Fragile X syndrome : (Record no. 67373)
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| 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 |
| 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 |