Publications by authors named "Nathalie Collot"

15Publications

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

J Med Genet 2020 04 26;57(4):237-244. Epub 2019 Nov 26.

Universite Paris-Est, Faculte de Médecine, INSERM (Institut National pour la Santé et la Recherche Médicale) UMR_S955, Equipe 13, CNRS (Centre National pour la Recherche Scientifique), ERL 7000, Creteil, France.

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http://dx.doi.org/10.1136/jmedgenet-2019-106424DOI Listing
April 2020

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Sex Dev 2017 13;11(5-6):293-297. Epub 2018 Jan 13.

Department of Pediatric Surgery and Urology, Robert-Debré Pediatric Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1159/000485909DOI Listing
October 2018

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Am J Hum Genet 2015 Jul 11;97(1):153-62. Epub 2015 Jun 11.

INSERM UMR S933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France; Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571005PMC
July 2015

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.

J Med Case Rep 2014 Dec 29;8:471. Epub 2014 Dec 29.

Centre de génomique humaine, Faculté de médecine et pharmacie, Université Mohammed V Souissi, Angle Avenue Allal El Fassi et Mfadel Cherkaoui, 10100 Rabat, Morocco.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1752-1947-8-471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320515PMC
December 2014

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

Eur J Endocrinol 2012 Jul 24;167(1):85-91. Epub 2012 Apr 24.

Inserm U.933, Hôpital Armand-Trousseau, Université Pierre et Marie Curie-Paris 6, 75571 Paris Cedex 12, France.

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http://dx.doi.org/10.1530/EJE-12-0026DOI Listing
July 2012

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Hum Mutat 2007 Apr;28(4):313-21

INSERM, U654, Université Paris 12, IFR10-IM3, AP-HP, Groupe Hospitalier Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.20452
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http://dx.doi.org/10.1002/humu.20452DOI Listing
April 2007