Literature DB >> 19033593

Testing for fragile X gene mutations throughout the life span.

Randi J Hagerman1, Paul J Hagerman.   

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Year:  2008        PMID： 19033593      PMCID： PMC2766594          DOI： 10.1001/jama.2008.684

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  15 in total

Review 1.  Screening for fragile X syndrome: a literature review and modelling study.

Authors:  F J Song; P Barton; V Sleightholme; G L Yao; A Fry-Smith
Journal:  Health Technol Assess       Date:  2003       Impact factor: 4.014

2.  Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.

Authors:  Faraz Farzin; Hazel Perry; David Hessl; Danuta Loesch; Jonathan Cohen; Susan Bacalman; Louise Gane; Flora Tassone; Paul Hagerman; Randi Hagerman
Journal:  J Dev Behav Pediatr       Date:  2006-04       Impact factor: 2.225

3.  Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

Authors:  D A Hall; E Berry-Kravis; S Jacquemont; C D Rice; J Cogswell; L Zhang; R J Hagerman; P J Hagerman; M A Leehey
Journal:  Neurology       Date:  2005-07-26       Impact factor: 9.910

Review 4.  Therapeutic implications of the mGluR theory of fragile X mental retardation.

Authors:  M F Bear
Journal:  Genes Brain Behav       Date:  2005-08       Impact factor: 3.449

5.  Protein composition of the intranuclear inclusions of FXTAS.

Authors:  C K Iwahashi; D H Yasui; H-J An; C M Greco; F Tassone; K Nannen; B Babineau; C B Lebrilla; R J Hagerman; P J Hagerman
Journal:  Brain       Date:  2005-10-24       Impact factor: 13.501

6.  Association of FMR1 repeat size with ovarian dysfunction.

Authors:  A K Sullivan; M Marcus; M P Epstein; E G Allen; A E Anido; J J Paquin; M Yadav-Shah; S L Sherman
Journal:  Hum Reprod       Date:  2004-12-17       Impact factor: 6.918

7.  Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.

Authors:  Sébastien Jacquemont; Randi J Hagerman; Maureen A Leehey; Deborah A Hall; Richard A Levine; James A Brunberg; Lin Zhang; Tristan Jardini; Louise W Gane; Susan W Harris; Kristin Herman; James Grigsby; Claudia M Greco; Elizabeth Berry-Kravis; Flora Tassone; Paul J Hagerman
Journal:  JAMA       Date:  2004-01-28       Impact factor: 56.272

8.  Discovering fragile X syndrome: family experiences and perceptions.

Authors:  Donald B Bailey; Debra Skinner; Karen L Sparkman
Journal:  Pediatrics       Date:  2003-02       Impact factor: 7.124

Review 9.  Advances in the treatment of fragile X syndrome.

Authors:  Randi J Hagerman; Elizabeth Berry-Kravis; Walter E Kaufmann; Michele Y Ono; Nicole Tartaglia; Ave Lachiewicz; Rebecca Kronk; Carol Delahunty; David Hessl; Jeannie Visootsak; Jonathan Picker; Louise Gane; Michael Tranfaglia
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124

10.  Mood and anxiety disorders in females with the FMR1 premutation.

Authors:  Jane E Roberts; Donald B Bailey; Jean Mankowski; Amy Ford; John Sideris; Leigh Anne Weisenfeld; T Morgan Heath; Robert N Golden
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2009-01-05       Impact factor: 3.568
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  15 in total

1.  Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation.

Authors:  Robert F Berman; Karl D Murray; Gloria Arque; Michael R Hunsaker; H Jürgen Wenzel
Journal:  Epilepsia       Date:  2012-06       Impact factor: 5.864

2.  Broad clinical involvement in a family affected by the fragile X premutation.

Authors:  Weerasak Chonchaiya; Agustini Utari; Gabriela Marques Pereira; Flora Tassone; David Hessl; Randi J Hagerman
Journal:  J Dev Behav Pediatr       Date:  2009-12       Impact factor: 2.225

3.  An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

Authors:  Liangjing Chen; Andrew Hadd; Sachin Sah; Stela Filipovic-Sadic; Julie Krosting; Edward Sekinger; Ruiqin Pan; Paul J Hagerman; Timothy T Stenzel; Flora Tassone; Gary J Latham
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568

4.  Prevalence, nature, and correlates of sleep problems among children with fragile X syndrome based on a large scale parent survey.

Authors:  Rebecca Kronk; Ellen E Bishop; Melissa Raspa; Julie O Bickel; Daniel A Mandel; Donald B Bailey
Journal:  Sleep       Date:  2010-05       Impact factor: 5.849

Review 5.  Fragile X: a family of disorders.

Authors:  Weerasak Chonchaiya; Andrea Schneider; Randi J Hagerman
Journal:  Adv Pediatr       Date:  2009

6.  Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.

Authors:  Eric D Dodds; Flora Tassone; Paul J Hagerman; Carlito B Lebrilla
Journal:  Anal Chem       Date:  2009-07-01       Impact factor: 6.986

7.  Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation.

Authors:  Erik W Schluter; Michael R Hunsaker; Claudia M Greco; Rob Willemsen; Robert F Berman
Journal:  Brain Res       Date:  2012-07-11       Impact factor: 3.252

8.  Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.

Authors:  Eleanor M Eckert; Kelli C Dominick; Ernest V Pedapati; Logan K Wink; Rebecca C Shaffer; Howard Andrews; Tse-Hwei Choo; Chen Chen; Walter E Kaufmann; Nicole Tartaglia; Elizabeth M Berry-Kravis; Craig A Erickson
Journal:  J Autism Dev Disord       Date:  2019-11

9.  High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Authors:  Liangjing Chen; Andrew Hadd; Sachin Sah; Jeffrey F Houghton; Stela Filipovic-Sadic; Wenting Zhang; Paul J Hagerman; Flora Tassone; Gary J Latham
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

10.  A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.

Authors:  Marina Grasso; Elles M J Boon; Stela Filipovic-Sadic; Patrick A van Bunderen; Elena Gennaro; Ru Cao; Gary J Latham; Andrew G Hadd; Domenico A Coviello
Journal:  J Mol Diagn       Date:  2013-10-29       Impact factor: 5.568
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