OpenURL Connection Search

Select item for more details and to access through your institution.

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.
Published in:
Human Genetics, 2024, v. 143, n. 1, p. 71, doi. 10.1007/s00439-023-02622-5
By:
- Schmetz, Ariane;
- Lüdecke, Hermann-Josef;
- Surowy, Harald;
- Sivalingam, Sugirtahn;
- Bruel, Ange-Line;
- Caumes, Roseline;
- Charles, Perrine;
- Chatron, Nicolas;
- Chrzanowska, Krystyna;
- Codina-Solà, Marta;
- Colson, Cindy;
- Cuscó, Ivon;
- Denommé-Pichon, Anne-Sophie;
- Edery, Patrick;
- Faivre, Laurence;
- Green, Andrew;
- Heide, Solveig;
- Hsieh, Tzung-Chien;
- Hustinx, Alexander;
- Kleinendorst, Lotte
Publication type:
Article
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63457
By:
- Bourgois, Alexia;
- Bizaoui, Varoona;
- Colson, Cindy;
- Vincent‐Devulder, Aline;
- Molin, Arnaud;
- Gérard, Marion;
- Gruchy, Nicolas
Publication type:
Article
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.
Published in:
2015
By:
- Bréhin, Anne-Claire;
- Colson, Cindy;
- Maupetit-Méhouas, Stéphanie;
- Grybek, Virginie;
- Richard, Nicolas;
- Linglart, Agnès;
- Kottler, Marie-Laure;
- Jüppner, Harald
Publication type:
journal 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
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
By:
- Jourdain, Anne‐Sophie;
- Petit, Florence;
- Odou, Marie‐Françoise;
- Balduyck, Malika;
- Brunelle, Perrine;
- Dufour, William;
- Boussion, Simon;
- Brischoux‐Boucher, Elise;
- Colson, Cindy;
- Dieux, Anne;
- Gérard, Marion;
- Ghoumid, Jamal;
- Giuliano, Fabienne;
- Goldenberg, Alice;
- Khau Van Kien, Philippe;
- Lehalle, Daphné;
- Morin, Gilles;
- Moutton, Sébastien;
- Smol, Thomas;
- Vanlerberghe, Clémence
Publication type:
Article
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Published in:
Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
By:
- Mau-Them, Frédéric Tran;
- Delanne, Julian;
- Denommé-Pichon, Anne-Sophie;
- Safraou, Hana;
- Bruel, Ange-Line;
- Vitobello, Antonio;
- Garde, Aurore;
- Nambot, Sophie;
- Bourgon, Nicolas;
- Racine, Caroline;
- Sorlin, Arthur;
- Moutton, Sébastien;
- Marle, Nathalie;
- Rousseau, Thierry;
- Sagot, Paul;
- Simon, Emmanuel;
- Vincent-Delorme, Catherine;
- Boute, Odile;
- Colson, Cindy;
- Petit, Florence
Publication type:
Article
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52095-x
By:
- Willim, Jana;
- Woike, Daniel;
- Greene, Daniel;
- Das, Sarada;
- Pfeifer, Kevin;
- Yuan, Weimin;
- Lindsey, Anika;
- Itani, Omar;
- Böhme, Amber L.;
- Tibbe, Debora;
- Hönck, Hans-Hinrich;
- Hassani Nia, Fatemeh;
- Zech, Michael;
- Brunet, Theresa;
- Faivre, Laurence;
- Sorlin, Arthur;
- Vitobello, Antonio;
- Smol, Thomas;
- Colson, Cindy;
- Baranano, Kristin
Publication type:
Article
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52095-x
By:
- Willim, Jana;
- Woike, Daniel;
- Greene, Daniel;
- Das, Sarada;
- Pfeifer, Kevin;
- Yuan, Weimin;
- Lindsey, Anika;
- Itani, Omar;
- Böhme, Amber L.;
- Tibbe, Debora;
- Hönck, Hans-Hinrich;
- Hassani Nia, Fatemeh;
- Zech, Michael;
- Brunet, Theresa;
- Faivre, Laurence;
- Sorlin, Arthur;
- Vitobello, Antonio;
- Smol, Thomas;
- Colson, Cindy;
- Baranano, Kristin
Publication type:
Article
Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations.
Published in:
Journal of Bone & Mineral Research, 2020, v. 35, n. 5, p. 913, doi. 10.1002/jbmr.3948
By:
- Snanoudj, Sarah;
- Molin, Arnaud;
- Colson, Cindy;
- Coudray, Nadia;
- Paulien, Sylvie;
- Mittre, Hervé;
- Gérard, Marion;
- Schaefer, Elise;
- Goldenberg, Alice;
- Bacchetta, Justine;
- Odent, Sylvie;
- Naudion, Sophie;
- Demeer, Bénédicte;
- Faivre, Laurence;
- Gruchy, Nicolas;
- Kottler, Marie‐Laure;
- Richard, Nicolas
Publication type:
Article
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16103-0
By:
- Gaub, Aline;
- Sheikh, Bilal N.;
- Basilicata, M. Felicia;
- Vincent, Marie;
- Nizon, Mathilde;
- Colson, Cindy;
- Bird, Matthew J.;
- Bradner, James E.;
- Thevenon, Julien;
- Boutros, Michael;
- Akhtar, Asifa
Publication type:
Article
Pain Assessment in the Outpatient Pediatric Burn Patient: An Integrative Review.
Published in:
Journal of Trauma Nursing, 2024, v. 31, n. 4, p. 203, doi. 10.1097/JTN.0000000000000799
By:
- Colson, Cindy;
- Ascenzi, Judy;
- Waibel, Elizabeth;
- Busch, Deborah
Publication type:
Article
The Development and Implementation of a Transfer Follow-up Program at a Level I Pediatric Trauma Center.
Published in:
Journal of Trauma Nursing, 2020, v. 27, n. 5, p. 262, doi. 10.1097/JTN.0000000000000527
By:
- Colson, Cindy D.;
- Alberto, Emily C.;
- Fritzeen, Jennifer L.
Publication type:
Article

Found: 12