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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Published in:
2019
By:
- Guterman, Sarah;
- Beneteau, Claire;
- Redon, Sylvia;
- Dupont, Céline;
- Missirian, Chantal;
- Jaeger, Pauline;
- Herve, Berenice;
- Jacquin, Clémence;
- Douet‐Guilbert, Nathalie;
- Till, Marianne;
- Tabet, Anne‐Claude;
- Moradkhani, Kamran;
- Malan, Valérie;
- Doco‐Fenzy, Martine;
- Vialard, François;
- Douet-Guilbert, Nathalie;
- Tabet, Anne-Claude;
- Doco-Fenzy, Martine
Publication type:
journal article
Investigation of Nonimmune Hydrops Fetalis: Multidisciplinary Studies Are Necessary for Diagnosis-Review of 94 Cases.
Published in:
Pediatric & Developmental Pathology, 1999, v. 2, n. 5, p. 432, doi. 10.1007/s100249900146
By:
- Lallemand, Aude V.;
- Doco-Fenzy, Martine;
- Gaillard, Dominique A.
Publication type:
Article
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Published in:
2016
By:
- Calmels, Nadège;
- Greff, Géraldine;
- Obringer, Cathy;
- Kempf, Nadine;
- Gasnier, Claire;
- Tarabeux, Julien;
- Miguet, Marguerite;
- Baujat, Geneviève;
- Bessis, Didier;
- Bretones, Patricia;
- Cavau, Anne;
- Digeon, Béatrice;
- Doco-Fenzy, Martine;
- Doray, Bérénice;
- Feillet, François;
- Gardeazabal, Jesus;
- Gener, Blanca;
- Julia, Sophie;
- Llano-Rivas, Isabel;
- Mazur, Artur
Publication type:
journal article
3q29 duplications: A cohort of 46 patients and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
By:
- Massier, Marie;
- Doco‐Fenzy, Martine;
- Egloff, Matthieu;
- Le Guillou, Xavier;
- Le Guyader, Gwenaël;
- Redon, Sylvia;
- Benech, Caroline;
- Le Millier, Karine;
- Uguen, Kevin;
- Ropars, Juliette;
- Sacaze, Elise;
- Audebert‐Bellanger, Séverine;
- Apetrei, Andreea;
- Molin, Arnaud;
- Gruchy, Nicolas;
- Vincent‐Devulder, Aline;
- Spodenkiewicz, Marta;
- Jacquin, Clémence;
- Loron, Gauthier;
- Thibaud, Marie
Publication type:
Article
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 937, doi. 10.1002/ajmg.a.62050
By:
- Beaudoux, Olivia;
- Lebre, Anne‐Sophie;
- Doco Fenzy, Martine;
- Spodenkiewicz, Marta;
- Canivet, Eric;
- Colosio, Charlotte;
- Poirsier, Céline
Publication type:
Article
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1275, doi. 10.1002/ajmg.a.36995
By:
- Landais, Emilie;
- Leroy, Camille;
- Kleinfinger, Pascale;
- Brunet, Stéphanie;
- Koubi, Valérie;
- Pietrement, Christine;
- Poli‐Mérol, Marie‐Laurence;
- Fiquet, Caroline;
- Souchon, Pierre‐François;
- Beri, Mylène;
- Jonveaux, Philippe;
- Garnotel, Roselyne;
- Gaillard, Dominique;
- Doco‐Fenzy, Martine
Publication type:
Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
By:
- Doco-Fenzy, Martine;
- Leroy, Camille;
- Schneider, Anouck;
- Petit, Florence;
- Delrue, Marie-Ange;
- Andrieux, Joris;
- Perrin-Sabourin, Laurence;
- Landais, Emilie;
- Aboura, Azzedine;
- Puechberty, Jacques;
- Girard, Manon;
- Tournaire, Magali;
- Sanchez, Elodie;
- Rooryck, Caroline;
- Ameil, Agnès;
- Goossens, Michel;
- Jonveaux, Philippe;
- Lefort, Geneviève;
- Taine, Laurence;
- Cailley, Dorothée
Publication type:
Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
By:
- Lyle, Robert;
- Béna, Frédérique;
- Gagos, Sarantis;
- Gehrig, Corinne;
- Lopez, Gipsy;
- Schinzel, Albert;
- Lespinasse, James;
- Bottani, Armand;
- Dahoun, Sophie;
- Taine, Laurence;
- Doco-Fenzy, Martine;
- Cornillet-Lefèbvre, Pascale;
- Pelet, Anna;
- Lyonnet, Stanislas;
- Toutain, Annick;
- Colleaux, Laurence;
- Horst, Jürgen;
- Kennerknecht, Ingo;
- Wakamatsu, Nobuaki;
- Descartes, Maria
Publication type:
Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
By:
- Schneider, Anouck;
- Benzacken, Brigitte;
- Guichet, Agnès;
- Verloes, Alain;
- Bonneau, Dominique;
- Collot, Nathalie;
- Dastot-Le-Moal, Florence;
- Goossens, Michel;
- Taine, Laurence;
- Landais, Emilie;
- Gaillard, Dominique;
- Doco-Fenzy, Martine
Publication type:
Article
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Published in:
2022
By:
- Le Collen, Lauriane;
- Delemer, Brigitte;
- Spodenkiewicz, Marta;
- Cornillet Lefebvre, Pascale;
- Durand, Emmanuelle;
- Vaillant, Emmanuel;
- Badreddine, Alaa;
- Derhourhi, Mehdi;
- Mouhoub, Tarik Ait;
- Jouret, Guillaume;
- Juttet, Pauline;
- Souchon, Pierre François;
- Vaxillaire, Martine;
- Froguel, Philippe;
- Bonnefond, Amélie;
- Doco Fenzy, Martine
Publication type:
journal article
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Published in:
Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165
By:
- Christensen, Maria B.;
- Levy, Amanda M.;
- Mohammadi, Nazanin A.;
- Niceta, Marcello;
- Kaiyrzhanov, Rauan;
- Dentici, Maria Lisa;
- Al Alam, Chadi;
- Alesi, Viola;
- Benoit, Valérie;
- Bhatia, Kailash P.;
- Bierhals, Tatjana;
- Boßelmann, Christian M.;
- Buratti, Julien;
- Callewaert, Bert;
- Ceulemans, Berten;
- Charles, Perrine;
- De Wachter, Matthias;
- Dehghani, Mohammadreza;
- D'haenens, Erika;
- Doco‐Fenzy, Martine
Publication type:
Article
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
By:
- Salian, Smrithi;
- Scala, Marcello;
- Nguyen, Thi Tuyet Mai;
- Severino, Mariasavina;
- Accogli, Andrea;
- Amadori, Elisabetta;
- Torella, Annalaura;
- Pinelli, Michele;
- Hudson, Beth;
- Boothe, Megan;
- Hurst, Anna;
- Ben‐Omran, Tawfeg;
- Larsen, Martin J.;
- Fagerberg, Christina R.;
- Sperling, Lene;
- Miceikaite, Ieva;
- Herissant, Lucas;
- Doco‐Fenzy, Martine;
- Jennesson, Mélanie;
- Nigro, Vincenzo
Publication type:
Article
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Published in:
Biology (2079-7737), 2020, v. 9, n. 5, p. 108, doi. 10.3390/biology9050108
By:
- Spodenkiewicz, Marta;
- Spodenkiewicz, Michel;
- Cleary, Maureen;
- Massier, Marie;
- Fitsialos, Giorgos;
- Cottin, Vincent;
- Jouret, Guillaume;
- Poirsier, Céline;
- Doco-Fenzy, Martine;
- Lèbre, Anne-Sophie
Publication type:
Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
By:
- Cordovado, Amélie;
- Schaettin, Martina;
- Jeanne, Médéric;
- Panasenkava, Veranika;
- Denommé-Pichon, Anne-Sophie;
- Keren, Boris;
- Mignot, Cyril;
- Doco-Fenzy, Martine;
- Rodan, Lance;
- Ramsey, Keri;
- Narayanan, Vinodh;
- Jones, Julie R;
- Prijoles, Eloise J;
- Mitchell, Wendy G;
- Ozmore, Jillian R;
- Juliette, Kali;
- Torti, Erin;
- Normand, Elizabeth A;
- Granger, Leslie;
- Petersen, Andrea K
Publication type:
Article
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187
By:
- Van Maldergem, Lionel;
- Hou, Qingming;
- Kalscheuer, Vera M.;
- Rio, Marlène;
- Doco-Fenzy, Martine;
- Medeira, Ana;
- de Brouwer, Arjan P.M.;
- Cabrol, Christelle;
- Haas, Stefan A.;
- Cacciagli, Pierre;
- Moutton, Sébastien;
- Landais, Emilie;
- Motte, Jacques;
- Colleaux, Laurence;
- Bonnet, Céline;
- Villard, Laurent;
- Dupont, Juliette;
- Man, Heng-Ye
Publication type:
Article
KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 12, p. 2387
By:
- Drévillon, Loïc;
- Megarbane, André;
- Demeer, Bénédicte;
- Matar, Corine;
- Benit, Paule;
- Briand-Suleau, Audrey;
- Bodereau, Virginie;
- Ghoumid, Jamal;
- Nasser, Mayssa;
- Decrouy, Xavier;
- Doco-Fenzy, Martine;
- Rustin, Pierre;
- Gaillard, Dominique;
- Goossens, Michel;
- Giurgea, Irina
Publication type:
Article
Identification of chromosomal loci associated with non-P-glycoprotein-mediated multidrug resistance to topoisomerase II inhibitor in lung adenocarcinoma cell line by comparative genomic hybridization.
Published in:
Genes, Chromosomes & Cancer, 2001, v. 30, n. 2, p. 136, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1071>3.0.CO;2-T
By:
- Struski, Stéphanie;
- Doco-Fenzy, Martine;
- Trussardi, Aurélie;
- Masson, Linda;
- Gruson, Nadine;
- Ulrich, Evelyne;
- Proult, Marylène;
- Jardillier, Jean-Claude;
- Potron, Gérard;
- Cornillet-Lefebvre, Pascale
Publication type:
Article
Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
By:
- Létard, Pascaline;
- Drunat, Séverine;
- Vial, Yoann;
- Duerinckx, Sarah;
- Ernault, Anais;
- Amram, Daniel;
- Arpin, Stéphanie;
- Bertoli, Marta;
- Busa, Tiffany;
- Ceulemans, Berten;
- Desir, Julie;
- Doco‐Fenzy, Martine;
- Elalaoui, Siham Chafai;
- Devriendt, Koenraad;
- Faivre, Laurence;
- Francannet, Christine;
- Geneviève, David;
- Gérard, Marion;
- Gitiaux, Cyril;
- Julia, Sophie
Publication type:
Article
Subtelomeric imbalances in phenotypically normal individuals.
Published in:
Human Mutation, 2007, v. 28, n. 10, p. 958, doi. 10.1002/humu.20537
By:
- Balikova, Irina;
- Menten, Björn;
- de Ravel, Thomy;
- Le Caignec, Cédric;
- Thienpont, Bernard;
- Urbina, Montse;
- Doco-Fenzy, Martine;
- de Rademaeker, Marjan;
- Mortier, Geert;
- Kooy, Frank;
- van Den Ende, Janneke;
- Devriendt, Koen;
- Fryns, Jean-Pierre;
- Speleman, Frank;
- Vermeesch, Joris Robert
Publication type:
Article
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Published in:
Pediatric Allergy & Immunology, 2017, v. 28, n. 3, p. 298, doi. 10.1111/pai.12694
By:
- Dard, Rodolphe;
- Herve, Bérénice;
- Leblanc, Thierry;
- Villartay, Jean‐Pierre;
- Collopy, Laura;
- Vulliami, Tom;
- Drunat, Severine;
- Gorde, Stephanie;
- Babik, Abel;
- Souchon, Pierre‐François;
- Agadr, Aomar;
- Abilkassem, Rachid;
- Elalloussi, Mustapha;
- Verloes, Alain;
- Doco‐Fenzy, Martine
Publication type:
Article
Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.
Published in:
2010
By:
- Targovnik, Héctor M.;
- Souchon, Pierre F.;
- Machiavelli, Gloria A.;
- Salmon-Musial, Anne S.;
- Mauran, Pierre L.A.;
- Sulmont, Véronique;
- Doco-Fenzy, Martine;
- Rivolta, Carina M.
Publication type:
Letter

Found: 21