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Francine Arbez-Gindre

Explore the profile of Francine Arbez-Gindre including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 322
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Recent Articles
1.
Favier M, Brischoux-Boucher E, Pyle L, Mottet N, Auber-Lenoir M, Cattin J, et al.
Prenat Diagn . 2024 Nov; 44(13):1647-1658. PMID: 39542847
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have...
2.
Zver T, Frontczak S, Poirot C, Rives-Feraille A, Leroy-Martin B, Koscinski I, et al.
J Ovarian Res . 2022 Jan; 15(1):9. PMID: 35042558
Background: Cryopreservation of ovarian tissue is a fertility-preservation option for women before gonadotoxic treatments. However, cryopreserved ovarian tissue transplantation must be performed with caution in women with malignancies that may...
3.
Melo U, Piard J, Fischer-Zirnsak B, Klever M, Schopflin R, Mensah M, et al.
Hum Genet . 2021 Aug; 140(10):1459-1469. PMID: 34436670
During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal...
4.
Lefebvre M, Bruel A, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, et al.
J Med Genet . 2020 Aug; 58(6):400-413. PMID: 32732226
Purpose: Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far...
5.
Mottet N, Cabrol C, Metz J, Toubin C, Arbez-Gindre F, Valduga M, et al.
Eur J Med Genet . 2018 Sep; 62(9):103539. PMID: 30240710
A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia...
6.
Mottet N, Chaussy Y, Auber F, Guimiot F, Arbez-Gindre F, Riethmuller D, et al.
J Ultrasound Med . 2018 Jan; 37(7):1807-1820. PMID: 29377253
The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for...
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Luquain A, Arbez-Gindre F, Bedgedjian I, Felix S, Harimenshi J, Mihai I, et al.
Ann Pathol . 2016 Jul; 36(4):268-74. PMID: 27474532
Before molecular analysis is performed, morphological control with an estimation of the tumour cell percentage (%TC) could have a major impact on mutation detection. Accreditation according to NF EN ISO ...
9.
Boustani J, Kim S, Lescut N, Lakkis Z, De Billy M, Arbez-Gindre F, et al.
Am J Case Rep . 2015 Sep; 16:581-5. PMID: 26322720
Background: Rectal linitis plastica (RLP) is a rare disease with poor outcome. It is often accompanied by a delayed histopathological diagnosis, primarily due to submucosal disease. A concentric ring pattern...
10.
Grenouillet F, Umhang G, Arbez-Gindre F, Mantion G, Delabrousse E, Millon L, et al.
Emerg Infect Dis . 2014 Nov; 20(12):2100-2. PMID: 25417697
In 2011 and 2012, liver infections caused by Echinococcus ortleppi tapeworms were diagnosed in 2 humans in France. In 2012, a nationwide slaughterhouse survey identified 7 E. ortleppi infections in...