Publications by authors named "Louise Gane"

28Publications

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.

Transl Psychiatry 2020 06 23;10(1):205. Epub 2020 Jun 23.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA, USA.

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http://dx.doi.org/10.1038/s41398-020-00863-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311546PMC
June 2020

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Pediatrics 2017 Jun;139(Suppl 3):S216-S225

Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1542/peds.2016-1159HDOI Listing
June 2017

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.

Front Neurosci 2016 19;10:159. Epub 2016 Apr 19.

Department of Molecular Biosciences, School of Veterinary MedicineDavis, CA, USA; Medical Investigations of Neurodevelopmental Disorders Institute, University of California, DavisDavis, CA, USA.

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http://dx.doi.org/10.3389/fnins.2016.00159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835505PMC
May 2016

Identification of a male with fragile X syndrome through newborn screening.

Intractable Rare Dis Res 2015 Nov;4(4):198-202

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, USA ; MIND Institute, University of California, Davis, Medical Center, Sacramento, USA.

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http://dx.doi.org/10.5582/irdr.2015.01031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660861PMC
November 2015

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.

Pediatrics 2015 Aug 13;136(2):e433-40. Epub 2015 Jul 13.

Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2015-0414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516945PMC
August 2015

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Am J Med Genet A 2015 Sep 29;167A(9):2154-61. Epub 2015 Apr 29.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.37125DOI Listing
September 2015

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.

Genome Med 2012 21;4(12):100. Epub 2012 Dec 21.

MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA ; Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1186/gm401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064316PMC
August 2014

Newborn screening and cascade testing for FMR1 mutations.

Am J Med Genet A 2013 Jan 13;161A(1):59-69. Epub 2012 Dec 13.

University of California Davis Medical Center, Sacramento, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980469PMC
January 2013

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

Genet Med 2012 Aug 12;14(8):729-36. Epub 2012 Apr 12.

Department of Biochemistry and Molecular Medicine, University of California-Davis School of Medicine, Davis, California, USA.

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http://dx.doi.org/10.1038/gim.2012.34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990283PMC
August 2012

A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.

Am J Med Genet A 2012 May 9;158A(5):1221-4. Epub 2012 Apr 9.

MIND Institute, University of California at Davis Medical Center, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1002/ajmg.a.35293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331966PMC
May 2012

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.

Am J Med Genet A 2011 Mar 22;155A(3):519-25. Epub 2011 Feb 22.

Department of Biochemistry and Molecular Medicine, University of California-Davis School of Medicine, 95616, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33446
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http://dx.doi.org/10.1002/ajmg.a.33446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568664PMC
March 2011

Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome by utilizing Q-sort methodology.

Aging Ment Health 2010 Nov;14(8):1000-7

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, Sacramento, CA, USA.

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http://dx.doi.org/10.1080/13607863.2010.501066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189491PMC
November 2010

A review of fragile X premutation disorders: expanding the psychiatric perspective.

J Clin Psychiatry 2009 Jun 5;70(6):852-62. Epub 2009 May 5.

Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.4088/JCP.08m04476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2705685PMC
June 2009

Two boys with fragile x syndrome and hepatic tumors.

J Pediatr Hematol Oncol 2008 Mar;30(3):239-41

Medical Investigation of Neurodevelopmental Disorders , University of California Davis Health System, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1097/MPH.0b013e31815f88c9DOI Listing
March 2008

A girl with fragile X premutation from sperm donation.

Am J Med Genet A 2008 Apr;146A(7):888-92

MIND Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1002/ajmg.a.31876DOI Listing
April 2008

Fragile X syndrome with anxiety disorder and exceptional verbal intelligence.

Am J Med Genet A 2008 Feb;146A(3):376-9

M.I.N.D. Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1002/ajmg.a.32118DOI Listing
February 2008

Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.

Am J Med Genet A 2007 Oct;143A(19):2256-60

Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1002/ajmg.a.31920DOI Listing
October 2007

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

J Dev Behav Pediatr 2006 Apr;27(2 Suppl):S137-44

Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California, Davis, CA, USA.

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http://dx.doi.org/10.1097/00004703-200604002-00012DOI Listing
April 2006

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.

J Clin Psychiatry 2006 Jan;67(1):87-94

M.I.N.D. Institute, and Departments of Psychiatry and Behavioral Sciences, UCDavis Medical Center, University of California-Davis, 2230 Stockton Boulevard, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.4088/jcp.v67n0112DOI Listing
January 2006

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.

Am J Med Genet B Neuropsychiatr Genet 2005 Nov;139B(1):115-21

Medical Investigation of Neurodevelopmental Disorders Institute, University of California-Davis Medical Center, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1002/ajmg.b.30241DOI Listing
November 2005

Autistic spectrum disorder and the fragile X premutation.

J Dev Behav Pediatr 2004 Dec;25(6):392-8

M.I.N.D. Institute, Department of Psychiatry and Behavioral Sciences, UCDHS, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1097/00004703-200412000-00002DOI Listing
December 2004