Scientific work

Doç. Dr. Altuğ Koç

101 publications. The source of the information is stated next to each publication.

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  1. Tek Gen Hastalıklarında Prenatal Tanı

    Turkiye Klinikleri Medical Genetics - Special Topics, 2018

    Source: OpenAlex

  2. Prenatal diagnosis in a case of 8p inverted duplication deletion syndrome

    European Journal of Human Genetics, 2018

    Source: ORCID

  3. QFPCR in Invasive Prenatal Diagnosis: Single Center Experience in Turkey

    European Journal of Human Genetics, 2018

    Source: ORCID

  4. Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

    Cytogenetic and Genome Research, 2018

    DOI 10.1159/000486775 PMID 29518772 3 citations (Europe PMC) Source: ORCID

  5. Unusual Cause of Cavitating Leukoencephalopathy: Newly Described Pattern for Ethylmalonic Encephalopathy

    Epilepsia, 2018

    Source: ORCID

  6. Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

    Clinical Genetics, 2017

    DOI 10.1111/cge.12978 PMID 28128450 9 citations (Europe PMC) Source: ORCID

  7. QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

    Turkish Journal of Medical Sciences, 2017

    DOI 10.3906/sag-1511-157 PMID 28263482 1 citation (Europe PMC) Open-access full textSource: ORCID

  8. A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women with PCOS: A Cross-Sectional Study

    Journal of Clinical and Experimental Investigations, 2017

    DOI 10.5799/jcei.333378 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  9. Investigating KRAS/BRAF mutation in oropharyngeal squamous cell carcinomas: a preliminary study

    Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat, 2016

    DOI 10.5606/kbbihtisas.2016.22230 PMID 27888823 1 citation (Europe PMC) Source: ORCID

  10. Determination of HER2 and p53 Mutations by Sequence Analysis Method and EGFR/Chromosome 7 Gene Status by Fluorescence in Situ Hybridization for the Predilection of Targeted Therapy Modalities in Immunohistochemically Triple Negative Breast Carcinomas in Turkish Population

    Pathology and Oncology Research, 2015

    DOI 10.1007/s12253-015-9956-1 PMID 26060045 4 citations (Europe PMC) Source: ORCID

  11. Chromosomal and structural anomalies in fetuses with open neural tube defects

    Journal of Obstetrics and Gynaecology, 2014

    DOI 10.3109/01443615.2013.834307 PMID 24456437 11 citations (Europe PMC) Source: ORCID

  12. Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly

    Journal of Obstetrics and Gynaecology, 2014

    DOI 10.3109/01443615.2014.896885 PMID 24678817 26 citations (Europe PMC) Source: ORCID

  13. Asn680ser polymorphism of the follicle-stimulating hormone receptor gene (FSHR) is not associated with recurrent pregnancy loss (RPL).

    Genetic counseling (Geneva, Switzerland), 2014

    PMID 25365857 Source: ORCID

  14. ASN680SER POLYMORPHISM OF THE FOLLICLE-STIMULATING HORMONE RECEPTOR GENE (FSHR) IS NOT ASSOCIATED WITH RECURRENT PREGNANCY LOSS (RPL)

    Genetic Counseling, 2014

    Source: ORCID

  15. ASN680SER polymorphism of the follicle- Stimulating hormone receptor gene (FSHFT) is not associated with recurrent pregnancy loss (RPL)

    Genetic Counseling, 2014

    Source: ORCID

  16. Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome

    Turk Kardiyoloji Dernegi Arsivi, 2014

    DOI 10.5543/tkda.2014.71173 PMID 24643152 1 citation (Europe PMC) Source: ORCID

  17. Loss of Function Mutations in pnpla6 Cause Hypogonadotropic Hypogonadism due to Impaired LH Release from Pituitary Gonadotropes

    ESPE 2014, 2014

    Source: OpenAlex

  18. A case of dup(3q) syndrome.

    Genetic counseling (Geneva, Switzerland), 2013

    PMID 24551980 1 citation (Europe PMC) Source: ORCID

  19. A CASE OF DUP(3q) SYNDROME

    Genetic Counseling, 2013

    Source: ORCID

  20. A case of dup(3q) syndrome

    Genetic Counseling, 2013

    Source: ORCID

  21. Prenatal diagnosis of an autosomal translocation with regular trisomy 21

    Fetal and Pediatric Pathology, 2013

    DOI 10.3109/15513815.2012.721474 PMID 23301917 Source: ORCID

  22. NEW PHENOTYPE WITH GENERALIZED PLATYSPONDYLY, LARGE MANDIBLE, HYPOPLASTIC TEETH, STRABISMUS, HYPEROPIA AND LOW CHOLESTEROL LEVELS

    Genetic Counseling, 2011

    PMID 21848004 Source: ORCID

  23. New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels

    Genetic Counseling, 2011

    Source: ORCID

  24. The Apolipoprotein E Gene and Taq1A Polymorphisms in Childhood Obesity

    Genetic Testing and Molecular Biomarkers, 2010

    DOI 10.1089/gtmb.2010.0002 PMID 20373846 7 citations (Europe PMC) Open-access full textSource: OpenAlex

  25. The importance of systematic genetic approach to familial schizophrenia cases and discussion of cryptic mosaic X chromosome aneuploidies in schizophrenia pathogenesis.

    International journal of psychiatry in clinical practice, 2010

    DOI 10.3109/13651501003802151 PMID 24917321 4 citations (Europe PMC) Source: ORCID

  26. A case of Wolf-Hirschhorn syndrome with a characteristic EEG pattern; clinical and molecular cytogenetic diagnosis,Karakteristik EEG bulgularina sahip Wolf-Hirschhorn sendromlu bir olgu; klinik ve moleküler sitogenetik tani

    Turkiye Klinikleri Pediatri, 2010

    Source: ORCID

  27. Mos45,X/46,X,+mar.ish der(Y)(DYZ1+,SRY+)Dn karyotyped fetus in prenatal diagnosis: Case report,Prenatal tanida Mos45,X/46,X,+mar.ish der(Y)(DYZ1+,SRY+)Dn karyotipine sahip fetus

    Turkiye Klinikleri Jinekoloji Obstetrik, 2010

    Source: ORCID

  28. The progeny of homozygous identical reciprocal translocation carrier mother

    American Journal of Medical Genetics, Part A, 2010

    DOI 10.1002/ajmg.a.33144 PMID 20949530 1 citation (Europe PMC) Source: ORCID

  29. Karakteristik EEG Bulgularına Sahip Wolf-Hirschhorn Sendromlu Bir Olgu; Klinik ve Moleküler Sitogenetik Tanı

    Turkiye Klinikleri Journal of Pediatrics, 2010

    Source: OpenAlex

  30. Prenatal Tanıda Mos45,X/46,X,+Mar.Ish Der(Y)(DYZ1+,SRY+)Dn Karyotipine Sahip Fetus

    Turkiye Klinikleri Journal of Gynecology and Obstetrics, 2010

    Source: OpenAlex

  31. Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound

    Journal of Obstetrics and Gynaecology Research, 2009

    DOI 10.1111/j.1447-0756.2009.01040.x PMID 20149051 2 citations (Europe PMC) Source: ORCID

  32. Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

    Asian Journal of Andrology, 2009

    DOI 10.1038/aja.2009.37 PMID 19701220 11 citations (Europe PMC) Open-access full textSource: ORCID

  33. Three hemifascial microsomia patients and the review of the literature,Üç adet hemifasiyal mikrosomia hastasi ve literatürün gözden geçirilmesi

    Anatolian Journal of Clinical Investigation, 2009

    Source: ORCID

  34. CTLA4 Gene Polymorphisms in Children and Adolescents with Autoimmune Thyroid Diseases

    Genetic Testing, 2008

    DOI 10.1089/gte.2008.0053 PMID 18752454 16 citations (Europe PMC) Source: OpenAlex

  35. A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome

    Journal of Tropical Pediatrics, 2008

    DOI 10.1093/tropej/fmn060 PMID 18614593 12 citations (Europe PMC) Open-access full textSource: OpenAlex

  36. A case with a ring chromosome 22.

    The Turkish journal of pediatrics, 2008

    DOI 10.24953/turkjpediatr.2008.2411 PMID 18664089 3 citations (Europe PMC) Open-access full textSource: ORCID

  37. A case with bilateral radio-ulnar synostosis.

    Genetic counseling (Geneva, Switzerland), 2008

    PMID 18618994 Source: ORCID

  38. A case with a ring chromosome 22

    Turkish Journal of Pediatrics, 2008

    Source: ORCID

  39. A case with a ring chromosome 22

    Turkish Journal of Pediatrics, 2008

    Source: ORCID

  40. A case with bilateral radio-ulnar synostosis

    Genetic Counseling, 2008

    Source: ORCID

  41. A case with bilateral radio-ulnar synostosis

    Genetic Counseling, 2008

    Source: ORCID

  42. An unexpected finding in a child with neurological problems: Mosaic ring chromosome 18

    European Journal of Pediatrics, 2008

    DOI 10.1007/s00431-007-0568-y PMID 17668239 10 citations (Europe PMC) Source: ORCID

  43. Investigation of CTLA4 gene polymorphisms in children and adolescents with autoimmune Thyroid disease

    Hormone Research, 2008

    Source: ORCID

  44. A new case of hairy elbows syndrome (hypertrichosis cubiti).

    PubMed, 2007

    PMID 18019374 6 citations (Europe PMC) Source: OpenAlex

  45. A boy with small supernumerary marker chromosome X identified by FISH.

    Genetic counseling (Geneva, Switzerland), 2007

    PMID 18286820 2 citations (Europe PMC) Source: ORCID

  46. 46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?

    Chromosome Research, 2007

    Source: ORCID

  47. A boy with small supernumerary marker chromosome X identified by FISH

    Genetic Counseling, 2007

    Source: ORCID

  48. A boy with small supernumerary marker chromosome X identified by FISH

    Genetic Counseling, 2007

    Source: ORCID

  49. A girl with a mosaic ring chromosome 18

    Chromosome Research, 2007

    Source: ORCID

  50. A neonate with omphalocele and patent ductus arteriosus with a 46,XX,t(1;2)(q42;q32) karyotype

    Chromosome Research, 2007

    Source: ORCID