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Human Mutation
|
July 23, 2011
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects
Julie Demars, Sylvie Rossignol, Irène Netchine, et al.
Human Mutation
|
July 22, 2014
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation
Salah Azzi, Annick Blaise, Virginie Steunou, et al.
Human Molecular Genetics
|
June 12, 2014
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome
Walid Abi Habib, Salah Azzi, Frédéric Brioude, et al.
Journal of Medical Genetics
|
December 11, 2017
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 17, 2007
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations
Irène Netchine, Sylvie Rossignol, Marie-Noëlle Dufourg, et al.
Journal of Medical Genetics
|
October 7, 2019
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patients
Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 17, 2018
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, et al.
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of 3
Search research articles
Search
Showing results (21-30 of 27) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 27 results.
Human Mutation
|
July 23, 2011
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects
Julie Demars, Sylvie Rossignol, Irène Netchine, et al.
Human Mutation
|
July 22, 2014
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation
Salah Azzi, Annick Blaise, Virginie Steunou, et al.
Human Molecular Genetics
|
June 12, 2014
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome
Walid Abi Habib, Salah Azzi, Frédéric Brioude, et al.
Journal of Medical Genetics
|
December 11, 2017
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 17, 2007
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations
Irène Netchine, Sylvie Rossignol, Marie-Noëlle Dufourg, et al.
Journal of Medical Genetics
|
October 7, 2019
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patients
Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 17, 2018
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, et al.
Page
of 3