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Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
By:
- Boutaud, Lucile;
- Ruzzenente, Benedetta;
- Tessier, Aude;
- Anselem, Olivia;
- Pannier, Emmanuelle;
- Grotto, Sarah;
- Talhi, Naïma;
- Amram, Daniel;
- Willems, Marjolaine;
- Wells, Constance;
- Blanchet, Patricia;
- Musizzano, Yuri;
- Jauny, Clémence;
- Nitschke, Patrick;
- Bole-Feysot, Christine;
- Bessières, Bettina;
- Salhi, Houria;
- Achaiaa, Amale;
- Metodiev, Metodi D;
- Razavi, Ferechte
Publication type:
Article
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. 1367, doi. 10.1210/clinem/dgab894
By:
- Huby, Thomas;
- Guillou, Edouard Le;
- des Roziers, Cyril Burin;
- Pacot, Laurence;
- Briand-Suleau, Audrey;
- Chansavang, Albain;
- Toussaint, Aurélie;
- Duchossoy, Véronique;
- Vaucouleur, Nicolas;
- Benoit, Virginie;
- Lodé, Laurence;
- Molac, Clémence;
- North, Marie-Odile;
- Grotto, Sarah;
- Tsatsaris, Vassilis;
- Jouinot, Anne;
- Cochand-Priollet, Béatrix;
- Paepegaey, Anne-Cécile;
- Nectoux, Juliette;
- Groussin, Lionel
Publication type:
Article
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
By:
- Quilichini, Juliette;
- Perol, Sandrine;
- Cuisset, Laurence;
- Grotto, Sarah;
- Fouveaut, Corinne;
- Barbot, Jean Claude;
- Verebi, Camille;
- Jordan, Pénélope;
- Héron, Delphine;
- Molina‐Gomes, Denise;
- Pipiras, Eva;
- Grynberg, Michael;
- Catteau‐Jonard, Sophie;
- Touraine, Philippe;
- Christin‐Maître, Sophie;
- Plu‐Bureau, Geneviève;
- El Khattabi, Laila;
- Bienvenu, Thierry
Publication type:
Article
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
By:
- Lehalle, Daphné;
- Altunoglu, Umut;
- Bruel, Ange‐Line;
- Assoum, Mirna;
- Duffourd, Yannis;
- Masurel, Alice;
- Baujat, Geneviève;
- Bessieres, Bettina;
- Captier, Guillaume;
- Edery, Patrick;
- Elçioğlu, Nursel H.;
- Geneviève, David;
- Goldenberg, Alice;
- Héron, Delphine;
- Grotto, Sarah;
- Marlin, Sandrine;
- Putoux, Audrey;
- Rossi, Massimiliano;
- Saugier‐Veber, Pascale;
- Triau, Stéphane
Publication type:
Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
By:
- Nizon, Mathilde;
- Andrieux, Joris;
- Rooryck, Caroline;
- de Blois, Marie‐Christine;
- Bourel‐Ponchel, Emilie;
- Bourgois, Béatrice;
- Boute, Odile;
- David, Albert;
- Delobel, Bruno;
- Duban‐Bedu, Bénédicte;
- Giuliano, Fabienne;
- Goldenberg, Alice;
- Grotto, Sarah;
- Héron, Delphine;
- Karmous‐Benailly, Houda;
- Keren, Boris;
- Lacombe, Didier;
- Lapierre, Jean‐Michel;
- Le Caignec, Cédric;
- Le Galloudec, Eric
Publication type:
Article
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
Published in:
Clinical Chemistry, 2018, v. 64, n. 4, p. 752, doi. 10.1373/clinchem.2017.281246
By:
- Grotto, Sarah;
- Sudrié-Arnaud, Bénédicte;
- Drouin-Garraud, Valérie;
- Nafeh-Bizet, Catherine;
- Chadefaux-Vekemans, Bernadette;
- Gobin, Stéphanie;
- Bekri, Soumeya;
- Tebani, Abdellah
Publication type:
Article
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Published in:
Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2380
By:
- Pannier, Emmanuelle;
- Sekri, Abel;
- Roux, Nathalie;
- Vasiljevic, Alexandre;
- El Khattabi, Laïla;
- Chatron, Nicolas;
- Grotto, Sarah;
- Menzella, Delphine;
- Grangé, Gilles;
- Thébault, Florent;
- Massardier, Jérôme;
- Fourrage, Cécile;
- Lohmann, Laurence;
- Tsatsaris, Vassilis;
- Putoux, Audrey;
- Boutaud, Lucile;
- Attié‐Bitach, Tania
Publication type:
Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Published in:
Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141
By:
- Lajmi, Yosra;
- Loeuillet, Laurence;
- Petrilli, Giulia;
- Egloff, Charles;
- Nectoux, Juliette;
- Molac, Clémence;
- Roux, Nathalie;
- Pannier, Emmanuelle;
- Achaiaa, Amale;
- Arkoub, Zaina Ait;
- Chuon, Sophie;
- Coussement, Aurélie;
- Dupont, Jean Michel;
- Malan, Valérie;
- Spaggiari, Emmanuel;
- Razavi, Ferechte;
- Amiel, Jeanne;
- Bessières, Bettina;
- Grotto, Sarah;
- Attié‐Bitach, Tania
Publication type:
Article
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Published in:
Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397
By:
- Capri, Yline;
- Bourmance, Lucas;
- Dupont, Céline;
- Saint‐Frison, Marie‐Hélène;
- Guimiot, Fabien;
- Grotto, Sarah;
- Chitrit, Yvon;
- Laquerrière, Annie;
- Melki, Judith
Publication type:
Article
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Published in:
2019
By:
- Grelet, Maude;
- Blanck, Véronique;
- Sigaudy, Sabine;
- Philip, Nicole;
- Giuliano, Fabienne;
- Khachnaoui, Khaoula;
- Morel, Godelieve;
- Grotto, Sarah;
- Sophie, Julia;
- Poirsier, Céline;
- Lespinasse, James;
- Alric, Laurent;
- Calvas, Patrick;
- Chalhoub, Gihane;
- Layet, Valérie;
- Molin, Arnaud;
- Colson, Cindy;
- Marsili, Luisa;
- Edery, Patrick;
- Lévy, Nicolas
Publication type:
journal article
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Published in:
Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 135, doi. 10.1007/s10815-023-02981-y
By:
- Jordan, Pénélope;
- Verebi, Camille;
- Perol, Sandrine;
- Grotto, Sarah;
- Fouveaut, Corinne;
- Christin-Maitre, Sophie;
- de la Perrière, Aude Brac;
- Grouthier, Virginie;
- Jonard-Catteau, Sophie;
- Touraine, Philippe;
- PLU-Bureau, Geneviève;
- Dupont, Jean Michel;
- El Khattabi, Laila;
- Bienvenu, Thierry
Publication type:
Article
Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1666, doi. 10.1002/pd.6463
By:
- Bourgon, Nicolas;
- Chen, Ruiqian;
- Grangé, Gilles;
- Grotto, Sarah;
- Molac, Clémence;
- Loeuillet, Laurence;
- Attié‐Bitach, Tania
Publication type:
Article
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Published in:
Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
By:
- Halewa, Judith;
- Marouillat, Sylviane;
- Dixneuf, Manon;
- Thépault, Rose‐Anne;
- Ung, Dévina C.;
- Chatron, Nicolas;
- Gérard, Bénédicte;
- Ghoumid, Jamal;
- Lesca, Gaëtan;
- Till, Marianne;
- Smol, Thomas;
- Couque, Nathalie;
- Ruaud, Lyse;
- Chune, Valérie;
- Grotto, Sarah;
- Verloes, Alain;
- Vuillaume, Marie‐Laure;
- Toutain, Annick;
- Raynaud, Martine;
- Laumonnier, Frédéric
Publication type:
Article
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
By:
- Boussion, Simon;
- Escande, Fabienne;
- Jourdain, Anne‐Sophie;
- Smol, Thomas;
- Brunelle, Perrine;
- Duhamel, Céline;
- Alembik, Yves;
- Attié‐Bitach, Tania;
- Baujat, Geneviève;
- Bazin, Anne;
- Bonnière, Maryse;
- Carassou, Philippe;
- Carles, Dominique;
- Devisme, Louise;
- Goizet, Cyril;
- Goldenberg, Alice;
- Grotto, Sarah;
- Guichet, Agnès;
- Jouk, Pierre‐Simon;
- Loeuillet, Laurence
Publication type:
Article
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Published in:
Open Medicine, 2020, v. 15, n. 1, p. 435, doi. 10.1515/med-2020-0150
By:
- Marey, Isabelle;
- Fressart, Véronique;
- Rambaud, Caroline;
- Fornes, Paul;
- Martin, Laurent;
- Grotto, Sarah;
- Alembik, Yves;
- Gorka, Hervé;
- Millat, Gilles;
- Gandjbakhch, Estelle;
- Bordet, Céline;
- Lorin de la Grandmaison, Geoffroy;
- Richard, Pascale;
- Charron, Philippe
Publication type:
Article

Found: 15