Publications by authors named "Florence Dastot-Le Moal"

21Publications

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Hum Mol Genet 2016 Apr 19;25(8):1457-67. Epub 2016 Jan 19.

INSERM UMRS933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris 75012, France.

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http://dx.doi.org/10.1093/hmg/ddw014DOI Listing
April 2016

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

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

Review and update of mutations causing Waardenburg syndrome.

Hum Mutat 2010 Apr;31(4):391-406

INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21211DOI Listing
April 2010

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

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Am J Med Genet A 2005 Sep;137A(3):302-4

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30896DOI Listing
September 2005

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

Am J Respir Cell Mol Biol 2002 Mar;26(3):362-70

Institut National de la Santé et de la Recherche Médicale U468, and U492, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1165/ajrcmb.26.3.4738DOI Listing
March 2002