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Fragile X syndrome : (Record no. 67373)

MARC details
000 -LEADER
fixed length control field 02951cam a2200349 a 4500
003 - CONTROL NUMBER IDENTIFIER
control field EG-GiCUC
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250223032041.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 180909s2018 ua dh f m 000 0 eng d
040 ## - CATALOGING SOURCE
Original cataloging agency EG-GiCUC
Language of cataloging eng
Transcribing agency EG-GiCUC
041 0# - LANGUAGE CODE
Language code of text/sound track or separate title eng
049 ## - LOCAL HOLDINGS (OCLC)
Holding library Deposite
097 ## - Thesis Degree
Thesis Level Ph.D
099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC)
Classification number Cai01.11.07.Ph.D.2018.Am.F
100 0# - MAIN ENTRY--PERSONAL NAME
Personal name Amany Salah Eldeen Ahmed Mazen
245 10 - TITLE STATEMENT
Title Fragile X syndrome :
Remainder of title Diagnosis by molecular characterization of FMR 1 gene and clinical correlation /
Statement of responsibility, etc. Amany Salah Eldeen Ahmed Mazen ; Supervised Hoda Mohamed Abdeighany , Eman Ahmed Ehssan , Menatalla Kamal Eldeen
246 15 - VARYING FORM OF TITLE
Title proper/short title الهشة X متلازمة :
Remainder of title مع العلاقة الاكلينيكية FMR-1التشخيص بواسطة التوصيف الجزيئي لجين
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Place of publication, distribution, etc. Cairo :
Name of publisher, distributor, etc. Amany Salah Eldeen Ahmed Mazen ,
Date of publication, distribution, etc. 2018
300 ## - PHYSICAL DESCRIPTION
Extent 152 P. :
Other physical details charts , facsimiles ;
Dimensions 25cm
502 ## - DISSERTATION NOTE
Dissertation note Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520 ## - SUMMARY, ETC.
Summary, etc. Fragile X syndrome, the most common form of inherited intellectual disability, is caused by expansion of CGG trinucleotide repeat at the 5' untranslated region of the FMR1 gene at Xq27.The main clinical features of FXS are mental retardation, macro-orchidism, long face, prominent jaw, connective tissue abnormalities, and behavioral problems. In affected individuals, the CGG repeat expansion leads to hypermethylation and the gene is transcriptionally inactive. The main clinical features of FXS are mental retardation, macro-orchidism, long face, prominent jaw, connective tissue abnormalities, and behavioral problems.The present study represents an attempt to detect expected alleles for FMR 1 gene by methylation sensitive PCR based method with clinical correlation to the molecular characterization aiming to rapid screening of fragile X syndrome among patients with intellectual disability.The study included 50 male patients with intellectual disability and clinical features suggestive of fragile X syndrome. A control group of 50 healthy age matched volunteers were also conducted. All patients were subjected to full history taking including family history and thorough clinical examination using a 15-item checklist, karyotyping using GTG banding for the detection of concomitant numerical or structural chromosomal abnormalities. Molecular diagnosis for the detection of expanded alleles of the FMR1 gene using Methylation sensitive PCR technique after bisulfite treatment of DNA was applied
530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE
Additional physical form available note Issued also as CD
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term FMR1 gene
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Fragile X syndrome
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Intellectual disability
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Eman Ahmed Ehssan ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Hoda Mohamed Abdeighany ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Menatalla Kamal Eldeen ,
Relator term
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a>
905 ## - LOCAL DATA ELEMENT E, LDE (RLIN)
Cataloger Nazla
Reviser Revisor
905 ## - LOCAL DATA ELEMENT E, LDE (RLIN)
Cataloger Shimaa
Reviser Cataloger
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Source of classification or shelving scheme Dewey Decimal Classification
Koha item type Thesis
Holdings
Source of classification or shelving scheme Not for loan Home library Current library Date acquired Full call number Barcode Date last seen Koha item type Copy number
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة قاعة الرسائل الجامعية - الدور الاول 11.02.2024 Cai01.11.07.Ph.D.2018.Am.F 01010110075702000 22.09.2023 Thesis  
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة مخـــزن الرســائل الجـــامعية - البدروم 11.02.2024 Cai01.11.07.Ph.D.2018.Am.F 01020110075702000 22.09.2023 CD - Rom 75702.CD