Florence Amblard

Florence Amblard

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Florence Amblard

Florence Amblard

Publications by authors named "Florence Amblard"

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16Publications

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

J Med Genet 2019 Aug 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

[A specialised consultation for children and young adults with trisomy 21].

Soins Pediatr Pueric 2018 May - Jun;39(302):36-39

Laboratoire HP(2) Inserm U1042, UM Sports et pathologies, Hôpital Sud, Centre hospitalier universitaire Grenoble Alpes, 38043 Grenoble, France.

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http://dx.doi.org/10.1016/j.spp.2018.03.008DOI Listing
November 2018

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

Hum Reprod 2016 06 19;31(6):1164-72. Epub 2016 Apr 19.

Université Grenoble Alpes, Grenoble F-38000, France Equipe 'Genetics Epigenetics and Therapies of Infertility', Institut Albert Bonniot (IAB), INSERM U1209, CNRS UMR 5309, Grenoble F-38000, France CHU de Grenoble, UF de Génétique Chromosomique, Grenoble F-38000, France.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/dew083DOI Listing
June 2016

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Am J Med Genet A 2016 Feb 6;170A(2):498-503. Epub 2015 Nov 6.

Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.37450DOI Listing
February 2016

Array-CGH in children with mild intellectual disability: a population-based study.

Eur J Pediatr 2015 Jan 3;174(1):75-83. Epub 2014 Jul 3.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38700, Grenoble, France,

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http://dx.doi.org/10.1007/s00431-014-2367-6DOI Listing
January 2015

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

Am J Med Genet A 2014 Aug 8;164A(8):2133-5. Epub 2014 Apr 8.

Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, Grenoble, France; Université Joseph Fourier, Grenoble, France; Grenoble Institut des Neurosciences, Unité INSERM U836, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.36566DOI Listing
August 2014

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Am J Med Genet A 2014 Jun 19;164A(6):1530-6. Epub 2014 Mar 19.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.

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http://doi.wiley.com/10.1002/ajmg.a.36467
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http://dx.doi.org/10.1002/ajmg.a.36467DOI Listing
June 2014

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Eur J Hum Genet 2013 Oct 23;21(10):1079-84. Epub 2013 Jan 23.

1] Chronic Granulomatous Disease Diagnosis and Research Centre, Therex-TIMC/Imag, UMR CNRS 5525, UJF-Grenoble 1, Grenoble, France [2] Pôle Biologie, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1038/ejhg.2012.310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778347PMC
October 2013

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.

Am J Med Genet A 2012 Oct 17;158A(10):2564-70. Epub 2012 Aug 17.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.35553DOI Listing
October 2012