Frederic Brioude
Brioude, Frédéric 1978-...
VIAF ID: 206161862 (Personal)
Permalink: http://viaf.org/viaf/206161862
Preferred Forms
- 100 1 _ ‡a Brioude, Frédéric, ‡d 1978-....
- 100 1 _ ‡a Brioude, Frédéric ‡d 1978-...
- 100 0 _ ‡a Frederic Brioude
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
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Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance | |
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. | |
CDKN1C mutations: two sides of the same coin. | |
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. | |
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. | |
Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome. | |
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome | |
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation | |
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients. | |
craniopharyngioma in children : initial description and outcome of patients followed in Rennes'University Hospital. | |
Craniopharyngiome de l'enfant : tableau initial et suivi évolutif des patients suivis au CHU de Rennes | |
Diagnosis and management of postnatal fetal growth restriction | |
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. | |
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 | |
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction | |
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. | |
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome. | |
[Hypogonadotropic hypogonadism: new aspects in the regulation of hypothalamic-pituitary-gonadal axis] | |
Imprinted disorders and growth. | |
Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy? | |
[Is there a relationship between the growth hormone dose and tumoral or cardiovascular complications?] | |
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. | |
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization | |
Nomenclature and definition in asymmetric regional body overgrowth. | |
Overgrowth syndromes - clinical and molecular aspects and tumour risk | |
Pathologies de la croissance fœtale (syndromes de Beckwith Wiedemann et Silver Russell) : implication de la protéine CDKN1C et autres mécanismes moléculaires | |
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. | |
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. | |
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development | |
Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study. | |
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. | |
Study of the Factors Leading to Fetal and Neonatal Dysthyroidism in Children of Patients With Graves Disease. | |
Transcriptional profiling at the domain explains clinical overlap between imprinting disorders | |
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation |