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1. 脆弱Ｘ症候群の出生前スクリーニングおよび診断 prenatal screening and diagnosis for fragile x syndrome

English Journal

Genetics of premature ovarian failure.

Bilgin EM1, Kovanci E.
Current opinion in obstetrics & gynecology.Curr Opin Obstet Gynecol.2015 Jun;27(3):167-74. doi: 10.1097/GCO.0000000000000177.
PURPOSE OF REVIEW: To provide an overview on the genetic basis of premature ovarian failure (POF) with specific attention to recently published molecular genetic studies.RECENT FINDINGS: POF is an insidious cause of female infertility. Despite enormous efforts to understand the genetic pathogenesis,
PMID 25919233

Fragile X premutation carriers: A systematic review of neuroimaging findings.

Brown SS1, Stanfield AC2.
Journal of the neurological sciences.J Neurol Sci.2015 May 15;352(1-2):19-28. doi: 10.1016/j.jns.2015.03.031. Epub 2015 Mar 27.
BACKGROUND: Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the fragile X premutation may develop a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). Rec
PMID 25847019

Emergency department and inpatient hospitalizations for young people with fragile x syndrome.

McDermott S, Hardin JW, Royer JA, Mann JR, Tong X, Ozturk OD, Ouyang L.
American journal on intellectual and developmental disabilities.Am J Intellect Dev Disabil.2015 May;120(3):230-43. doi: 10.1352/1944-7558-120.3.230.
We compared hospital encounters between adolescents and young adults with fragile X syndrome (FXS) to peers with intellectual disability (ID) from other causes, autism spectrum disorder (ASD), and a comparison group without these conditions matched by gender, age, and insurance coverage. Those with
PMID 25928435

Japanese Journal

A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination

Ehara Hiroaki,Ohtani Kyoichi,Yamamoto Toshiyuki,Ohno Kousaku,Takeshita Kenzo,Kanemura Yonehiro,Yamasaki Mami
Yonago Acta medica 49(3), 77-82, 2006-09
… Fragile X (FRAXA), fragile XE (FRAXE), proteolipid protein and L1 cell adhesion molecule (L1CAM) genes were normal. …
NAID 120001352374

Comparative Cytogenetic and PCR Studies in Fragile X Syndrome

GAMBARINI Greicy H. R.,DELLA-ROSA Valter A.,MORAES Ana Maria S. Machado de
Cytologia : international journal of cytology 70(3), 233-237, 2005-09-30
NAID 10016378028

Comparative Cytogenetic and PCR Studies in Fragile X Syndrome

Gambarini Greicy H. R.,Della-Rosa Valter A.,Machado de Moraes Ana Maria S.
CYTOLOGIA 70(3), 233-237, 2005
… Results from cytogenetic and molecular studies by Polymerase Chain Reaction (PCR) techniques in 34 patients suspected of fragile X syndrome (FRAXA) are compared. … Although PCR technique guaranteed fast FRAXA search, the cytogenetic study was as efficient as the PCR technique to diagnose fragile chromosome X syndrome in mentally retarded subjects. …
NAID 130004447885

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