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» Authors » Gwenael Nadeau

Gwenael Nadeau

Explore the profile of Gwenael Nadeau including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 13
Citations 183
Followers 0
Related Specialties
Genetics
Molecular Biology
Pathology
Top 10 Co-Authors
Damien Sanlaville
Patrick Edery
Caroline Schluth-Bolard
Veronique Satre
Nicole Philip
Chantal Missirian
Massimiliano Rossi
Alain Verloes
Marie-Pierre Cordier
Charles Coutton
Published In
J Med Genet
Am J Med Genet A
Genes Chromosomes Cancer
Am J Hematol
Andrology
Affiliations
Soon will be listed here.
Recent Articles
1.
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, et al.
Circ Genom Precis Med . 2023 Dec; 17(1):e004285. PMID: 38059363
Background: Few clinical data are available on mutation carriers, and the gene's involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence...
2.
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, et al.
Andrology . 2022 Aug; 10(8):1625-1631. PMID: 36026611
Background: The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly because of non-allelic homologous recombination between...
3.
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
Janin A, Perouse de Montclos T, Nguyen K, Consolino E, Nadeau G, Rey G, et al.
Mol Diagn Ther . 2022 Jul; 26(5):551-560. PMID: 35838873
Background And Objective: Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present...
4.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients
Lehalle D, Bruel A, Vitobello A, Denomme-Pichon A, Duffourd Y, Assoum M, et al.
Am J Med Genet A . 2022 Apr; 188(7):2036-2047. PMID: 35445792
Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL),...
5.
A novel synonymous variant in exon 1 of gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family
Apetrei A, Molin A, Gruchy N, Godin M, Bracquemart C, Resbeut A, et al.
Bone Rep . 2021 May; 14:101073. PMID: 33997150
Introduction: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or paternal allele,...
6.
Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features
Penther D, Etancelin P, Lusina D, Bidet A, Quilichini B, Gaillard B, et al.
Am J Hematol . 2019 Aug; 94(11):E285-E288. PMID: 31379011
No abstract available.
7.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier P, Bardel C, Afenjar A, et al.
J Med Genet . 2019 Mar; 56(8):526-535. PMID: 30923172
Background: Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation...
8.
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
Mortreux J, Busa T, Germain D, Nadeau G, Puechberty J, Coubes C, et al.
Eur J Hum Genet . 2017 Dec; 26(1):143-148. PMID: 29187737
Introduction: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in...
9.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, et al.
Am J Med Genet A . 2016 Sep; 170(11):2847-2859. PMID: 27605097
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected...
10.
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
Schluth-Bolard C, Labalme A, Cordier M, Till M, Nadeau G, Tevissen H, et al.
J Med Genet . 2013 Jan; 50(3):144-50. PMID: 23315544
Background: Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances or to the disruption of genes...