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1.
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
J Med Genet
; 60(8): 819-826, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36543534
2.
Association of Intelectin 1 Gene rs2274907 A > T Polymorphism with Obesity, Type 2 Diabetes, Serum Intelectin-1 Levels and Lipid Profiles in Turkish Adults.
Biochem Genet
; 61(6): 2276-2292, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37020118
3.
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Ann Hum Genet
; 85(5): 155-165, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33877690
4.
Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
Am J Med Genet A
; 185(6): 1721-1731, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33704912
5.
Levels of miR-130b-5p in peripheral blood are associated with severity of coronary artery disease.
Mol Biol Rep
; 48(12): 7719-7732, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34689283
6.
The rs2175898 Polymorphism in the ESR1 Gene has a Significant Sex-Specific Effect on Obesity.
Biochem Genet
; 58(6): 935-952, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32651892
7.
Risk of obesity and metabolic syndrome associated with FTO gene variants discloses clinically relevant gender difference among Turks.
Mol Biol Rep
; 43(6): 485-94, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27146691
8.
Prevalence of Prader-Willi syndrome among infants with hypotonia.
J Pediatr
; 164(5): 1064-7, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24582009
9.
Negative results in screening for possible new sequence variations on ATP-binding cassette transporter A1 gene in Turkish adults with metabolic syndrome.
Turk Kardiyol Dern Ars
; 42(6): 524-30, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25362942
10.
Examining the effects of coronary artery disease- and mitochondrial biogenesis-related genes' and microRNAs' expression levels on metabolic disorders in epicardial adipose tissue.
Gene
; 895: 147988, 2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37977322
11.
Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.
Eur J Med Genet
; 66(11): 104854, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37758162
12.
Minor allele of the APOA4 gene T347S polymorphism predisposes to obesity in postmenopausal Turkish women.
Mol Biol Rep
; 39(12): 10907-14, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23096082
13.
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction.
Mol Syndromol
; 13(2): 108-116, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-35418826
14.
Val109Asp polymorphism in Intelectin 1 gene is associated with coronary artery disease severity in women.
Turk Kardiyol Dern Ars
; 50(1): 34-45, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-35197231
15.
Association of polymorphisms in the sex hormone genes with the presence and severity of coronary artery disease.
Turk Kardiyol Dern Ars
; 50(1): 22-33, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-35197230
16.
Gender- and obesity-specific effect of apolipoprotein C3 gene (APOC3) -482C>T polymorphism on triglyceride concentration in Turkish adults.
Clin Chem Lab Med
; 50(2): 285-92, 2011 Oct 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-22004016
17.
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Eur J Med Genet
; 64(7): 104248, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34000439
18.
[Investigating the role of ceramide metabolism-associated CERS5 (LASS5) gene in atherosclerosis pathogenesis in endothelial cells]. / Seramid metabolizmasi ile iliskili CERS5 (LASS5) geninin endotel hücrelerinde ateroskleroz patogenezindeki rolünün arastirilmasi.
Turk Kardiyol Dern Ars
; 45(2): 118-125, 2017 Mar.
Artículo
en Turco
| MEDLINE | ID: mdl-28424433
19.
Two novel variants and follow-up findings in four children with Bloom syndrome from two families.
Clin Dysmorphol
; 31(1): 31-35, 2022 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34538859
20.
Sex- and Obesity-specific Association of Aromatase (CYP19A1) Gene Variant with Apolipoprotein B and Hypertension.
Arch Med Res
; 46(7): 564-71, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26415088