Martine Doco-Fenzy
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Explore the profile of Martine Doco-Fenzy including associated specialties, affiliations and a list of published articles.
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60
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1173
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Recent Articles
1.
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, et al.
Med Sci (Paris)
. 2024 Oct;
40(10):767-769.
PMID: 39450962
No abstract available.
2.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Guyader G, Redon S, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63531.
PMID: 38421086
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with...
3.
Lancon A, Beaudouin A, Lambert L, Baurand A, Petit E, Schaefer E, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104841.
PMID: 37714374
Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In...
4.
Riquin K, Isidor B, Mercier S, Nizon M, Colin E, Bonneau D, et al.
J Med Genet
. 2023 Jul;
61(1):47-56.
PMID: 37495270
Background: Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs...
5.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1023-1031.
PMID: 37344571
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals...
6.
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, et al.
Front Cell Dev Biol
. 2023 Mar;
11:1021920.
PMID: 36926521
Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM (Online...
7.
Faqeih E, Alghamdi M, Almahroos M, Alharby E, Almuntashri M, Alshangiti A, et al.
Genet Med
. 2022 Nov;
25(2):100323.
PMID: 36401616
Purpose: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be...
8.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, et al.
Am J Med Genet A
. 2022 Nov;
191(2):445-458.
PMID: 36369750
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion...
9.
Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, et al.
Am J Med Genet A
. 2022 Oct;
191(1):52-63.
PMID: 36196855
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with...
10.
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, et al.
Clin Genet
. 2022 May;
102(2):98-109.
PMID: 35616059
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from...