Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. (Q55057829)

16 June 2018

title

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. (English)

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16 June 2018

author name string

Siv Fokstuen

series ordinal

1

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16 June 2018

Dieter Kotzot

series ordinal

2

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16 June 2018

language of work or name

English

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publication date

24 March 2014

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

164A

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16 June 2018

issue

6

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16 June 2018

page(s)

1595-1605

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16 June 2018

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

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Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

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Deletion short arm 18 and Silver-Russell syndrome

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An interstitial deletion of chromosome 7 at band q21: a case report and review.

21 January 2018

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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

21 January 2018

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Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

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Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

21 January 2018

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Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

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Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

21 January 2018

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Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

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Ring 2 chromosome: ten-year follow-up report

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

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

21 January 2018

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

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Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome

21 January 2018

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

21 January 2018

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Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.

21 January 2018

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Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome

21 January 2018

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Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.

21 January 2018

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Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

21 January 2018

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Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype

21 January 2018

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Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36464

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16 June 2018

PubMed ID

24664587

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16 June 2018