Publications by authors named "Caroline Schluth-Bolard"

49Publications

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Mol Genet Metab Rep 2019 Dec 1;21:100509. Epub 2019 Nov 1.

Service de Biochimie & Biologie Moléculaire, UF Maladies Héréditaires du Métabolisme, Hospices Civils de Lyon, F-69500 Bron, France.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838931PMC
December 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Eur J Med Genet 2020 Apr 25;63(4):103776. Epub 2019 Sep 25.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France; GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103776DOI Listing
April 2020

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies".

Prenat Diagn 2019 06 20;39(7):571-572. Epub 2019 May 20.

Twin Pregnancy Unit, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/pd.5456DOI Listing
June 2019

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

J Med Genet 2019 08 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

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences.

Cytogenet Genome Res 2017 22;153(3):117-124. Epub 2017 Dec 22.

Laboratoire de Cytogénétique Constitutionnelle, Service de Génétique, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1159/000485392DOI Listing
March 2018

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.

BMC Med Genet 2017 Jan 31;18(1). Epub 2017 Jan 31.

Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-017-0371-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282903PMC
January 2017

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

Cytogenet Genome Res 2015 16;147(2-3):111-7. Epub 2015 Dec 16.

Laboratoire de Cytogx00E9;nx00E9;tique Constitutionnelle, Service de Gx00E9;nx00E9;tique, Centre de Biologie et de Pathologie Est, Bron, France.

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http://dx.doi.org/10.1159/000442265DOI Listing
August 2016

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

Am J Med Genet A 2015 Jan 25;167A(1):164-8. Epub 2014 Nov 25.

Department of Genetics, Lyon University Hospital, Lyons, France.

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http://dx.doi.org/10.1002/ajmg.a.36759DOI Listing
January 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

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

PLoS One 2013 11;8(10):e76054. Epub 2013 Oct 11.

«Genetics of Breast Cancer» team, Cancer Research Centre of Lyon, CNRS UMR5286, Inserm U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France ; Genomic Vision, Bagneux, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0076054PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795722PMC
July 2014

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Am J Med Genet A 2013 Oct 5;161A(10):2564-9. Epub 2013 Aug 5.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36079DOI Listing
October 2013

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Am J Med Genet A 2013 Feb 15;161A(2):331-7. Epub 2013 Jan 15.

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France.

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http://doi.wiley.com/10.1002/ajmg.a.35708
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http://dx.doi.org/10.1002/ajmg.a.35708DOI Listing
February 2013

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Haematologica 2013 Jan 12;98(1):e7-8. Epub 2012 Oct 12.

Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils and Université Claude Bernard-Lyon 1, Lyon, France.

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http://dx.doi.org/10.3324/haematol.2012.071167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533668PMC
January 2013

An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Am J Med Genet A 2012 Feb 7;158A(2):400-5. Epub 2011 Dec 7.

Hospices Civils de Lyon, Service de Génétique Moléculaire et Clinique, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.34222DOI Listing
February 2012

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells.

Nucleus 2010 Jan-Feb;1(1):30-6

Laboratoire de Biologie Moléculaire de la Cellule, CNRS UMR5239, Ecole Normale Supérieure de Lyon, UCBL1, Lyon, France.

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http://dx.doi.org/10.4161/nucl.1.1.10799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035130PMC
June 2012

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

Am J Med Genet A 2010 May;152A(5):1278-82

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.33316DOI Listing
May 2010

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Am J Med Genet A 2009 Nov;149A(11):2584-7

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.32772DOI Listing
November 2009

Distal Xq duplication and functional Xq disomy.

Orphanet J Rare Dis 2009 Feb 20;4. Epub 2009 Feb 20.

Hospices Civils de Lyon, Centre de Biologie et de Pathologie Est, Service de Cytogénétique Constitutionnelle, Lyon, France.

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http://dx.doi.org/10.1186/1750-1172-4-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649904PMC
February 2009

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Eur J Med Genet 2008 Mar-Apr;51(2):156-64. Epub 2007 Dec 24.

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle - Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677 Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.003DOI Listing
June 2008