Marc-Antoine Belaud-Rotureau
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Explore the profile of Marc-Antoine Belaud-Rotureau including associated specialties, affiliations and a list of published articles.
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66
Citations
898
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Recent Articles
1.
Lokchine A, Bergougnoux A, Servant N, Akloul L, Launay E, Mary L, et al.
Am J Med Genet A
. 2024 Nov;
197(3):e63924.
PMID: 39497500
Follicle stimulating hormone (FSH) is a key pituitary gonadotropic hormone implicated in human fertility and is crucial for folliculogenesis and recruitment of new antral follicles. Variations in its receptor, FSHR,...
2.
Mary L, Leclerc D, Labalme A, Bellaud P, Mazaud-Guittot S, Dreano S, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833200
Sexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed...
3.
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, et al.
CRISPR J
. 2023 Jan;
6(1):17-31.
PMID: 36629845
Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in gene. These variants result in reduced β-galactosidase (β-gal) activity, leading to...
4.
Neyroud A, Rudinger-Thirion J, Frugier M, Riley L, Bidet M, Akloul L, et al.
Eur J Hum Genet
. 2022 Nov;
31(4):453-460.
PMID: 36450801
Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these...
5.
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...
6.
Tucker E, Gutfreund N, Belaud-Rotureau M, Gilot D, Brun T, Kline B, et al.
Hum Mutat
. 2022 Jul;
43(10):1443-1453.
PMID: 35801529
Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated follicle-stimulating hormone before age 40. It is highly heterogeneous with variants in over...
7.
Toujani S, Tucker E, Akloul L, Mary L, Pimentel C, Launay E, et al.
Cytogenet Genome Res
. 2022 May;
162(3):124-131.
PMID: 35609520
Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies are validated genetic factors leading to spermatogenic quantitative defects, with a frequency depending on the...
8.
Kammerer-Jacquet S, Gandon C, Dugay F, Laguerre B, Peyronnet B, Mathieu R, et al.
Histopathology
. 2022 May;
81(2):228-238.
PMID: 35562857
Aims: First described in 2014, renal cell carcinoma (RCC) with TFEB amplification (6p21) is a rare molecular subgroup whose diagnosis is challenging. The prognosis and therapeutic implications remain unclear. Methods:...
9.
Mary L, Leclerc D, Gilot D, Belaud-Rotureau M, Jaillard S
Hum Mutat
. 2022 Apr;
43(9):1125-1148.
PMID: 35451537
PBX1 is a highly conserved atypical homeodomain transcription factor (TF) belonging to the TALE (three amino acid loop extension) family. Dimerized with other TALE proteins, it can interact with numerous...
10.
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne A, et al.
Eur J Med Genet
. 2022 Jan;
65(2):104422.
PMID: 35026468
The 22q11 region is prone to generating recurring Copy Number Variations (CNVs) as a result of the large numbers of Low Copy Repeats (LCRs). Typical duplications encompass the LCR-A-to-D region...