Audrey Putoux

Audrey Putoux

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Audrey Putoux

Audrey Putoux

Publications by authors named "Audrey Putoux"

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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Prenat Diagn 2020 Jan 5;40(2):276-281. Epub 2019 Dec 5.

Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.

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http://dx.doi.org/10.1002/pd.5589DOI Listing
January 2020

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Eur J Med Genet 2019 Oct 15;62(10):103726. Epub 2019 Jul 15.

Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103726DOI Listing
October 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome.

Am J Med Genet A 2019 07 7;179(7):1357-1361. Epub 2019 May 7.

Le service de neurochirurgie pédiatrique, Hopital Mere Femme, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.61180DOI Listing
July 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Hum Mol Genet 2019 03;28(6):877-887

Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France.

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy392DOI Listing
March 2019

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

Am J Med Genet A 2014 Jun 25;164A(6):1571-5. Epub 2014 Mar 25.

Genetics Service, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, and Eastern Biology and Pathology Centre, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.36484DOI Listing
June 2014

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Am J Med Genet A 2013 Feb 15;161A(2):331-7. Epub 2013 Jan 15.

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France.

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http://doi.wiley.com/10.1002/ajmg.a.35708
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http://dx.doi.org/10.1002/ajmg.a.35708DOI Listing
February 2013

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Pediatr Nephrol 2012 Jan 19;27(1):7-15. Epub 2011 Jan 19.

INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1007/s00467-010-1751-3DOI Listing
January 2012