G-6PD ?ankara?. A new G-6PD variant with deficiency found in a Turkish family

1975 ◽  
Vol 27 (3) ◽  
pp. 247-250 ◽  
Author(s):  
Axel Kahn ◽  
M. L. North ◽  
J. Messer ◽  
P. Boivin
Keyword(s):  
Turkish Family

A novel heterozygous mutation in exon 3 of VHL gene leading to Von Hippel-Lindau disease in a Turkish family

2019 ◽  
Author(s):  
Ozge Tasgin Yildirim ◽  
Ismail Yildiz ◽  
Fatih Horozoglu ◽  
Aysun Gonen ◽  
Cenk Murat Yazici ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Turkish Family ◽  
Von Hippel Lindau Disease

Varied phenotypic spectrum presenting of paroxysmal exercise–induced dyskinesia: a Turkish family with SLC2A1 mutation

2021 ◽  
Author(s):  
Murat Gultekin ◽  
Muhammet Ensar Dogan ◽  
Gulsah Simsir ◽  
Ayse Nazlı Basak
Keyword(s):  
Phenotypic Spectrum ◽  
Turkish Family ◽  
Exercise Induced

C0236: A Turkish Family with MYH9 R1933X Mutation

2014 ◽  
Vol 133 ◽  
pp. S80
Author(s):  
A. Ozturk ◽  
E. Buke ◽  
F. Yenigurbuz ◽  
O. Tufekci ◽  
T. Hilkay Karapinar ◽  
...  
Keyword(s):  
Turkish Family

scholarly journals The Emergence of Islamist Official and Unofficial Laws in the Erdoganist Turkey: The Case of Child Marriages

Religions ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 513
Author(s):  
Ihsan Yilmaz
Keyword(s):  
Legal Pluralism ◽  
Fundamental Rights ◽  
Vulnerable Groups ◽  
Right Wing ◽  
The Social ◽  
Critical Issues ◽  
Turkish Family ◽  
The Republic ◽  
Age Of Marriage ◽  
The Impact

Religion in the hands of authoritarian governments can prove to be an effective political instrument to further their agenda. This paper attempts to explore this aspect of authoritarianism with the case of Turkish family laws under Erdoganist Islamist legal pluralism. The paper analyzes the AKP’s government’s attempts at pro-Islamist legislation, fatwas produced by Diyanet (Turkish Directorate of Religious Affairs) and by pro-government right-wing religious scholars to explore the changes that have occurred, both formally and informally, in the largely secular family laws of the Republic of Turkey in the last decade. By focusing on the age of marriage, this paper tries to understand the impact of Islamist legal pluralism and unofficial Islamist laws on the formal legal system as well as the social implications of this plural socio-legal reality, particularly for vulnerable groups such as the poor, refugees, children, and women. The trends demonstrate the informal system’s skew towards Islamism, patriarchy and disregard for fundamental rights. This Islamist legal plurality almost always operates against the women and underage girls, which creates profound individual and social problems. The paper concludes by pointing out the critical issues emerging in the domain of family law due to the link between the growing power of Islamist legal pluralism and its political instrumentalization by the Justice and Development Party (AKP).

Mild Congenital Primary Hypothyroidism in a Turkish Family Caused by a Homozygous Missense Thyrotropin Receptor (TSHR) Gene Mutation (A593 V)

2005 ◽  
Vol 113 (10) ◽  
pp. 582-585 ◽  
Author(s):  
S. Fricke-Otto ◽  
N. Pfarr ◽  
R. Mühlenberg ◽  
J. Pohlenz
Keyword(s):  
Gene Mutation ◽  
Primary Hypothyroidism ◽  
Thyrotropin Receptor ◽  
Turkish Family ◽  
Tshr Gene

Turkish Family Romance

1992 ◽  
Vol 66 (1) ◽  
pp. 63
Author(s):  
Djelal Kadir
Keyword(s):  
Family Romance ◽  
Turkish Family

Congenital hypothyroidism in a Turkish family: the role of immunoglobulins blocking the trophic effects of TSH and maternal-foetal relationship

1986 ◽  
Vol 111 (1) ◽  
pp. 44-53 ◽  
Author(s):  
R. D. van der Gaag ◽  
H. Frisch ◽  
M. Weissel ◽  
G. Wick ◽  
H. A. Drexhage
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Autoimmunity ◽  
Thyroid Tissue ◽  
Mild Form ◽  
Juvenile Form ◽  
Turkish Family ◽  
Blocking Antibodies ◽  
Thyroid Microsomal Antibodies ◽  
Trophic Action

Abstract. A Turkish family with frequent intermarriages is described, in which two siblings were born with persistent forms of congenital hypothyroidism, in the elder child concomitant with absent radioactive thyroid imaging. The mother was clinically euthyroid throughout the period of observation, but showed in addition to thyroid microsomal antibodies, high levels of immunoglobulins blocking the trophic action of TSH. These maternal growth blocking antibodies were transiently present in the youngest of the siblings (from birth to 2 months of age). She had a relatively mild form of congenital hypothyroidism (T3: 33 μg/100 ml; T4: 3.9 μg/100 ml). The older sibling, with proven non-functioning thyroid tissue (negative thyroidscan, T4: 0.4 μg/100 ml) produced the growth-blocking immunoglobulins herself and may thus represent a juvenile form of thyroid autoimmunity with a very early onset. An aunt and uncle of the children, both hypothyroid since birth, were at the age of 19 and 18 years weakly positive for growth blocking immunoglobulins. This study indicates that familial forms of congenital hypothyroidism are probably complex and may be brought about by maternal to foetal passage of thyroid reactive autoantibodies, but also by the inheritance of a trait for thyroid autoimmunity. In some cases these two mechanisms might act in conjunction.

Spinocerebellar Ataxia Type 2 in a Turkish Family

2007 ◽  
Vol 22 (7) ◽  
pp. 891-894 ◽  
Author(s):  
Eray Dirik ◽  
Uluc Yis ◽  
Nazli Basak ◽  
Esra Soydan ◽  
Orkide Hüdaoğlu ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Turkish Family

Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia

2008 ◽  
Vol 390 (1-2) ◽  
pp. 152-155 ◽  
Author(s):  
Amanda J. Hooper ◽  
Baris Akinci ◽  
Abdurrahman Comlekci ◽  
John R. Burnett
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Turkish Family ◽  
Familial Hypobetalipoproteinemia

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family

2003 ◽  
Vol 45 (1) ◽  
pp. 16-22 ◽  
Author(s):  
INCILAY SINICI ◽  
H.ASUMAN OZKARA ◽  
MERAL TOPCU ◽  
GONENC CILIV
Keyword(s):  
Molecular Characterization ◽  
Hexosaminidase A ◽  
Turkish Family
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