Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

1998 ◽  
Vol 102 (4) ◽  
pp. 440-445 ◽  
Author(s):  
K. Grønskov ◽  
Anni Hallberg ◽  
Karen Brøndum-Nielsen
Keyword(s):  
Fragile X Syndrome ◽  
Mutational Analysis ◽  
Fragile X ◽  
Mentally Retarded ◽  
Fmr1 Gene

Roles of ZF5 and CGGBP-20 transcription factors in regulating expression of human FMR1 gene responsible for fragile X-syndrome

2010 ◽  
Vol 4 (1) ◽  
pp. 54-62 ◽  
Author(s):  
P. V. Gulyy ◽  
S. V. Orlov ◽  
E. B. Dizhe ◽  
K. B. Kuteikin-Teplyakov ◽  
I. A. Ignatovich ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Fmr1 Gene

scholarly journals Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

1996 ◽  
Vol 43 (2) ◽  
pp. 383-388
Author(s):  
M Milewski ◽  
M Zygulska ◽  
J Bal ◽  
W H Deelen ◽  
E Obersztyn ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Dna Sequence ◽  
Clinical Features ◽  
Fragile Site ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Repeat Number ◽  
Full Mutation ◽  
Cgg Repeats ◽  
Large Expansion

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

scholarly journals Anthropometric comparison of mentally retarded males with and without the fragile X syndrome

1991 ◽  
Vol 38 (2-3) ◽  
pp. 260-268 ◽  
Author(s):  
Merlin G. Butler ◽  
G. Andrew Allen ◽  
Judy L. Haynes ◽  
Dharmdeo N. Singh ◽  
Michael S. Watson ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded

Screening for fragile X syndrome: results from a school for mentally retarded children

2007 ◽  
Vol 91 (5) ◽  
pp. 535-539 ◽  
Author(s):  
S Hec̀imovic̀ ◽  
I Petek Tarnik ◽  
I Baric̀ ◽  
Ž Čkarun ◽  
K Pavelic̀
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Mentally Retarded Children

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males

1996 ◽  
Vol 97 (6) ◽  
pp. 808-812 ◽  
Author(s):  
Luciana A. Haddad ◽  
Regina C. Mingroni-Netto ◽  
Angela M. Vianna-Morgante ◽  
Sérgio D. J. Pena
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded

An Effective Strategy of Using Molecular Testing to Screen Mentally Retarded Individuals for Fragile X Syndrome

2001 ◽  
Vol 10 (1) ◽  
pp. 34-40 ◽  
Author(s):  
Ching–Cherng Tzeng ◽  
Shio–Jean Lin ◽  
Yung–Jung Chen ◽  
Pao–Lin Kuo ◽  
Yuh–Jyh Jong ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Molecular Testing ◽  
Effective Strategy
Sign in / Sign up

Export Citation Format

Share Document