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Author/Creator Arveiler, Benoît

1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018)

Authors:
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
85
Record Type:
Journal Article
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2. Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. (3rd November 2015)

Authors:
Bertolotti, Antoine; Lasseaux, Eulalie; Plaisant, Claudio; Trimouille, Aurelien; Morice‐Picard, Fanny; Rooryck, Caroline; Lacombe, Didier; Couppie, Pierre; Arveiler, Benoît
Journal:
Pigment cell & melanoma research
Issue:
Volume 29:Number 1(2016:Jan.)
Page Start:
104
Record Type:
Journal Article
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3. Increasing the complexity: new genes and new types of albinism. (17th October 2013)

Authors:
Montoliu, Lluís; Grønskov, Karen; Wei, Ai‐Hua; Martínez‐García, Mónica; Fernández, Almudena; Arveiler, Benoît; Morice‐Picard, Fanny; Riazuddin, Saima; Suzuki, Tamio; Ahmed, Zubair M.; Rosenberg, Thomas; Li, Wei
Journal:
Pigment cell & melanoma research
Issue:
Volume 27:Number 1(2014:Jan.)
Page Start:
11
Record Type:
Journal Article
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5. Molecular characterization of a series of 990 index patients with albinism. (14th February 2018)

Authors:
Lasseaux, Eulalie; Plaisant, Claudio; Michaud, Vincent; Pennamen, Perrine; Trimouille, Aurelien; Gaston, Laetitia; Monfermé, Solène; Lacombe, Didier; Rooryck, Caroline; Morice‐Picard, Fanny; Arveiler, Benoît
Journal:
Pigment cell & melanoma research
Issue:
Volume 31:Number 4(2018)
Page Start:
466
Record Type:
Journal Article
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6. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome. (3rd August 2020)

Authors:
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
Journal:
Pigment cell & melanoma research
Issue:
Volume 34:Number 1(2021)
Page Start:
132
Record Type:
Journal Article
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