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Author/Creator Perrault, Isabelle

1. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium. Issue 1 (13th November 2013)

Authors:
Thomas, Sophie; Wright, Kevin J.; Corre, Stéphanie Le; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean‐Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, S...
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
137
Record Type:
Journal Article
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2. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. (16th May 2018)

Authors:
Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier
Journal:
Human molecular genetics
Issue:
Volume 27:Number 15(2018:Aug. 01)
Page Start:
2689
Record Type:
Journal Article
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3. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015)

Authors:
Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 10(2015)
Page Start:
657
Record Type:
Journal Article
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4. ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Issue 47 (5th November 2015)

Authors:
Hamdan, Fadi F.; Perrault, Isabelle; Rio, Marlène; Capo‐Chichi, José‐Mario; Boddaert, Nathalie; Décarie, Jean‐Claude; Maranda, Bruno; Nabbout, Rima; Sylvain, Michel; Lortie, Anne; Roux, Philippe P.; Rossignol, Elsa; Gérard, Xavier; Barcia, Giulia; Berquin, Patrick; Munnich, Arnold; Rouleau, Guy A...
Journal:
International journal of developmental neuroscience
Issue:
Issue 47:Part A(2015:Dec.)
Page Start:
119
Record Type:
Journal Article
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5. LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. Issue Volume 11:Issues 3(2017:Summer) (2017)

Authors:
Perez-Roustit, Sarah; Marquette, Virginie; Bocquet, Béatrice; Kaplan, Josseline; Perrault, Isabelle; Meunier, Isabelle; Hamel, Christian P.
Journal:
Retinal cases & brief reports
Issue:
Volume 11:Issues 3(2017:Summer)
Page Start:
Record Type:
Journal Article
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6. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Issue 47 (December 2015)

Authors:
Hamdan, Fadi F.; Perrault, Isabelle; Rio, Marlène; Capo-Chichi, José-Mario; Boddaert, Nathalie; Décarie, Jean-Claude; Maranda, Bruno; Nabbout, Rima; Sylvain, Michel; Lortie, Anne; Roux, Philippe P.; Rossignol, Elsa; Gérard, Xavier; Barcia, Giulia; Berquin, Patrick; Munnich, Arnold; Rouleau, Guy A...
Journal:
International journal of developmental neuroscience
Issue:
Issue 47:Part A(2015:Dec.)
Page Start:
119
Record Type:
Journal Article
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7. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. Issue 6 (1st June 1999)

Authors:
Rozet, Jean-Michet; Gerber, Sylvie; Ghazi, Imad; Perrault, Isabelle; Ducroq, Dominique; Souied, Eric; Cabot, Annick; Dufier, Jean-Louis; Munnich, Arnold; Kaplan, Josseline
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 6(1999)
Page Start:
447
Record Type:
Journal Article
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