A Genotype-Phenotype Study of High-Resolution

FMR1 FMRP PCR autism spectrum disorder fragile X syndrome

Journal

Brain sciences
ISSN: 2076-3425
Titre abrégé: Brain Sci
Pays: Switzerland
ID NLM: 101598646

Informations de publication

Date de publication:
30 Sep 2020
Historique:
received: 20 08 2020
revised: 25 09 2020
accepted: 25 09 2020
entrez: 3 10 2020
pubmed: 4 10 2020
medline: 4 10 2020
Statut: epublish

Résumé

Fragile X syndrome (FXS) is caused by silencing of the

Identifiants

pubmed: 33008014
pii: brainsci10100694
doi: 10.3390/brainsci10100694
pmc: PMC7601415
pii:
doi:

Types de publication

Journal Article

Langues

eng

Références

J Mol Diagn. 2008 Jan;10(1):43-9
pubmed: 18165273
Am J Med Genet A. 2013 Apr;161A(4):771-8
pubmed: 23444167
J Neurodev Disord. 2017 Jun 12;9:3
pubmed: 28616094
Neuropharmacology. 2011 Jun;60(7-8):1221-6
pubmed: 21108954
J Mol Diagn. 2013 Jul;15(4):508-17
pubmed: 23660422
J Mol Diagn. 2012 Nov;14(6):560-8
pubmed: 22921311
Neuron. 2019 Mar 20;101(6):1070-1088
pubmed: 30897358
Nat Neurosci. 2013 Nov;16(11):1530-6
pubmed: 23584741
J Mol Diagn. 2010 Sep;12(5):589-600
pubmed: 20616364
Am J Med Genet. 1999 May 28;84(3):233-9
pubmed: 10331599
Am J Med Genet A. 2014 May;164A(5):1198-203
pubmed: 24664669
Expert Rev Mol Diagn. 2017 Nov;17(11):1023-1032
pubmed: 28929824
J Assist Reprod Genet. 2018 Aug;35(8):1443-1455
pubmed: 29926373
Mol Brain. 2013 Apr 08;6:15
pubmed: 23566911
Transl Neurodegener. 2013 May 21;2(1):10
pubmed: 23692864
J Child Neurol. 2017 Sep;32(10):903-909
pubmed: 28617074
Am J Med Genet. 1999 Apr 2;83(4):286-95
pubmed: 10208163
Brain Sci. 2018 Dec 15;8(12):
pubmed: 30558274
J Neurodev Disord. 2014;6(1):24
pubmed: 25110527
J Neurodev Disord. 2014;6(1):16
pubmed: 26491488
Am J Hum Genet. 2013 Nov 7;93(5):825-39
pubmed: 24207117
Pediatrics. 2017 Jun;139(Suppl 3):S194-S206
pubmed: 28814540
Am J Med Genet. 1996 Aug 9;64(2):296-301
pubmed: 8844069
Clin Epigenetics. 2016 Dec 1;8:130
pubmed: 27980694
Brain Res. 2015 Jan 30;1596:22-30
pubmed: 25446451
J Neurodev Disord. 2011 Mar;3(1):57-67
pubmed: 21475730
Genet Med. 2011 Jun;13(6):528-538
pubmed: 21430544
BMC Med Genet. 2014 Oct 28;15:119
pubmed: 25348928
Nat Genet. 1994 Sep;8(1):88-94
pubmed: 7987398
Brain Res. 2018 Aug 15;1693(Pt A):24-36
pubmed: 29653083
Curr Opin Psychiatry. 2015 Mar;28(2):107-12
pubmed: 25602250
Ital J Pediatr. 2017 Apr 19;43(1):39
pubmed: 28420439
Dev Neuropsychol. 2013;38(7):445-60
pubmed: 24138215
Ment Retard Dev Disabil Res Rev. 2004;10(1):31-41
pubmed: 14994286
Am J Med Genet. 1999 Feb 5;88(1):11-24
pubmed: 10050961
Nature. 2012 Dec 20;492(7429):382-6
pubmed: 23235829
Am J Med Genet A. 2006 Sep 1;140A(17):1814-26
pubmed: 16906564
Genes (Basel). 2016 Dec 09;7(12):
pubmed: 27941672
Sci Rep. 2015 Mar 10;5:8902
pubmed: 25754735
Dev Neurosci. 2011;33(5):379-94
pubmed: 21893949
Brain Sci. 2019 Apr 27;9(5):
pubmed: 31035599
J Child Neurol. 2014 Sep;29(9):NP74-7
pubmed: 24065579
Clin Genet. 2012 Nov;82(5):472-7
pubmed: 21992468
Int J Pediatr. 2012;2012:843016
pubmed: 22899942
J Mol Diagn. 2012 Sep;14(5):476-86
pubmed: 22765921
Front Genet. 2014 Jul 29;5:244
pubmed: 25120560
Nucleic Acids Res. 2000 May 15;28(10):2141-52
pubmed: 10773084
Am J Med Genet. 1994 Jul 15;51(4):298-308
pubmed: 7942991
J Mol Diagn. 2014 Jan;16(1):23-31
pubmed: 24177047
J Neurodev Disord. 2017 Jun 12;9:14
pubmed: 28616097
Am J Med Genet. 1996 Aug 9;64(2):365-9
pubmed: 8844082
Am J Med Genet. 1996 Aug 9;64(2):309-12
pubmed: 8844071
PLoS One. 2019 Dec 31;14(12):e0226811
pubmed: 31891607
J Neurodev Disord. 2019 Dec 26;11(1):41
pubmed: 31878865
Am J Med Genet. 1999 May 28;84(3):240-4
pubmed: 10331600
Psychopharmacology (Berl). 2011 Jul;216(1):85-90
pubmed: 21318565
Am J Med Genet. 1994 Jul 15;51(4):509-12
pubmed: 7943031
Neuron. 2012 Apr 26;74(2):285-99
pubmed: 22542183
Genet Med. 2015 May;17(5):358-64
pubmed: 25210937
Neurosci Biobehav Rev. 2007;31(3):315-26
pubmed: 17097142
Nat Rev Dis Primers. 2017 Sep 29;3:17065
pubmed: 28960184
Front Genet. 2014 Sep 17;5:318
pubmed: 25278957
J Autism Dev Disord. 2019 Nov;49(11):4595-4602
pubmed: 31468273
Prenat Diagn. 2011 Oct;31(10):925-31
pubmed: 21717484
J Autism Dev Disord. 2012 Jul;42(7):1377-92
pubmed: 21972117
Clin Chem. 2010 Mar;56(3):399-408
pubmed: 20056738
J Clin Invest. 2012 Dec;122(12):4314-22
pubmed: 23202739

Auteurs

Dejan B Budimirovic (DB)

Departments of Psychiatry and Neurogenetics, Fragile X Clinic, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Department of Psychiatry & Behavioral Sciences-Child Psychiatry, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

Annette Schlageter (A)

Asuragen, Inc., Austin, TX 78744, USA.

Stela Filipovic-Sadic (S)

Asuragen, Inc., Austin, TX 78744, USA.

Dragana D Protic (DD)

Departments of Psychiatry and Neurogenetics, Fragile X Clinic, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
School of Medicine, University of Belgrade, 11000 Belgrade, Serbia.

Eran Bram (E)

Asuragen, Inc., Austin, TX 78744, USA.

E Mark Mahone (EM)

Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, MD 21205, USA.

Kimberly Nicholson (K)

Asuragen, Inc., Austin, TX 78744, USA.

Kristen Culp (K)

Asuragen, Inc., Austin, TX 78744, USA.

Kamyab Javanmardi (K)

Asuragen, Inc., Austin, TX 78744, USA.

Jon Kemppainen (J)

Asuragen, Inc., Austin, TX 78744, USA.

Andrew Hadd (A)

Asuragen, Inc., Austin, TX 78744, USA.

Kevin Sharp (K)

Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA.

Tatyana Adayev (T)

Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

Giuseppe LaFauci (G)

Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

Carl Dobkin (C)

Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

Lili Zhou (L)

Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA.

William Ted Brown (WT)

Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

Elizabeth Berry-Kravis (E)

Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA.
Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA.

Walter E Kaufmann (WE)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Gary J Latham (GJ)

Asuragen, Inc., Austin, TX 78744, USA.

Classifications MeSH