Literature DB >> 18246734

Application of medical genetics in Turkey.

Ergül Tunçbilek1, Meral Ozgüç.   

Abstract

Turkey is among the most populous countries of the world, and has a young population structure. The rate of consanguinity has been approximately 20-25% for the last 25 years. Various studies have shown that high consanguinity can be a contributing factor to the high incidence of some rare autosomal recessive diseases. Hemoglobinopathies are an important health problem, and Turkey also has one of the highest incidences of phenylketonuria in the world. Training and education in medical genetics, established as a specialty since 1972, play an important role in the setting of genetic services and meeting public health problems. Prenatal and preimplantation diagnosis is available for a variety of fetal diseases.

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Mesh:

Year:  2007        PMID: 18246734

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  10 in total

1.  Niemann-Pick disease type C in the newborn period: a single-center experience.

Authors:  Ersin Gumus; Goknur Haliloglu; Asuman Nur Karhan; Hulya Demir; Figen Gurakan; Meral Topcu; Aysel Yuce
Journal:  Eur J Pediatr       Date:  2017-09-27       Impact factor: 3.183

2.  Next-generation community genetics for low- and middle-income countries.

Authors:  Stephen F Kingsmore; John D Lantos; Darrell L Dinwiddie; Neil A Miller; Sarah E Soden; Emily G Farrow; Carol J Saunders
Journal:  Genome Med       Date:  2012-03-29       Impact factor: 11.117

3.  Genetic screening services provided in Turkey.

Authors:  Yurdagül Erdem; Fulya Tekşen
Journal:  J Genet Couns       Date:  2013-09-18       Impact factor: 2.537

4.  Evaluation of married haemoglobinopathic carrier couples for prevention of haemoglobinopathic births.

Authors:  Ersin Nazlıcan; Ozlem Celenk; Bayram Kerkez; Hakan Demirhindi; Muhsin Akbaba; Mustafa Kiremitçi
Journal:  Balkan Med J       Date:  2013-09-27       Impact factor: 2.021

5.  Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Authors:  Alessandra Zanetti; Neslihan Onenli-Mungan; Nursel Elcioglu; Mehmet Nuri Ozbek; Deniz Kör; Elisabetta Lenzini; Maurizio Scarpa; Rosella Tomanin
Journal:  JIMD Rep       Date:  2013-11-16

Review 6.  Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.

Authors:  Zeynep Şıklar; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2016-05-16

Review 7.  Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.

Authors:  Fatih Ezgu; Erkan Alpsoy; Zerrin Bicik Bahcebasi; Ozgur Kasapcopur; Melis Palamar; Huseyin Onay; Binnaz Handan Ozdemir; Mehmet Akif Topcuoglu; Omac Tufekcioglu
Journal:  Orphanet J Rare Dis       Date:  2022-03-02       Impact factor: 4.123

8.  Newborn Screening: From the Past to the Future.

Authors:  Ayşe Çiğdem Aktuğlu Zeybek
Journal:  Turk Arch Pediatr       Date:  2022-09

9.  Haemoglobinopathy Awareness among Young Students in Turkey: Outcomes of a City-Wide Survey.

Authors:  Ramazan Azim Okyay; Özlem Çelenk; Ersin Nazlıcan; Muhsin Akbaba
Journal:  PLoS One       Date:  2016-07-22       Impact factor: 3.240

10.  Occupational health and safety characteristics of agricultural workers in Adana, Turkey: a cross-sectional study.

Authors:  Ramazan Azim Okyay; Ferdi Tanır; Pelin Mutlu Ağaoğlu
Journal:  PeerJ       Date:  2018-06-01       Impact factor: 2.984

  10 in total

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