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» Authors » Laetitia Monteil

Laetitia Monteil

Explore the profile of Laetitia Monteil including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 110
Followers 0
Related Specialties
Biochemistry
Molecular Biology
Health Services
Top 10 Co-Authors
Louis Bujan
Eric Bieth
Francois Isus
Roger Mieusset
Myriam Daudin
Isabelle Fauquet
Cecile Zordan
Nicolas Chassaing
Stanislas Faguer
Patrick Calvas
Published In
J Nephrol
J Community Genet
Int J Mol Sci
Am J Hum Genet
Andrology
Affiliations
Soon will be listed here.
Recent Articles
1.
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1
Mangin A, de Pontual L, Tsai Y, Monteil L, Nizon M, Boisseau P, et al.
Int J Mol Sci . 2021 Apr; 22(5). PMID: 33807660
Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the most severe...
2.
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
Cayrefourcq L, Vincent M, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, et al.
Sci Rep . 2020 Jun; 10(1):9861. PMID: 32555262
Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA...
3.
Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic
Mieusset R, Bieth E, Daudin M, Isus F, Delaunay B, Bujan L, et al.
Andrology . 2019 Dec; 8(3):645-653. PMID: 31872980
Background: Men with congenital unilateral absence of vas deferens were reported to be mainly azoospermic, with both unilateral renal absence and mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)...
4.
Evaluation of the template letter regarding the disclosure of genetic information within the family in France
Zordan C, Monteil L, Haquet E, Cordier C, Toussaint E, Roche P, et al.
J Community Genet . 2019 Mar; 10(4):489-499. PMID: 30919323
The 2011 French Bioethics Law regarding disclosure of genetic information within families enables health professionals to notify any at-risk relatives directly, with the patient's consent, using a template letter. To...
5.
Sperm aneuploidy and DNA fragmentation in unexplained recurrent pregnancy loss: a multicenter case-control study
Esquerre-Lamare C, Walschaerts M, Chansel Debordeaux L, Moreau J, Bretelle F, Isus F, et al.
Basic Clin Androl . 2018 Apr; 28:4. PMID: 29619224
Background: Recurrent pregnancy loss (RPL) is defined as the loss of at least three pregnancies in the first trimester. Although the most common cause is embryo aneuploidy, and despite female...
6.
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, et al.
Am J Hum Genet . 2016 Aug; 99(2):437-42. PMID: 27476656
In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene...
7.
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
Mieusset R, Fauquet I, Chauveau D, Monteil L, Chassaing N, Daudin M, et al.
J Nephrol . 2016 Mar; 30(2):211-218. PMID: 26946416
Background: While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined genital tract and renal abnormalities remain scarce, preventing adequate genetic counseling. Methods:...