Nijmegen syndrome

ナイミーヘン症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. an industrial city in the eastern Netherlands

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

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• 1. ナイミーヘン染色体不安定症候群 nijmegen breakage syndrome
• 2. 症候群をきたす免疫不全症 syndromic immunodeficiencies
• 3. 高IgM症候群 hyperimmunoglobulin m syndromes
• 4. 原発性免疫不全症における悪性腫瘍 malignancy in primary immunodeficiency
• 5. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults

English Journal

• Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.

• Bertelsen B1, Stefánsson H2, Riff Jensen L3, Melchior L1, Mol Debes N4, Groth C4, Skov L4, Werge T5, Karagiannidis I6, Tarnok Z1, Barta C7, Nagy P8, Farkas L8, Brøndum-Nielsen K1, Rizzo R9, Gulisano M9, Rujescu D10, Kiemeney LA11, Tosato S12, Nawaz MS2, Ingason A2, Unnsteinsdottir U2, Steinberg S2, Ludvigsson P13, Stefansson K2, Kuss AW3, Paschou P6, Cath D14, Hoekstra PJ15, Müller-Vahl K16, Stuhrmann M16, Silahtaroglu A17, Pfundt R18, Tümer Z19.
• Biological psychiatry.Biol Psychiatry.2016 Mar 1;79(5):383-91. doi: 10.1016/j.biopsych.2015.08.027. Epub 2015 Sep 3.
• BACKGROUND: Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon-a
• PMID 26444075

• De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

• Reijnders MR1, Zachariadis V2, Latour B3, Jolly L4, Mancini GM5, Pfundt R1, Wu KM3, van Ravenswaaij-Arts CM6, Veenstra-Knol HE6, Anderlid BM7, Wood SA8, Cheung SW9, Barnicoat A10, Probst F9, Magoulas P9, Brooks AS5, Malmgren H7, Harila-Saari A11, Marcelis CM1, Vreeburg M12, Hobson E13, Sutton VR9, Stark Z14, Vogt J15, Cooper N16, Lim JY17, Price S18, Lai AH17, Domingo D19, Reversade B20; DDD Study, Gecz J4, Gilissen C1, Brunner HG21, Kini U18, Roepman R22, Nordgren A7, Kleefstra T23.
• American journal of human genetics.Am J Hum Genet.2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.
• Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo los
• PMID 26833328

• Clinical delineation of the PACS1-related Syndrome-Report on 19 Patients.

• Schuurs-Hoeijmakers JH1, Landsverk ML2, Foulds N3,4, Kukolich MK5, Gavrilova RH6,7, Greville-Heygate S3,4, Hanson-Kahn A8,9, Bernstein JA9, Glass J10, Chitayat D11,12, Burrow TA10,13, Husami A10, Collins K10, Wusik K10, van der Aa N14, Kooy F14, Brown KT15, Gadzicki D16, Kini U17, Alvarez S18, Fernández-Jaén A19,20, McGehee F21, Selby K22,23, Tarailo-Graovac M24, Van Allen M25, van Karnebeek CD24, Stavropoulos DJ26, Marshall CR26, Merico D27, Gregor A28, Zweier C28, Hopkin RJ10, Chu YW29, Chung BH29, de Vries BB1, Devriendt K30; DDD study, Hurles ME31, Brunner HG1.
• American journal of medical genetics. Part A.Am J Med Genet A.2016 Feb 3. doi: 10.1002/ajmg.a.37476. [Epub ahead of print]
• We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched eyebrows, hypertelorism with downslanting palpe
• PMID 26842493

Japanese Journal

• Regulatory interaction between NBS1 and DNMT1 responding to DNA damage

• The journal of biochemistry 154(5), 429-435, 2013-11
• NAID 120005373519

• Clinical Features Differ Substantially Between Caucasian and Asian Populations of Marfan Syndrome

• Circulation journal : official journal of the Japanese Circulation Society 77(11), 2793-2798, 2013-10-25
• NAID 10031196833

• Role of NBS1 in DNA damage response and its relationship with cancer development

• Translational Cancer Research 2(3), 178-189, 2013-06
• NAID 120005300469

Related Links

• Nijmegen Breakage Syndrome: Background ...

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive condition of chromosomal instability that is clinically characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency ...

• Nijmegen breakage syndrome - Genetics Home Reference

Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer ...

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★リンクテーブル★

リンク元	「ナイミーヘン症候群」
関連記事	「syndrome」

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英

Nijmegen syndrome

同

ナイミーヘン染色体不安定症候群、Nijmegen染色体不安定症候群、Nijmegen breakage症候群　Nijmegen breakage syndrome

関

分子放射線生物学

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ナイミーヘン染色体不安定症候群 : 37 件

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