Publications by authors named "Fabienne Giuliano"

53Publications

Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.

Childs Nerv Syst 2020 May 26;36(5):961-965. Epub 2020 Feb 26.

Service de Génétique Clinique, Chromosomique et Moléculaire, Centre de Compétence des Epilepsies rares (CReER), CHU-Hôpital Nord, Saint Etienne, France.

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http://dx.doi.org/10.1007/s00381-020-04551-4DOI Listing
May 2020

Forefoot malformations, deformities and other congenital defects in children.

Orthop Traumatol Surg Res 2020 02 21;106(1S):S115-S123. Epub 2019 Oct 21.

Hôpitaux pédiatriques de Nice CHU-Lenval, 59, avenue de la Californie, 06000 Nice, France.

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http://dx.doi.org/10.1016/j.otsr.2019.03.021DOI Listing
February 2020

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

Eur J Med Genet 2020 Mar 16;63(3):103768. Epub 2019 Sep 16.

Génétique Médicale, Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker, AP-HP, Paris, France; INSERM, UMR-1163, Institut Imagine Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103768DOI Listing
March 2020

Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion.

Am J Med Genet A 2016 Mar 14;170(3):792-4. Epub 2015 Nov 14.

University Department of Child and Adolescent Psychiatry, Nice Children's Hospitals CHU-Lenval, Nice, France.

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http://dx.doi.org/10.1002/ajmg.a.37470DOI Listing
March 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752661PMC
February 2016

De novo 4q duplication/deletion in a fetus with a congenital heart defect.

Am J Med Genet A 2015 Aug 19;167A(8):1932-6. Epub 2015 Jun 19.

Service de Génétique Médicale, Hôpital de l'Archet II, St Antoine de Ginestière, France.

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http://dx.doi.org/10.1002/ajmg.a.37005DOI Listing
August 2015

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

Delineation of a region responsible for panhypopituitarism in 20p11.2.

Am J Med Genet A 2013 Jul 8;161A(7):1547-54. Epub 2013 May 8.

Service de Génétique Médicale, Hôpital de l'Archet II, CHU Nice, Nice Cedex 3, France.

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http://dx.doi.org/10.1002/ajmg.a.35921DOI Listing
July 2013

Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.

Eur J Paediatr Neurol 2009 Nov 14;13(6):559-61. Epub 2009 Jan 14.

LENVAL Foundation - Children's Hospital, 57 avenue de la Californie, 06200 Nice, France.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798080021
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http://dx.doi.org/10.1016/j.ejpn.2008.11.009DOI Listing
November 2009

Acrocallosal syndrome in fetus: focus on additional brain abnormalities.

Acta Neuropathol 2008 Jan 26;115(1):151-6. Epub 2007 Jun 26.

Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, 264 rue Saint-Pierre, 13385, Marseille Cedex 05, France.

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http://link.springer.com/content/pdf/10.1007/s00401-007-0249
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http://link.springer.com/10.1007/s00401-007-0249-y
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http://dx.doi.org/10.1007/s00401-007-0249-yDOI Listing
January 2008

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.

Eur J Med Genet 2006 Sep-Oct;49(5):431-8. Epub 2006 Feb 10.

Service de génétique médicale, hôpital l'Archet 2, CHU de Nice, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 03, France.

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http://dx.doi.org/10.1016/j.ejmg.2006.01.008DOI Listing
November 2006