Publications by authors named "Frederic Huet"

97Publications

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Eur J Med Genet 2020 Nov 14;63(11):104036. Epub 2020 Aug 14.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Génétique des Anomalies du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France. Electronic address:

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November 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 07 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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July 2020

Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy.

Pediatr Infect Dis J 2019 12;38(12):e326-e328

From the National Reference Centre for Gastroenteritis Viruses, Laboratory of Virology, University Hospital of Dijon Bourgogne, Dijon, France.

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December 2019

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

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November 2017

[Epidemiology of strokes in pediatry].

Soins Pediatr Pueric 2017 Mar - Apr;38(295):12-13

Registre Dijonnais des AVC, CHU Dijon Bourgogne, 14 rue Gaffarel, 21089 Dijon, France.

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July 2017

Partly Fermented Infant Formulae With Specific Oligosaccharides Support Adequate Infant Growth and Are Well-Tolerated.

J Pediatr Gastroenterol Nutr 2016 10;63(4):e43-53

*Hôpital d'Enfants, Dijon, France †Nutricia Research, Utrecht, The Netherlands ‡Center Hospitalier Universitaire Vaudois, Lausanne, Switzerland §Maison de l'enfant Essey- lès- Nancy, Essey- lès- Nancy ||Center Hospitalier Universitaire d'Angers, Angers, France ¶Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium #Department of Paediatrics and Child Health, University College, Cork, Ireland.

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October 2016

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Am J Med Genet A 2014 Dec 24;164A(12):3027-34. Epub 2014 Sep 24.

Fédération Hospitalo-Universitaire TRANSLAD et Centre de Génétique et Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» du Grand Est, Hôpital d'Enfants, CHU Dijon, Dijon, France; Université de Bourgogne, Dijon, France.

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December 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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July 2014

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Eur J Hum Genet 2014 Jun 30;22(6):776-83. Epub 2013 Oct 30.

1] IGBMC, CNRS UMR 7104/INSERM U964/University of Strasbourg, Illkirch Cedex, France [2] Chaire de Génétique Humaine, Collège de France, Paris, France [3] Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

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June 2014

[Results of early growth hormone treatment in children with hypopituitarism].

Bull Acad Natl Med 2012 Jan;196(1):117-23; discussion 123-5

Pédiatrie 1 et Génétique Médicale, Hôpital d'Enfants, Bd de Lattre de Tassigny--21079 Dijon cedex.

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January 2012

Growth during puberty in cystic fibrosis: a retrospective evaluation of a French cohort.

Arch Dis Child 2012 Aug 12;97(8):714-20. Epub 2012 Jun 12.

Service de pediatrie 1, Hôpital des enfants, CHU de Dijon 2 Boulevard Marechal de Lattre de Tassigny 21079 DIJON France.

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August 2012

[Stroke in children: a medical emergency].

Presse Med 2012 May 10;41(5):518-24. Epub 2012 Feb 10.

CHU de Dijon, hôpital général, service de neurologie, unité neurovasculaire, 21000 Dijon, France.

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May 2012

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

Eur J Med Genet 2011 May-Jun;54(3):369-73. Epub 2011 Mar 30.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU de Dijon, France.

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September 2011

Burden of paediatric rotavirus gastroenteritis and potential benefits of a universal rotavirus vaccination programme with RotaTeq in France.

Vaccine 2007 Aug 29;25(34):6348-58. Epub 2007 Jun 29.

Hôpital du Bocage, Service de pédiatrie, 10 boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.

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August 2007

Multicenter prospective study of the burden of rotavirus acute gastroenteritis in Europe, 2004-2005: the REVEAL study.

J Infect Dis 2007 May;195 Suppl 1:S4-S16

Faculty of Medicine, Centre for the Evaluation of Vaccination, World Health Organization Collaborating Centre for the Control and Prevention of Viral Hepatitis, University of Antwerp, Antwerp, Antwerp, BE-2610, Belgium.

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May 2007

Epidemiological and clinical features of hMPV, RSV and RVs infections in young children.

J Clin Virol 2007 Mar 22;38(3):221-6. Epub 2007 Jan 22.

Laboratoire de Virologie, CHU Dijon, 21079 Dijon Cedex, France.

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March 2007

Isolated isoperistaltic gastric tube interposition for esophageal replacement in children.

J Pediatr Surg 2006 Mar;41(3):592-5

Department of Pediatric Surgery, Hopital D'Enfants, University of Dijon 21079, Dijon, France.

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March 2006

Treatment of growth hormone deficiency in very young children.

Horm Res 2003 ;60(Suppl 1):10-7

Groupe hospitalier Cochin-Saint Vincent de Paul and Faculté Cochin, Université Paris V, Paris, France.

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January 2004

Complementary effects of adenosine and angiotensin II in hypoxemia-induced renal dysfunction in the rabbit.

Life Sci 2002 Jul;71(7):779-87

Service de Pédiatrie, Unité de Néphrologie Pédiatrique, Centre Hospitalier Universitaire Vaudois, BH 11, CH-1011 Lausanne, Switzerland.

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July 2002

[Acute diarrhea and dehydration in infants and children].

Authors:
Frédéric Huet

Rev Prat 2002 Jan;52(2):187-92

Service de pédiatrie I, hôpital d'enfants, centre hospitalier universitaire de Dijon, 21034 Dijon.

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January 2002