N. Thibaud

发表

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.

G. Pinto, C. Gicquel, Y. Le Bouc, 2007, The Journal of clinical endocrinology and metabolism.

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Y. Le Bouc, M. Cuvelier, B. Isidor, 2019, Journal of Medical Genetics.

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

C. Gicquel, V. Barbu, S. Cabrol, 2005, Nature Genetics.

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Y. Le Bouc, J. Tost, F. Busato, 2014, Journal of Medical Genetics.

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.

L. Pasquier, S. Lyonnet, C. Gicquel, 2014, Human molecular genetics.

Complex Tissue‐Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

I. Netchine, S. Rossignol, S. Azzi, 2014, Human mutation.

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

A. Faussat, I. Netchine, S. Rossignol, 2013, Journal of Medical Genetics.

Russell Silver syndrome PCNA-binding domain as a cause of familial mutation affecting the CDKN 1 C

A. Faussat, I. Netchine, S. Rossignol, 2013 .

Normal Growth despite Combined Pituitary Hormone Deficiency

Y. Le Bouc, P. Leneuve, L. Périn, 2019, Hormone Research in Paediatrics.

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

C. Gicquel, Y. Le Bouc, S. Cabrol, 2009, Human molecular genetics.

Allele‐specific methylated multiplex real‐time quantitative PCR (ASMM RTQ‐PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

C. Gicquel, Y. Le Bouc, I. Netchine, 2011, Human mutation.

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

S. Chantot-Bastaraud, I. Netchine, S. Azzi, 2015, Journal of Medical Genetics.

Alu‐element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary

S. Amselem, I. Netchine, N. Thibaud, 2005, Human mutation.

Complex Tissue‐Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

I. Netchine, S. Rossignol, S. Azzi, 2014, Human mutation.