Pierre Sarda

Pierre Sarda

UNVERIFIED PROFILE

Are you Pierre Sarda?   Register this Author

Register author
Pierre Sarda

Pierre Sarda

Publications by authors named "Pierre Sarda"

Are you Pierre Sarda?   Register this Author

62Publications

2407Reads

30Profile Views

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

Am J Med Genet A 2019 Nov 30;179(11):2207-2213. Epub 2019 Aug 30.

Division of Infectious Diseases, Department of Pediatrics, CHU Montpellier, Univ Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61336DOI Listing
November 2019

Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

Hum Mutat 2014 Nov 23;35(11):1311-20. Epub 2014 Sep 23.

Human Genetics, Genome Institute of Singapore, Singapore, 138672; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 117597.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22636DOI Listing
November 2014

Combined 1H-NMR and 1H-13C HSQC-NMR to improve urinary screening in autism spectrum disorders.

Analyst 2014 Jul;139(13):3460-8

Equipe neurogénétique et neurométabolomique INSERM U930, Université François Rabelais, PPF "Analyses des Systèmes Biologiques", UFR de Médecine, 10 BlvdTonnellé, 37044 Tours Cedex 9, 37000 Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1039/c4an00552jDOI Listing
July 2014

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

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.

View Article

Download full-text PDF

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

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):177-81. Epub 2013 Nov 20.

Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36166DOI Listing
January 2014

[Prader-Willi syndrome].

Authors:
Pierre Sarda

Soins Pediatr Pueric 2013 Sep-Oct(274):20-3

CHRU de Montpellier, Hôpital Arnaud-de-Villeneuve, département de génétique médicale, 71 avenue du doyen Gaston-Giraud, 34295 Montpellier cedex 5, France.

View Article

Download full-text PDF

Source
December 2013

[Support for patients and families living with a developmental disability].

Authors:
Pierre Sarda

Soins Pediatr Pueric 2013 Sep-Oct(274):24

CHRU de Montpellier, Hôpital Arnaud-de-Villeneuve, département de génétique médicale, 71 avenue du doyen Gaston-Giraud, 34295 Montpellier cedex 5, France.

View Article

Download full-text PDF

Source
December 2013

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

Talanta 2013 Sep 9;114:95-102. Epub 2013 Apr 9.

Université François-Rabelais, INSERM U930, Equipe neurogénétique et neurométabolomique, CHRU de Tours, 10 Bv Tonnellé, 37044 Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.talanta.2013.03.064DOI Listing
September 2013

GC-MS-based urine metabolic profiling of autism spectrum disorders.

Anal Bioanal Chem 2013 Jun 10;405(15):5291-300. Epub 2013 Apr 10.

INSERM U930, Equipe neurogénétique et neurométabolomique, CHRU de Tours, Hôpital Bretonneau, Université François-Rabelais, 10 Bv Tonnellé, 37044 Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00216-013-6934-xDOI Listing
June 2013

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Eur J Hum Genet 2012 May 18;20(5):580-3. Epub 2012 Jan 18.

Département de Pédiatrie spécialisée, Unité de Néphrologie et Endocrinologie pédiatrique, CHRU Montpellier, Faculté de Médecine de Montpellier-Nîmes, Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330221PMC
May 2012

[Non-medicinal care of rare diseases].

Authors:
Pierre Sarda

Presse Med 2012 May 6;41 Suppl 1:S12-4. Epub 2012 Apr 6.

CHRU de Montpellier, hôpital Arnaud-de-Villeneuve, 34295 Montpellier cedex 5, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2012.02.028DOI Listing
May 2012

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.

Fertil Steril 2011 Jun 2;95(7):2433.e17-22. Epub 2011 Mar 2.

INSERM U 847, Institute for Research in Biotherapy, CHRU Montpellier, Université Montpellier 1, and Department of Cytogenetics, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2011.01.159DOI Listing
June 2011

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

Mitochondrion 2011 Jan 4;11(1):223-7. Epub 2010 Aug 4.

Centre de Biologie et de Pathologie Est - CHU Lyon, Service des Maladies Héréditaires du Métabolisme, 69677 Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2010.07.011DOI Listing
January 2011

Epiphyseal punctate calcifications (stippling) in complete trisomy 9.

Prenat Diagn 2009 Nov;29(11):1085-8

Service de Génétique Médicale et Chromosomique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2350DOI Listing
November 2009

Identification of proteomic changes during human liver development by 2D-DIGE and mass spectrometry.

J Hepatol 2009 Jul 17;51(1):114-26. Epub 2009 Apr 17.

Institut de Recherche pour le Développement, UMR 5096 (CNRS-IRD-Université Perpignan), Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jhep.2009.02.029DOI Listing
July 2009

Prader-Willi syndrome: is there a recognizable fetal phenotype?

Prenat Diagn 2008 Sep;28(9):796-9

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1973DOI Listing
September 2008

Analysis of sperm aneuploidy by PRINS.

Methods Mol Biol 2006 ;334:49-59

Institute of Human Genetics, CNRS UPR 1142, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59745-068-5:49DOI Listing
August 2006

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

Cancer Genet Cytogenet 2004 Dec;155(2):149-51

Laboratoire de Biologie Cellulaire et Hormonale, Hôpital Arnaud de Villenueve, Centre Hospitalier Universitaire, Montpellier, cedex France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergencyto.2004.03.012DOI Listing
December 2004

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

J Cyst Fibros 2004 Dec;3(4):265-72

Laboratoire de Génétique Moléculaire, CHU de Montpellier, Institut Universitaire de Recherche Clinique (IURC), 641 avenue du Doyen Gaston Giraud, 34093 Montpellier Cedex 5, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcf.2004.04.008DOI Listing
December 2004

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

J Invest Dermatol 2003 Sep;121(3):478-81

Laboratoire de Génétique Oncologique, Institut Bergonié, 33076 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1523-1747.2003.12423.xDOI Listing
September 2003