PMID- 29714459
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 1300-0144 (Print)
IS  - 1300-0144 (Linking)
VI  - 48
IP  - 2
DP  - 2018 Apr 30
TI  - Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic 
      short stature with FISH and sequencing.
PG  - 386-390
LID - 10.3906/sag-1711-74 [doi]
AB  - Background/aim: The aim of this study was to investigate the prevalence of the 
      microdeletions and mutations of the SHOX gene in children with idiopathic short 
      stature (ISS) by the usage of fluorescence in situ hybridization (FISH) and 
      direct sequencing technique. Materials and methods: Thirty-seven children 
      referred to our clinic because of short stature were classified as having ISS 
      after clinical examination. Chromosome analyses, FISH analysis of the SHOX gene, 
      and direct sequencing of the coding exons of SHOX , through the second to the 
      sixth exon, in 24 of the 37 patients were also performed. Results: All children 
      had normal karyotypes and the SHOX gene region was found to be intact in all. No 
      mutation was detected in the exonic sequences and exon/intron boundaries of the 
      SHOX gene in 24 children analyzed. Conclusion: No mutation was detected in the 
      exonic sequences and exon/intron boundaries of the SHOX gene and this indicated 
      that the prevalence of the SHOX mutations can differ according to the selection 
      criteria, used methods, sample size, and population.
FAU - Bakir, Abdullatif
AU  - Bakir A
FAU - Yirmibes Karaoguz, Meral
AU  - Yirmibes Karaoguz M
FAU - Percin, Ferda Emriye
AU  - Percin FE
FAU - Tug, Esra
AU  - Tug E
FAU - Cinaz, Peyami
AU  - Cinaz P
FAU - Ergun, Mehmet Ali
AU  - Ergun MA
LA  - eng
PT  - Journal Article
DEP - 20180430
PL  - Turkey
TA  - Turk J Med Sci
JT  - Turkish journal of medical sciences
JID - 9441758
OTO - NOTNLM
OT  - *Idiopathic short stature
OT  - *microdeletion
OT  - *mutation analyses
OT  - *fluorescence in situ hybridization
OT  - *SHOX gene
EDAT- 2018/05/02 06:00
MHDA- 2018/05/02 06:01
CRDT- 2018/05/02 06:00
PHST- 2018/05/02 06:00 [entrez]
PHST- 2018/05/02 06:00 [pubmed]
PHST- 2018/05/02 06:01 [medline]
AID - 10.3906/sag-1711-74 [doi]
PST - epublish
SO  - Turk J Med Sci. 2018 Apr 30;48(2):386-390. doi: 10.3906/sag-1711-74.