Silver-Russell syndrome: genetic basis and molecular genetic testing - Test2 - elhamkhani - TriplyDB

Silver-Russell syndrome: genetic basis and molecular genetic testing

Silver-Russell syndrome: genetic basis and molecular genetic testing

http://www.wikidata.org/entity/Q21202882

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DNA methylation biomarkers: cancer and beyond Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology Genetic syndromes associated with overgrowth in childhood.No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age.Epigenetic and genetic diagnosis of Silver-Russell syndrome.3M syndrome: a report of four cases in two families POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.New developments in Silver-Russell syndrome and implications for clinical practice 2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome.A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.The increasing complexity of the oncofetal h19 gene locus: functional dissection and therapeutic intervention.Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Role of DNA methylation in imprinting disorders: an updated review.Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome.Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome.Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

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Silver-Russell syndrome: genetic basis and molecular genetic testing

http://www.wikidata.org/entity/Q21202882

description

2010 nî lūn-bûn

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2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2010 թվականի հունիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Orphanet Journal of Rare Diseases

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Silver-Russell syndrome: genetic basis and molecular genetic testing

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Gerhard Binder

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Matthias Begemann

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Sabrina Spengler

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Thomas Eggermann

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Creative Commons Attribution 2.0 Generic

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ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.

Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.

Maternal uniparental disomy 7 in Silver-Russell syndrome.

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

Placental-specific IGF-II is a major modulator of placental and fetal growth.

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

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10.1186/1750-1172-5-19

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Silver-Russell syndrome

growth disorder

genetic variation

regulation of gene expression

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