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Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
Published in:
Prenatal Diagnosis, 2004, v. 24, n. 5, p. 393, doi. 10.1002/pd.891
By:
- Faivre, Laurence;
- Rousseau, Thierry;
- Laurent, Nicole;
- Gosset, Philippe;
- Sanlaville, Damien;
- Thauvin-Robinet, Christel;
- Cusin, Véronica;
- Lionnais, Stéphanie;
- Callier, Patrick;
- Khau Van Kien, Philippe;
- Huet, Frédéric;
- Turleau, Catherine;
- Sagot, Paul;
- Mugneret, Francine
Publication type:
Article
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
By:
- Viollet, Louis;
- Zarhrate, Mohammed;
- Maystadt, Isabelle;
- Estournet-Mathiaut, Brigitte;
- Barois, Annie;
- Desguerre, Isabelle;
- Mayer, Michèle;
- Chabrol, Brigitte;
- LeHeup, Bruno;
- Cusin, Veronica;
- de Villemeur, Thierry Billette;
- Bonneau, Dominique;
- Saugier-Veber, Pascale;
- Villepin, Anne Touzery-de;
- Delaubier, Anne;
- Kaplan, Jocelyne;
- Jeanpierre, Marc;
- Feingold, Joshué;
- Munnich, Arnold
Publication type:
Article
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096387
By:
- Aubart, Mélodie;
- Gobert, Delphine;
- Aubart-Cohen, Fleur;
- Detaint, Delphine;
- Hanna, Nadine;
- d’Indya, Hyacintha;
- Lequintrec, Janine-Sophie;
- Renard, Philippe;
- Vigneron, Anne-Marie;
- Dieudé, Philippe;
- Laissy, Jean-Pierre;
- Koch, Pierre;
- Muti, Christine;
- Roume, Joelle;
- Cusin, Veronica;
- Grandchamp, Bernard;
- Gouya, Laurent;
- LeGuern, Eric;
- Papo, Thomas;
- Boileau, Catherine
Publication type:
Article
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Published in:
Human Mutation, 2004, v. 24, n. 5, p. 417, doi. 10.1002/humu.20092
By:
- Clermont, Olivier;
- Burlet, Philippe;
- Benit, Paule;
- Chanterau, Dominique;
- Saugier-Veber, Pascale;
- Munnich, Arnold;
- Cusin, Veronica
Publication type:
Article
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Published in:
Gastric Cancer, 2019, v. 22, n. 4, p. 899, doi. 10.1007/s10120-018-00907-7
By:
- Benusiglio, Patrick R.;
- Colas, Chrystelle;
- Guillerm, Erell;
- Canard, Axelle;
- Delhomelle, Hélène;
- Warcoin, Mathilde;
- Bellanger, Jérôme;
- Eyries, Mélanie;
- Zizi, Mohamed;
- Netter, Jeanne;
- Soubrier, Florent;
- Parc, Yann;
- Mourregot, Anne;
- Maran Gonzalez, Aurélie;
- Cusin, Veronica;
- Denis, Jérôme A.;
- Coupier, Isabelle;
- Svrcek, Magali;
- Coulet, Florence
Publication type:
Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
By:
- Gerasimenko, Anna;
- Mignot, Cyril;
- Naggara, Olivier;
- Coulet, Florence;
- Ekram, Samar;
- Heide, Solveig;
- Sorato, Clarisse;
- Mazowiecki, Maxime;
- Perrin, Laurence;
- Colas, Chrystelle;
- Cusin, Veronica;
- Caux, Frédéric;
- Dardenne, Antoine;
- El Chehadeh, Salima;
- Verloes, Alain;
- Maurey, Hélène;
- Afenjar, Alexandra;
- Petit, Florence;
- Barete, Stéphane;
- Boespflug‐Tanguy, Odile
Publication type:
Article
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 662, doi. 10.1111/cge.13925
By:
- Boulouard, Flavie;
- Kasper, Edwige;
- Buisine, Marie‐Pierre;
- Lienard, Gwendoline;
- Vasseur, Stéphanie;
- Manase, Sandrine;
- Bahuau, Michel;
- Barouk Simonet, Emmanuelle;
- Bubien, Virginie;
- Coulet, Florence;
- Cusin, Véronica;
- Dhooge, Marion;
- Golmard, Lisa;
- Goussot, Vincent;
- Hamzaoui, Nadim;
- Lacaze, Elodie;
- Lejeune, Sophie;
- Mauillon, Jacques;
- Beaumont, Marie‐Pascale;
- Pinson, Stéphane
Publication type:
Article

Found: 7

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.

Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.