, Division of Rheumatology, and the Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara; Department of Pediatrics, Division of Rheumatology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul; Department of Pediatrics, Division of Nephrology and Rheumatology, Akdeniz University Faculty of Medicine, Antalya; Department of Pediatrics, Division of Rheumatology, Umraniye Training and Research Center, University of Health Sciences, Istanbul; Department of Pediatrics, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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http://dx.doi.org/10.3899/jrheum.171358DOI Listing
December 2018

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Eur J Med Genet 2019 Jan 25;62(1):21-26. Epub 2018 Apr 25.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2018.04.013DOI Listing
January 2019

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

Eur J Obstet Gynecol Reprod Biol 2018 Feb 16;221:76-80. Epub 2017 Dec 16.

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics, Ankara, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S03012115173058
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http://dx.doi.org/10.1016/j.ejogrb.2017.12.028DOI Listing
February 2018

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Fetal Pediatr Pathol 2017 Dec 8;36(6):445-451. Epub 2017 Dec 8.

a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.

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http://dx.doi.org/10.1080/15513815.2017.1379039DOI Listing
December 2017

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.

Am J Perinatol 2018 Apr 7;35(5):427-433. Epub 2017 Nov 7.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0037-1608632DOI Listing
April 2018

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.

Clin Immunol 2018 02 7;187:92-94. Epub 2017 Nov 7.

Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.clim.2017.10.010DOI Listing
February 2018

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Am J Med Genet A 2017 Dec 8;173(12):3143-3152. Epub 2017 Oct 8.

Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.38495DOI Listing
December 2017

Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.

Neuro Endocrinol Lett 2017 Aug;38(4):248-254

Hacettepe University, Faculty of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey.

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August 2017

Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.

Neuropediatrics 2017 12 11;48(6):477-481. Epub 2017 Aug 11.

Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0037-1604483DOI Listing
December 2017

Association between ACE and AGT polymorphism and cardiovascular risk in acromegalic patients.

Pituitary 2017 Oct;20(5):569-577

Department of Medical Genetics, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1007/s11102-017-0819-5DOI Listing
October 2017

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Korean J Fam Med 2017 Mar 22;38(2):102-105. Epub 2017 Mar 22.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.4082/kjfm.2017.38.2.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371580PMC
March 2017

HERC1 mutations in idiopathic intellectual disability.

Eur J Med Genet 2017 May 18;60(5):279-283. Epub 2017 Mar 18.

Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.007DOI Listing
May 2017

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.

Turk J Ophthalmol 2016 Dec 1;46(6):299-300. Epub 2016 Dec 1.

Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.4274/tjo.59375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177790PMC
December 2016

A novel missense mutation of the GRK1 gene in Oguchi disease.

Mol Med Rep 2016 Oct 9;14(4):3129-33. Epub 2016 Aug 9.

Department of Medical Genetics, Hacettepe University, School of Medicine, Ankara 06230, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042745PMC
http://dx.doi.org/10.3892/mmr.2016.5620DOI Listing
October 2016

Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases.

Psychiatry Investig 2016 Jul 25;13(4):427-33. Epub 2016 Jul 25.

Department of Medical Genetics, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.4306/pi.2016.13.4.427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965653PMC
July 2016

Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study.

Turk J Pediatr 2015 Jul-Aug;57(4):324-33

Department of Health Informatics, Middle East Technical University, Informatics Institute, Ankara, Turkey.

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September 2017

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

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

J Rheumatol 2015 Aug;42(8):1532-4

Professor, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine.

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http://dx.doi.org/10.3899/jrheum.150024DOI Listing
August 2015

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.

Turk J Pediatr 2014 Sep-Oct;56(5):542-5

Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2016

Etiological yield of SNP microarrays in idiopathic intellectual disability.

Eur J Paediatr Neurol 2014 May 25;18(3):327-37. Epub 2014 Jan 25.

Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.004DOI Listing
May 2014

Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects.

Pediatr Int 2014 Apr 28;56(2):167-72. Epub 2014 Jan 28.

Pediatric Cardiology, Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1111/ped.12222DOI Listing
April 2014

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

J Child Neurol 2013 Jul 22;28(7):926-32. Epub 2013 Apr 22.

Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073813484967DOI Listing
July 2013

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population.

Mol Vis 2013 28;19:114-20. Epub 2013 Jan 28.

Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559092PMC
September 2013

Two siblings with similar phenotypes: one of them had ring 20 chromosome.

Clin EEG Neurosci 2013 Jan 27;44(1):58-61. Epub 2012 Nov 27.

Department of Neurology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/1550059412451700DOI Listing
January 2013

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Turk J Pediatr 2011 Sep-Oct;53(5):558-60

Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_T
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February 2012

Serum PON-1 activity but not Q192R polymorphism is related to the extent of atherosclerosis.

J Atheroscler Thromb 2012 22;19(4):376-84. Epub 2011 Dec 22.

Department of Biochemistry, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.5551/jat.11320DOI Listing
September 2012

CYP1A1 polymorphism in adolescents with polycystic ovary syndrome.

Int J Gynaecol Obstet 2011 Jan 20;112(1):8-10. Epub 2010 Oct 20.

Department of Pediatrics, Division of Adolescent Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ijgo.2010.07.032DOI Listing
January 2011

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Turk J Pediatr 2009 May-Jun;51(3):199-206

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2009

ALX4 dysfunction disrupts craniofacial and epidermal development.

Hum Mol Genet 2009 Nov 19;18(22):4357-66. Epub 2009 Aug 19.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1093/hmg/ddp391DOI Listing
November 2009

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

Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.32825DOI Listing
June 2009

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

Department of Nuclear Medicine, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/1470320309102326DOI Listing
March 2009

Association of assisted reproductive technology with twinning and congenital anomalies.

Indian J Pediatr 2008 Jun 31;75(6):638-40. Epub 2008 Aug 31.

Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Childrens' Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1007/s12098-008-0123-5DOI Listing
June 2008

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Acta Ophthalmol 2009 Feb 19;87(1):52-7. Epub 2008 Jun 19.

Ulucanlar Eye Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1111/j.1600-0420.2007.01082.xDOI Listing
February 2009

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.

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2008.03.002DOI Listing
October 2008

CYP1A1 gene polymorphism and polycystic ovary syndrome.

Reprod Biomed Online 2008 Mar;16(3):356-60

Department of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/s1472-6483(10)60596-2DOI Listing
March 2008

Factor V Leiden mutation and type 1 diabetes mellitus.

Blood Coagul Fibrinolysis 2008 Jan;19(1):70-4

Department of Endocrinology and Metabolism, Baskent University Medical School, Ankara, Turkey.

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http://dx.doi.org/10.1097/MBC.0b013e3282f38c5fDOI Listing
January 2008

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.

Department of Genetics, Hacettepe University Medical School, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2005.05.012DOI Listing
April 2009

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.

Division of Genetics, Department of Pediatrics, Hacettepe University, Sihhiye, 06100 Ankara, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212050010
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http://dx.doi.org/10.1016/j.ejmg.2005.04.020DOI Listing
April 2006

CYP1A1 gene polymorphism as a risk factor for cervical intraepithelial neoplasia and invasive cervical cancer.

Gynecol Oncol 2006 Jun 5;101(3):503-6. Epub 2006 Jan 5.

Department of Obstetrics and Gynecology, Hacettepe University School of Medicine, 06100, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ygyno.2005.11.018DOI Listing
June 2006

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 Oct-Dec;47(4):327-33

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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January 2006

Five Fanconi anemia patients with unusual organ pathologies.

Am J Hematol 2004 Sep;77(1):50-4

Department of Pediatrics, Pediatric Hematology Unit, Hacettepe University Faculty of Medicine, Ihsan Doĝramaci Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajh.20130DOI Listing
September 2004

Tumor necrosis factor-alpha polymorphism in Turkish patients with dilated cardiomyopathy.

Eur J Heart Fail 2003 Mar;5(2):161-3

Faculty of Medicine, Department of Pediatrics, Division of Genetic Diseases, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1016/s1388-9842(02)00238-6DOI Listing
March 2003

Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever.

J Heart Valve Dis 2003 Jan;12(1):7-10

Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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January 2003

Serum alpha-fetoprotein level in Fanconi's anemia: evaluation of 33 Turkish patients.

Am J Hematol 2002 Dec;71(4):275-8

Department of Pediatric Hematology, Ihsan Doğramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajh.10231DOI Listing
December 2002

CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm.

Gynecol Oncol 2002 Aug;86(2):124-8

Department of Genetics, Hacettepe University Medical School, 06100, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1006/gyno.2002.6720DOI Listing
August 2002