Works matching AU Pennamen, Perrine

Results: 8

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.

Published in:

Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915

By:

Pennamen, Perrine;
Tingaud‐Sequeira, Angèle;
Michaud, Vincent;
Morice‐Picard, Fanny;
Plaisant, Claudio;
Vincent‐Delorme, Catherine;
Giuliano, Fabienne;
Azarnoush, Saba;
Capri, Yline;
Marçon, Carolina;
Lacombe, Didier;
Lasseaux, Eulalie;
Arveiler, Benoît

Publication type:

Article

Molecular characterization of a series of 990 index patients with albinism.

Published in:

Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688

By:

Lasseaux, Eulalie;
Plaisant, Claudio;
Michaud, Vincent;
Pennamen, Perrine;
Trimouille, Aurelien;
Gaston, Laetitia;
Monfermé, Solène;
Lacombe, Didier;
Rooryck, Caroline;
Morice‐Picard, Fanny;
Arveiler, Benoît

Publication type:

Article

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525

By:

Billes, Alexis;
Pujalte, Mathilde;
Jedraszak, Guillaume;
Amsallem, Daniel;
Boudry‐Labis, Elise;
Boute, Odile;
Bouquillon, Sonia;
Brischoux‐Boucher, Elise;
Callier, Patrick;
Coutton, Charles;
Denizet, Anne‐Laude Avice;
Dieterich, Klaus;
Kuentz, Paul;
Lespinasse, James;
Mazel, Benoît;
Morin, Gilles;
Amram, Florence;
Pennamen, Perrine;
Rio, Marlène;
Piard, Juliette

Publication type:

Article

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

Published in:

Ophthalmic Genetics, 2019, v. 40, n. 2, p. 161, doi. 10.1080/13816810.2019.1592201

By:

Michaud, Vincent;
Defoort-Dhellemmes, Sabine;
Drumare, Isabelle;
Pennamen, Perrine;
Plaisant, Claudio;
Lasseaux, Eulalie;
Arveiler, Benoit

Publication type:

Article

Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.

Published in:

2018

By:

Brun, Stephanie;
Pennamen, Perrine;
Mattuizzi, Aurelien;
Coatleven, Frederic;
Vuillaume, Marie Laure;
Lacombe, Didier;
Arveiler, Benoit;
Toutain, Jerome;
Rooryck, Caroline

Publication type:

journal article

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1030, doi. 10.1002/ajmg.a.61127

By:

Bonnemason‐Carrere, Paul;
Morice‐Picard, Fanny;
Pennamen, Perrine;
Arveiler, Benoit;
Fergelot, Patricia;
Goizet, Cyril;
Hellegouarch, Mélanie;
Lacombe, Didier;
Plaisant, Claudio;
Raclet, Virginie;
Rooryck, Caroline;
Lasseaux, Eulalie;
Trimouille, Aurélien

Publication type:

Article

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Published in:

Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067

By:

Abdelfattah, Fatima;
Kariminejad, Ariana;
Kahlert, Anne‐Karin;
Morrison, Patrick J.;
Gumus, Evren;
Mathews, Katherine D.;
Darbro, Benjamin W.;
Amor, David J.;
Walsh, Maie;
Sznajer, Yves;
Weiß, Luisa;
Weidensee, Sabine;
Chitayat, David;
Shannon, Patrick;
Bermejo‐Sánchez, Eva;
Riaño‐Galán, Isolina;
Hayes, Ian;
Poke, Gemma;
Rooryck, Caroline;
Pennamen, Perrine

Publication type:

Article

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09006-2

By:

Cullot, Grégoire;
Boutin, Julian;
Toutain, Jérôme;
Prat, Florence;
Pennamen, Perrine;
Rooryck, Caroline;
Teichmann, Martin;
Rousseau, Emilie;
Lamrissi-Garcia, Isabelle;
Guyonnet-Duperat, Véronique;
Bibeyran, Alice;
Lalanne, Magalie;
Prouzet-Mauléon, Valérie;
Turcq, Béatrice;
Ged, Cécile;
Blouin, Jean-Marc;
Richard, Emmanuel;
Dabernat, Sandrine;
Moreau-Gaudry, François;
Bedel, Aurélie

Publication type:

Article