Jean-Louis Blouin

Jean-Louis Blouin

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Jean-Louis Blouin

Jean-Louis Blouin

Publications by authors named "Jean-Louis Blouin"

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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Pediatr Diabetes 2019 05 17;20(3):366-369. Epub 2019 Feb 17.

Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, University Hospitals of Geneva, Geneva, Switzerland.

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http://doi.wiley.com/10.1111/pedi.12814
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http://dx.doi.org/10.1111/pedi.12814DOI Listing
May 2019

Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes.

Horm Res Paediatr 2018 18;90(4):270-274. Epub 2018 Apr 18.

Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1159/000488107DOI Listing
April 2019

Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.

Swiss Med Wkly 2017 8;147:w14535. Epub 2017 Nov 8.

Paediatric Endocrine and Diabetes Unit, University Hospitals of Geneva, Switzerland, and Diabetes Centre of the Faculty of Medicine, University of Geneva, Switzerland.

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http://dx.doi.org/10.4414/smw.2017.14535DOI Listing
July 2018

Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory.

Anal Biochem 2018 02 11;542:34-39. Epub 2017 Nov 11.

Molecular and Genomic Diagnostic Laboratory, Service of Medical Genetics, Department of Genetic Medicine, Laboratory Medicine and Pathology, University Hospitals of Geneva, CH-1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ab.2017.11.004DOI Listing
February 2018

Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant.

Horm Res Paediatr 2015 28;84(4):283-8. Epub 2015 Aug 28.

Neonatology and Intensive Care Unit, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1159/000437378DOI Listing
September 2016

The Effect of β2-Adrenoceptor Genotype on Phenylephrine Dose Administered During Spinal Anesthesia for Cesarean Delivery.

Anesth Analg 2015 Jun;120(6):1309-16

From the *Department of Anesthesiology, Columbia University College of Physicians and Surgeons, New York, New York; and †Division of Medical Genetics, University of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1213/ANE.0000000000000675DOI Listing
June 2015

Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy.

Pediatr Diabetes 2015 Mar 19;16(2):138-45. Epub 2014 Feb 19.

Division of Endocrinology Diabetology and Obesity, Department of Pediatrics, University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/pedi.12128DOI Listing
March 2015

Pure interstitial dup(6)(q22.31q22.31) - a case report.

Ital J Pediatr 2015 Jan 31;41. Epub 2015 Jan 31.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India.

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http://dx.doi.org/10.1186/s13052-015-0113-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966PMC
January 2015

Next generation diagnostics on cardiomyopathy.

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. Epub 2014 Jan 21.

Genetic Medicine, University Hospitals of Geneva, Switzerland.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044414PMC
June 2014

Contamination of amniotic fluid with maternal balanced t(11;22) translocation cells.

Am J Med Genet A 2013 May 26;161A(5):1101-4. Epub 2013 Feb 26.

Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.35774DOI Listing
May 2013

The effect of OPRM1 and COMT genotypes on the analgesic response to intravenous fentanyl labor analgesia.

Anesth Analg 2013 Feb 9;116(2):386-91. Epub 2013 Jan 9.

Department of Anesthesiology and Pain Medicine, University of Washington, Medical Center, 1959 NE Pacific Street, Suite BB 1415B, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1213/ANE.0b013e318273f2c7DOI Listing
February 2013

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

Hum Mutat 2012 Mar 29;33(3):495-503. Epub 2011 Dec 29.

Primary Ciliary Dyskinesia Group, Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton NIHR Respiratory Biomedical Research Unit, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/humu.22001DOI Listing
March 2012

Beta-2 adrenoceptor genotype and progress in term and late preterm active labor.

Am J Obstet Gynecol 2011 Aug 2;205(2):137.e1-7. Epub 2011 Apr 2.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.ajog.2011.03.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192244PMC
August 2011

DNAI1 mutations explain only 2% of primary ciliary dykinesia.

Respiration 2008 23;76(2):198-204. Epub 2008 Apr 23.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1159/000128567DOI Listing
November 2008

Candidate gene analysis in three families with acilia syndrome.

Am J Med Genet A 2008 Jul;146A(13):1765-7

Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32340DOI Listing
July 2008

beta2-adrenoceptor genotype affects vasopressor requirements during spinal anesthesia for cesarean delivery.

Anesthesiology 2006 Apr;104(4):644-50

Clinical Anesthesiology, Department of Anesthesiology, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1097/00000542-200604000-00006DOI Listing
April 2006

Double frameshift mutations in APC and MSH2 in the same individual.

Int J Colorectal Dis 2006 Jan;21(1):79-83

Clinic of Visceral Surgery, Geneva University Hospital, Geneva, Switzerland.

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http://www.springerlink.com/index/k5546u32q0755521.pdf
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January 2006

Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor.

Clin Pharmacol Ther 2005 Dec;78(6):656-63

Division of Anesthesiology and Department of Obstetrics and Gynecology, University Hospital of Geneva, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.clpt.2005.08.021DOI Listing
December 2005

Double frameshift mutations in APC and MSH2 in the same individual.

Int J Colorectal Dis 2005 Sep;20(5):466-470

Clinic of Visceral Surgery, Geneva University Hospital, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s00384-005-0772-zDOI Listing
September 2005

A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.

Ann Neurol 2004 Sep;56(3):382-8

Service de Neurologie B, Hôpital Gui-de-Chauliac, Montpellier, France.

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http://dx.doi.org/10.1002/ana.20208DOI Listing
September 2004

Genetic variability of mu-opioid receptor in an obstetric population.

Anesthesiology 2004 Apr;100(4):1030-3

Division d'Anesthésiologie, Département of Anesthesiology, Pharmacology, and Surgical Intensive Care, Hôpitaux Universitaires de Genève, Geneva, Switzerland.

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http://dx.doi.org/10.1097/00000542-200404000-00042DOI Listing
April 2004

Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum.

Am J Med Genet A 2003 Aug;121A(2):159-62

Clinic of Digestive Surgery, Geneva University Hospital, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.20106DOI Listing
August 2003

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.

Am J Hum Genet 2003 Jul 11;73(1):49-62. Epub 2003 Jun 11.

Neuropsychiatric Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180589PMC
http://dx.doi.org/10.1086/376547DOI Listing
July 2003

Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.

Am J Med Genet B Neuropsychiatr Genet 2003 May;119B(1):44-7

Department of Geriatrics, Belle-Idée Hospital Center, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.b.10010DOI Listing
May 2003

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Am J Med Genet A 2003 Mar;117A(2):143-6

Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.10024DOI Listing
March 2003

Is genetic analysis useful in the routine management of hydatidiform mole?

Hum Reprod 2003 Feb;18(2):243-9

Department of Gynecology and Obstetrics, University Hospitals of Geneva, Boulevard de la Cluse 30, 1211 Geneva 14, Switzerland.

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http://dx.doi.org/10.1093/humrep/deg091DOI Listing
February 2003