Laurence Cuisset

Laurence Cuisset

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Laurence Cuisset

Laurence Cuisset

Publications by authors named "Laurence Cuisset"

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Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.

J Clin Endocrinol Metab 2016 12 23;101(12):4895-4903. Epub 2016 Sep 23.

Assistance Publique-Hôpitaux de Paris (M.C., J.-M.O., K.C., C.P.), Pitié-Salpêtrière Hospital, Nutrition Department, French Reference Centre for Prader-Willi Syndrome, and Institute of Cardiometabolism and Nutrition (J.-M.O., K.C., C.P.), Sorbonne University, Université Pierre et Marie Curie, Unité Mixte de Recherche 1166, Nutriomic Team Pitié-Salpêtrière Hospital, Paris F-75013, France; Department of Endocrinology, Bone Diseases, Genetics, and Gynaecology (M.T.), Children's Hospital, French Reference Centre for Prader-Willi Syndrome, Toulouse F-31059 France and Université Paul Sabatier, Toulouse III F-31062, France; Inserm (M.T.), 1043 Team 12, Human Physiopathology Centre, and Department of Medical Genetics (E.B.), Purpan Hospital, Toulouse F-31059, France; Assistance Publique-Hôpitaux de Paris (L.C.), Laboratory of Biochemistry and Molecular Genetics, Institut Cochin and Cochin Hospital, Université Paris Descartes, Paris F-75014, France; Assistance Publique-Hôpitaux de Paris (V.L.), French Reference Center for Prader-Willi Syndrome, Hôpital Marin d'Hendaye, Hendaye F-64701, France; and Assistance Publique-Hôpitaux de Paris (J.-M.L.), Pitié-Salpêtrière Hospital, Department of Endocrine and Oncology Biochemistry, Paris F-75013 France.

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http://dx.doi.org/10.1210/jc.2016-2163DOI Listing
December 2016

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

Medicine (Baltimore) 2016 Mar;95(11):e3027

From the Internal Medicine Department, Edouard Herriot Hospital, Lyon (C-AD, BC, JN, M-HG-M, AH); Internal Medicine Department, Côte de Nacre Hospital, Caen (AA, BB, SD); Medicine and Rheumatology Department, Saint-Louis Hospital, La Rochelle (BG); Inborn Errors of Metabolism Laboratory, Civil Hospital of Lyon, Bron (CA-B); Internal Medicine Department, Claude Huriez Hospital, Lille (EH, P-YH); Polyvalent Medicine Department, Cornouaille Hospital Center, Quimper (FL, PH); Autoinflammatory Diseases Medical Unit, Arnaud Villeuneuve Hospital, Montpellier (IT); Nephrology Department, Metropole Savoie Hospital Center, Chambéry (J-BP); Rheumatology Department, Louis Pasteur Hospital, Colmar (LM); Hematology Department, Arras Hospital Center, Arras, France (MB); Internal Medicine Department, Sart Tilman, Liège, Belgique (MM); Dermatology and Allergology Department, Saint-Eloi Hospital, Montpellier (NR-P); Internal Medicine Department, Saint-André Hospital, Bordeaux (PD); Nephrology Department, Lyon Sud Hospital Center, Pierre-Bénite (PT); Hematology Department, Princesse Grace Hospital Center, Monaco (PH); Internal Medicine Department, Saint-Vincent Hospital Center, Strasbourg (RC); Rheumatology Department, Charles Nicole Hospital, Rouen (TL); Department of Pediatrics, Necker-Enfants Malades Hospital, Paris (VB); Diabetology and Internal Medicine Department, Blois Hospital Center, Blois (VL); Internal Medicine Department, Bocage Central, Dijon (SA); Service de Biostatistique, Hospices civiles de Lyon, Université de Lyon 1, Villeurbanne; CNRS, UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique-Santé, Villeurbanne (DM-B); and Department of Biochemical Genetics, Hospital and Institut Cochin, Paris (LC), France.

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http://dx.doi.org/10.1097/MD.0000000000003027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839898PMC
March 2016

Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.

J Dermatol Sci 2014 Sep 19;75(3):208-9. Epub 2014 Jun 19.

Laboratoire de Biochimie et Génétique Moléculaire, APHP, Paris, France; Institut Cochin, INSERM U1016-Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.jdermsci.2014.06.002DOI Listing
September 2014

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Am J Clin Pathol 2014 Aug;142(2):248-53

From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; Paris Descartes University, Faculty of Medicine, Paris, France;

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https://academic.oup.com/ajcp/article/142/2/248/1767056
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http://dx.doi.org/10.1309/AJCPBLMPRXKU1JUEDOI Listing
August 2014

CINCA syndrome in an infant presenting with hydrocephalus.

Int J Rheum Dis 2014 Mar 14;17(3):346-8. Epub 2014 Feb 14.

Department of Pediatrics, Faculty of Medicine, Bezmialem Vakif University.

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http://dx.doi.org/10.1111/1756-185X.12308DOI Listing
March 2014

Severe early-onset colitis revealing mevalonate kinase deficiency.

Pediatrics 2013 Sep 26;132(3):e779-83. Epub 2013 Aug 26.

Departments of Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital and University, Paris 19, Paris, France.

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http://dx.doi.org/10.1542/peds.2012-3344DOI Listing
September 2013

Muckle-Wells syndrome and male hypofertility: a case series.

Semin Arthritis Rheum 2012 Dec 17;42(3):327-31. Epub 2012 Apr 17.

Department of Pediatrics, Pediatric Rheumatology, Reference Center for AutoInflammatory Diseases CEREMAI, Bicêtre Hospital, Assistance Publique des Hôpitaux de Paris, Université Paris Sud, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.semarthrit.2012.03.005DOI Listing
December 2012

First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

Am J Med Genet A 2012 Mar 2;158A(3):617-21. Epub 2012 Feb 2.

Groupe Hospitalier Cochin, Broca, Hôtel Dieu, APHP-Laboratoire de Cytogénétique, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.34416DOI Listing
March 2012

Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation.

Eur Cytokine Netw 2009 Sep;20(3):101-7

Laboratoire Inflammation, Tissus Epithéliaux et Cytokines, EA 4331, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1684/ecn.2009.0163DOI Listing
September 2009

A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever.

J Rheumatol 2009 Aug 16;36(8):1677-81. Epub 2009 Jun 16.

Service de médecine interne, Hôpital Tenon, 4 rue de la Chine, F-75020 Paris, France.

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http://dx.doi.org/10.3899/jrheum.081313DOI Listing
August 2009

A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.

Pediatr Nephrol 2007 Sep 8;22(9):1391-4. Epub 2007 May 8.

Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey.

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http://link.springer.com/10.1007/s00467-007-0500-8
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http://dx.doi.org/10.1007/s00467-007-0500-8DOI Listing
September 2007

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Am J Med Genet A 2007 Jun;143A(11):1236-43

AP-HP, Hôpital Cochin, Service Histologie Embryologie Cytogénétique, Université Paris-Descartes, Faculté de Médecine, Unité INSERM U709, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31744DOI Listing
June 2007

Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra.

Arthritis Rheum 2006 May;54(5):1697-700

Claude-Huriez Hospital, Department of Internal Medicine, National Center for Vascular Manifestations of Scleroderma, Lille 2 University, Lille, France.

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http://dx.doi.org/10.1002/art.21807DOI Listing
May 2006

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.

J Rheumatol 2005 Apr;32(4):747-51

Departement de medecine de l'Enfant et de l'Adolescent, Service de Dermatologie, Centre Hospitalier Regional et Universitaire de Rennes, Rennes, France.

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April 2005

Amyloidosis and auto-inflammatory syndromes.

Curr Drug Targets Inflamm Allergy 2005 Feb;4(1):57-65

Service de médecine interne, L'Hôtel-Dieu, Assistance publique-hôpitaux de Paris, Paris, France.

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February 2005

[Hereditary intermittant fever].

Presse Med 2004 Oct;33(17):1195-206

Service de médecine interne, Hôtel-Dieu, Assistance publique-Hôpitaux de Paris.

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October 2004

TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis.

J Nephrol 2003 May-Jun;16(3):435-7

Department of Biochemical Genetics, Cochin Hospital, Paris.

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July 2003

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

Am J Med Genet 2002 Sep;111(4):405-8

Histologie Embryologie Cytogénétique, CHU Cochin, AP-HP-Université Paris 5, France.

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http://dx.doi.org/10.1002/ajmg.10570DOI Listing
September 2002

[Hereditary intermittent fevers, other than familial Mediterranean fevers].

Rev Prat 2002 Jan;52(2):155-9

Service de médecine interne L'Hôtel-Dieu 75181 Paris.

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January 2002