Publications by authors named "Patrick Edery"

100Publications

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Hum Genomics 2020 Sep 18;14(1):32. Epub 2020 Sep 18.

Lyon Hospitals, Genetics Service and National Reference Centre for Developmental Anomalies, Lyon, France.

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http://dx.doi.org/10.1186/s40246-020-00281-5DOI Listing
September 2020

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Eur J Med Genet 2020 Aug 28;63(11):104044. Epub 2020 Aug 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France; Equipe GENDEV, CRNL, INSERM U1028 CNRS UMR5292 Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104044DOI Listing
August 2020

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Hum Mutat 2020 Sep 15;41(9):1499-1506. Epub 2020 Jul 15.

Service de Génétique, Centre de Référence Anomalies du Développement et Centre de Compétences Maladies Osseuses Constitutionnelles, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/humu.24070DOI Listing
September 2020

Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.

J Clin Med 2020 Mar 6;9(3). Epub 2020 Mar 6.

Service de Génétique, Unité de Génétique Clinique, Centre de Compétence Syndrome de Marfan et apparentés, Hospices Civils de Lyon, 69500 Bron, France.

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http://dx.doi.org/10.3390/jcm9030721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141252PMC
March 2020

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Eur J Med Genet 2020 Apr 12;63(4):103812. Epub 2019 Nov 12.

CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France; CHU Lille, Clinique de Génétique - Guy Fontaine, F-59000, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103812DOI Listing
April 2020

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

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

J Genet Couns 2019 10 16;28(5):1011-1020. Epub 2019 Jul 16.

Center of Clinical Psychology, Psychopathology and Psychosomatic Research, Free University of Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1002/jgc4.1153DOI Listing
October 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

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

Eur J Med Genet 2019 Nov 30;62(11):103565. Epub 2018 Oct 30.

Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, F-69677, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183055
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http://dx.doi.org/10.1016/j.ejmg.2018.10.017DOI Listing
November 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

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

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

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

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 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

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

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Hum Mol Genet 2015 Dec 10;24(23):6603-13. Epub 2015 Sep 10.

Génétique des Anomalies du Développement GAD EA4271, Univeristé de Bourgogne Franche-Comté, F-21000 Dijon, France, FHU TRANSLAD, Département de Génétique, Hôpital d'enfants, CHU Dijon, F-21000 Dijon, France,

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http://dx.doi.org/10.1093/hmg/ddv366DOI Listing
December 2015

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Orphanet J Rare Dis 2015 Sep 4;10:111. Epub 2015 Sep 4.

Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France.

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http://dx.doi.org/10.1186/s13023-015-0330-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559928PMC
September 2015

Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome.

Eur Child Adolesc Psychiatry 2016 Mar 7;25(3):297-310. Epub 2015 Jul 7.

Centre de dépistage et de prises en charge des troubles psychiatriques d'origine génétique, Centre Hospitalier Le Vinatier, BP 30039, 95 Boulevard Pinel, 69678, Bron Cedex, France.

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http://dx.doi.org/10.1007/s00787-015-0741-1DOI Listing
March 2016

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

2015 Nov 30;167A(11):2748-54. Epub 2015 Jun 30.

Centre de Référence des Anomalies du Développement, Service de Génétique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.37232DOI Listing
November 2015

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.

Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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http://link.springer.com/content/pdf/10.1007/s00247-014-3257
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http://link.springer.com/10.1007/s00247-014-3257-9
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http://dx.doi.org/10.1007/s00247-014-3257-9DOI Listing
July 2015

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Eur J Med Genet 2015 Feb 11;58(2):51-8. Epub 2014 Dec 11.

CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France; Department of Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.007DOI Listing
February 2015

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

BMC Med Genet 2014 Dec 11;15:132. Epub 2014 Dec 11.

Hospices Civils de Lyon, service de génétique et centre de référence des anomalies du développement, GHE, Lyon, France.

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http://dx.doi.org/10.1186/s12881-014-0132-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411819PMC
December 2014

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

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

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.

J Hematol Oncol 2014 Nov 7;7:82. Epub 2014 Nov 7.

Laboratory of Cellular and Molecular Biology, University Hospital of Besançon, 1 Bd Fleming, Batiment Diaclone, Besançon, France.

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http://dx.doi.org/10.1186/s13045-014-0082-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228180PMC
November 2014

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

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

2014 Aug 8;164A(8):2025-8. Epub 2014 Apr 8.

Department of Molecular Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36547DOI Listing
August 2014

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

2014 Jun 25;164A(6):1571-5. Epub 2014 Mar 25.

Genetics Service, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, and Eastern Biology and Pathology Centre, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.36484DOI Listing
June 2014

ZEB2, a new candidate gene for asplenia.

Orphanet J Rare Dis 2014 Jan 8;9. Epub 2014 Jan 8.

Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique et Centre de référence des anomalies du développement, Bron F-69677, France.

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http://dx.doi.org/10.1186/1750-1172-9-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891986PMC
January 2014

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Eur J Med Genet 2013 Nov 17;56(11):585-90. Epub 2013 Sep 17.

Centre de référence des anomalies du développement, Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.002DOI Listing
November 2013

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

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

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

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Eur J Hum Genet 2014 Jan 10;22(1):136-9. Epub 2013 Apr 10.

1] Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France [2] Unité INSERM U844, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865400PMC
January 2014

Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis.

Eur Spine J 2013 Jun 7;22(6):1300-11. Epub 2013 Mar 7.

Sainte-Justine Hospital Research Center, 3175, Chemin de la Cote Ste-Catherine, Montreal, Quebec, H3T 1C5, Canada.

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http://link.springer.com/10.1007/s00586-013-2728-2
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http://dx.doi.org/10.1007/s00586-013-2728-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3676547PMC
June 2013

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

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

Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.

Lung Cancer 2013 Mar 20;79(3):318-20. Epub 2012 Dec 20.

Service de pneumologie et oncologie thoracique, Hospices Civils de Lyon, CH Lyon Sud, 165 chemin du Grand Revoyet, Pierre Bénite Cédex, France.

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http://dx.doi.org/10.1016/j.lungcan.2012.11.020DOI Listing
March 2013

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

2012 Dec 19;158A(12):3174-81. Epub 2012 Nov 19.

Centre de référence des anomalies du développement, Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.35588DOI Listing
December 2012

Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer?

Clin Kidney J 2012 Oct;5(5):453-5

Centre de Référence des Maladies Rénales Rares Néphrogenes , Hospices Civils de Lyon et Université Claude-Bernard Lyon 1 , Lyon , France.

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http://dx.doi.org/10.1093/ckj/sfs069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432404PMC
October 2012

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

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

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

2011 Jul 27;155A(7):1706-11. Epub 2011 May 27.

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Groupement Hospitalier Est, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.34004DOI Listing
July 2011

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

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

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.

Pediatr Nephrol 2009 Dec 22;24(12):2449-53. Epub 2009 Jul 22.

Service de Néphrologie et Rhumatologie Pédiatriques, Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Bd Pinel, 69677 Bron Cedex, France.

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http://link.springer.com/10.1007/s00467-009-1256-0
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http://dx.doi.org/10.1007/s00467-009-1256-0DOI Listing
December 2009

Do estrogens impact adolescent idiopathic scoliosis?

Trends Endocrinol Metab 2009 May 6;20(4):147-52. Epub 2009 Apr 6.

Université de Montréal, Faculté de Médecine, Québec, Canada.

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http://dx.doi.org/10.1016/j.tem.2008.12.004DOI Listing
May 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

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Epilepsia 2008 Mar 21;49(3):509-15. Epub 2007 Nov 21.

Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, Université Paris V, Paris, France, and INSERM, U663, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01424.xDOI Listing
March 2008

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.

J Pediatr 2007 Sep 25;151(3):299-306. Epub 2007 Jul 25.

Department of Clinical Genetics and National Reference Centre of Rendu-Osler Disease, Hôtel-Dieu Hospital, Civil Hospices of Lyon, University of Claude-Bernard Lyon 1, France.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760700259
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http://dx.doi.org/10.1016/j.jpeds.2007.03.021DOI Listing
September 2007

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Eur J Med Genet 2007 May-Jun;50(3):200-8. Epub 2007 Feb 20.

Laboratoire de Génétique, Service de Génétique Moléculaire et Clinique, Bâtiment 7, Hôpital Edouard Herriot, Lyon, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.02.001DOI Listing
July 2007

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

Arch Ophthalmol 2007 Feb;125(2):213-6

Department of Ophthalmology and Service de Cytogénétique Constitutionnelle, Edouard Herriot Hospital, Place d'Arsonval, Université Claude Bernard Lyon 1, 30 rue du Professeur Florence, 69003 Lyon, France.

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http://dx.doi.org/10.1001/archopht.125.2.213DOI Listing
February 2007