Literature DB >> 8829661

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.

A M Birot1, B Delobel, P Gronnier, V Bonnet, I Maire, D Bozon.   

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Year:  1996        PMID： 8829661     DOI： 10.1002/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  11 in total

Review 1.  Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

Authors:  I Maire
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

2.  Long-term follow-up following bone marrow transplantation for Hunter disease.

Authors:  A Vellodi; E Young; A Cooper; V Lidchi; B Winchester; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Authors:  A M Zink; E Wohlleber; H Engels; O K Rødningen; K Ravn; S Heilmann; J Rehnitz; N Katzorke; C Kraus; S Blichfeldt; P Hoffmann; H Reutter; F F Brockschmidt; M Kreiß-Nachtsheim; P H Vogt; T E Prescott; Z Tümer; J A Lee
Journal:  Mol Syndromol       Date:  2014-01-29

4.  Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Authors:  K Grønskov; H Hjalgrim; M O Bjerager; K Brøndum-Nielsen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

Review 5.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

6.  Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report.

Authors:  Gauri Shankar Shah; Tania Mahal; Subodh Sharma
Journal:  J Med Case Rep       Date:  2010-05-26

7.  A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

Authors:  Alessandra Zanetti; Rosella Tomanin; Angelica Rampazzo; Chiara Rigon; Nicoletta Gasparotto; Matteo Cassina; Maurizio Clementi; Maurizio Scarpa
Journal:  JIMD Rep       Date:  2014-07-25

Review 8.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

9.  Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies.

Authors:  Noriko Watanabe; Kohei Kitada; Katherine E Santostefano; Airi Yokoyama; Sara M Waldrop; Coy D Heldermon; Daisuke Tachibana; Masayasu Koyama; Amy M Meacham; Christina A Pacak; Naohiro Terada
Journal:  Cell Reprogram       Date:  2020-06-30       Impact factor: 1.987

10.  Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.

Authors:  Cedrik Tekendo-Ngongang; Angela Grochowsky; Benjamin D Solomon; Sho T Yano
Journal:  Genes (Basel)       Date:  2021-10-22       Impact factor: 4.096
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