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Page 1
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, Badreddine A, Derhourhi M, Mouhoub TA, Jouret G, Juttet P, Souchon PF, Vaxillaire M, Froguel P, Bonnefond A, Doco Fenzy M. Le Collen L, et al. Among authors: doco fenzy m. Orphanet J Rare Dis. 2022 Feb 28;17(1):86. doi: 10.1186/s13023-022-02248-2. Orphanet J Rare Dis. 2022. PMID: 35227307 Free PMC article.
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium. Maillard AM, et al. Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25. Mol Psychiatry. 2015. PMID: 25421402 Free PMC article.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Lançon A, Beaudouin A, Lambert L, Baurand A, Petit E, Schaefer E, Poirsier C, Piard J, Patay L, Garde A, Bournez M, Bertolone G, Kastner C, Tempé L, El Chehadeh S, Spodenkiewick M, Lissy L, Doco-Fenzy M, Cabrol C, Trouvé C, Brischoux EB, Cloteau M, Burtin A, Renaud M, Riviere A, Thomas Q, De Souza CS, Sawka C, Racine C, Robert M, Gautier E, Delanne J, Bertaut A, Thauvin-Robinet C, Faivre L, Nambot S. Lançon A, et al. Among authors: doco fenzy m. Eur J Med Genet. 2023 Oct;66(10):104841. doi: 10.1016/j.ejmg.2023.104841. Epub 2023 Sep 14. Eur J Med Genet. 2023. PMID: 37714374
Early childhood-onset cutaneous xanthomatosis revealing familial hypercholesterolemia.
Marchal V, Souchon PF, Bednarek N, De Aquino A, Landais E, Doco-Fenzy M, Viguier M, Gusdorf L. Marchal V, et al. Among authors: doco fenzy m. Ann Dermatol Venereol. 2023 Sep;150(3):238-240. doi: 10.1016/j.annder.2023.02.004. Epub 2023 Apr 21. Ann Dermatol Venereol. 2023. PMID: 37088684 No abstract available.
Cytogenetic characterization of chromosomal rearrangement in a human vinblastine-resistant CEM cell line: use of comparative genomic hybridization and fluorescence in situ hybridization.
Struski S, Cornillet-Lefebvre P, Doco-Fenzy M, Dufer J, Ulrich E, Masson L, Michel N, Gruson N, Potron G. Struski S, et al. Among authors: doco fenzy m. Cancer Genet Cytogenet. 2002 Jan 1;132(1):51-4. doi: 10.1016/s0165-4608(01)00519-2. Cancer Genet Cytogenet. 2002. PMID: 11801309
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
Doco-Fenzy M, Landais E, Andrieux J, Schneider A, Delemer B, Sulmont V, Melin JP, Ploton D, Thevenard J, Monboisse JC, Belouadah M, Lefebvre F, Durlach A, Goossens M, Albuisson J, Motte J, Gaillard D. Doco-Fenzy M, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):598-607. doi: 10.1016/j.ejmg.2008.08.002. Epub 2008 Sep 6. Eur J Med Genet. 2008. PMID: 18822396
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS. Jouret G, et al. Among authors: doco fenzy m. Otol Neurotol. 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. Otol Neurotol. 2019. PMID: 30531642
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M, Spodenkiewicz M, Cleary M, Massier M, Fitsialos G, Cottin V, Jouret G, Poirsier C, Doco-Fenzy M, Lèbre AS. Spodenkiewicz M, et al. Among authors: doco fenzy m. Biology (Basel). 2020 May 21;9(5):108. doi: 10.3390/biology9050108. Biology (Basel). 2020. PMID: 32455636 Free PMC article. Review.
105 results