Literature DB >> 8541863

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

F Quan1, M Grompe, P Jakobs, B W Popovich.   

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Year:  1995        PMID： 8541863     DOI： 10.1093/hmg/4.9.1681

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  20 in total

1.  The gene for cherubism maps to chromosome 4p16.

Authors:  V Tiziani; E Reichenberger; C L Buzzo; S Niazi; N Fukai; M Stiller; H Peters; F M Salzano; C M Raposo do Amaral; B R Olsen
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  [Clinical and molecular genetic observations on families with cherubism over three generations].

Authors:  M Petschler; M Stiller; B Hoffmeister; R Witkowski; C Opitz; J S Bill; H Peters
Journal:  Mund Kiefer Gesichtschir       Date:  2003-01-11

3.  DNA methylation and replication: implications for the "deletion hotspot" region of FMR1.

Authors:  K Nichol Edamura; C E Pearson
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

Review 4.  Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.

Authors:  Robert D Wells
Journal:  J Biol Chem       Date:  2008-10-28       Impact factor: 5.157

5.  Cherubism: a case report.

Authors:  Saikrishna Degala; K P Mahesh
Journal:  J Maxillofac Oral Surg       Date:  2013-02-24

6.  Finding FMR1 mosaicism in Fragile X syndrome.

Authors:  Thaís Fernandez Gonçalves; Jussara Mendonça dos Santos; Andressa Pereira Gonçalves; Flora Tassone; Guadalupe Mendoza-Morales; Márcia Gonçalves Ribeiro; Evelyn Kahn; Raquel Boy; Márcia Mattos Gonçalves Pimentel; Cíntia Barros Santos-Rebouças
Journal:  Expert Rev Mol Diagn       Date:  2016-02-09       Impact factor: 5.225

7.  The gene for cherubism maps to chromosome 4p16.3.

Authors:  J Mangion; N Rahman; S Edkins; R Barfoot; T Nguyen; A Sigurdsson; J V Townend; D R Fitzpatrick; A M Flanagan; M R Stratton
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

8.  Size and methylation mosaicism in males with Fragile X syndrome.

Authors:  Poonnada Jiraanont; Madhur Kumar; Hiu-Tung Tang; Glenda Espinal; Paul J Hagerman; Randi J Hagerman; Nuanchan Chutabhakdikul; Flora Tassone
Journal:  Expert Rev Mol Diagn       Date:  2017-11       Impact factor: 5.225

9.  Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Authors:  Reinhard E Friedrich; Jozef Zustin; Andreas M Luebke; Thorsten Rosenbaum; Martin Gosau; Christian Hagel; Felix K Kohlrusch; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2021 May-Jun       Impact factor: 2.155

Review 10.  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
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