A. J. , Concomitant periodontal disease and dental caries in young adult males, Proc Finn Dent Soc, vol.66, issue.6, pp.303-366, 1970.

A. , K. , and W. , Periodontal findings in Cohen syndrome with chronic neutropenia, J Periodontol, vol.68, issue.5, pp.473-481, 1997.

A. , B. , and G. Lj, Periodontal disease progression in teen-agers with no preventive dental care provisions, Clin Periodont, vol.18, issue.5, pp.300-304, 1991.

B. , L. Ae, and D. E. Ravel-tj, Deletions in the VPS13B (COH1) Gene as a Cause of Cohen Syndrome. Human genome variation society, vol.30, pp.845-854, 2009.

B. , K. Gg, Z. Jj, G. Rj, and T. Ge, Evaluation of oral bacteria as risk indicators for periodontitis in older adults, J Periodontol, vol.63, issue.2, pp.93-99, 1992.

B. , Parodontologie : du diagnostic à la pratique. Paris ; Bruxelles : De Boeck et Larcier, vol.289, 1996.

B. Acb, L. Sc, and O. Sa, Enamel opacities removal using two different acids: an in vivo comparison, J Clin Pediatr Dent, vol.29, issue.2, pp.147-50, 2005.

B. and R. A. Biochimie, , p.235, 1987.

B. Benrachadi-l and E. Ok, Maladies hématologiques : manifestations parodontales et prise en charge, Rev Odonto Stomatol, vol.31, pp.299-320, 2002.

B. Barca-d and C. Sm, Cohen syndrome-a rare genetic cause of hypotonia in children, Maedica (Buchar), vol.5, issue.1, pp.56-61, 2010.

B. Gr, Atlas de poche d'immunologie. Paris: Flammarion médecine-sciences, p.282, 2000.

B. B. Research, Science and Therapy Committee of the American Academy of Periodontology. Position paper: epidemiology of periodontal diseases, J Periodontol, vol.76, issue.8, pp.1406-1419, 2005.

C. , Biologie cellulaire en 30 fiches. Paris : Dunod, p.89, 2009.

C. Ke and C. , Does a Jewish type of Cohen syndrome truly exist?, Am J Med Genet, vol.111, issue.4, pp.453-454, 2002.

C. Ke, A. L. Kidd-a, K. J. Gazali-l, L. Ae, and C. Black-gc, Diagnostic criteria clinical characteristics, and natural history of Cohen syndrome, J Med Genet, vol.40, issue.4, pp.233-241, 2003.

C. Barsotti-o and B. , Microbiologie en odonto-stomatologie, vol.329, 2006.

C. La, G. Sg, D. Rg, M. Ee, and G. Rj, Dental plaque and calculus: risk indicators for their formation, Dent Res, vol.71, issue.7, pp.1425-1430, 1992.

C. Mm, H. Bd, S. Dw, G. Cb, and L. Kj, A new syndrome with hypotonia, obesity, mental deficiency and facial, oral, ocular and limb anomalies, J Pediatr, vol.83, issue.2, pp.280-284, 1973.

C. G. , La cellule une approche moléculaire, pp.365-370, 1999.

D. Cg, Resolution of cyclosporin A (CsA)-induced gingival enlargement following reduction in CsA dosage, Clin Periodontol, vol.19, issue.2, pp.143-145, 1992.

D. A. Silva-sm, Esthetic improvement following enamel microabrasion on fluorotic teeth: a case report, Quintessence Int, vol.33, issue.5, pp.366-375, 2002.

D. , J. Gn, and T. Ch, The nomenclature of the integuments of the enamel surface of teeth, Br Dent, vol.115, pp.65-68, 1963.

D. , D. S. , and P. , Cohen syndrome is associated with major glycosylation defects, Hum Mol Genet, vol.23, issue.9, pp.2391-2400, 2014.

E. , B. E. , and H. , Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis, Eur J Hum Gen, vol.21, issue.7, pp.736-742, 2013.

F. Jm, W. H. , and T. E. Cohen-syndrome, , 2006.

. Disponible,

F. , F. Jp, and C. , Cohen syndrome, an autosomal recessive disease?, Arch Fr Pediatr, vol.39, issue.3, pp.159-60, 1982.

. Friedman-e, The Cohen syndrome report of five new cases and review of the literature, J Craniofac Genet Dev Biol, vol.2, issue.3, pp.193-200, 1982.

G. , L. Lp, and C. Lillo-o.-cohen-syndrome, , 2004.

G. , P. , and C. Lillo-o, New oral findings in Cohen syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, vol.95, pp.681-87, 2003.

G. Rj, C. Mmj, and L. Ls, Syndromes the Head and Neck, pp.130-866, 1990.

G. Lw, T. Ww, and H. Marks-b, Periodontal disease as a function of life events stress. Hum Stress, vol.12, pp.32-36, 1986.

G. Gs, W. Jma, and C. Ma, Detection of high-risk groups and individuals for periodontal diseases. Clinical assessment of the periodontium, J Clinical Periodontol, vol.15, issue.7, pp.403-410, 1988.

H. , S. M. Löe, and H. , Clinical course of chronic periodontitis. II. Incidence, characteristics and time of occurrence of the initial periodontal lesion, J Clin Periodontol, vol.30, issue.10, pp.902-908, 2003.

H. Hc and R. Seifert-w, Allelic Heterogeneity in the COH1

, Gene Explains Clinical Variability in Cohen Syndrome, Am J Hum Genet, vol.75, issue.1, pp.138-145, 2004.

K. A. Horn-d and K. J. Reis-a, Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity, Am J Med Genet, vol.92, issue.4, pp.285-92, 2000.

H. Gm, H. Cl, and L. , The prevalence of periodontitis in a military treatment population, Am Dent Assoc, vol.121, issue.5, pp.616-622, 1990.

H. Pirinen-s, K. , and K. , Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients, Clin Genet, vol.62, issue.2, pp.157-64, 2002.

I. Am and C. Cw, Pathophysiological relationships between periodontitis and systemic disease: recent concepts involving serum lipids, J Periodontol, vol.71, issue.8, pp.1375-1384, 2000.

K. D. , Periodontitis modified by systemic factors, Ann Periodontol, vol.4, issue.1, pp.54-63, 1999.

K. and N. , Cohen syndrome: essential features, natural history, and heterogeneity, Am J Med Genet, vol.102, issue.2, pp.125-160, 2001.

K. , R. J. , and J. E. , Granulocytopenia in Cohen syndrome, Br J Haematol, vol.98, issue.2, pp.308-319, 1997.

K. Black-gc and . Saarinen-a, Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesiclemediated sorting and intracellular protein transport, Am J Hum Genet, vol.72, issue.6, pp.1359-1369, 2003.

K. Wilkinson-r and L. Ae, Delineation of Cohen syndrome following a large-scale genotype-phenotype screen, Am J Hum Genet, vol.75, issue.1, pp.122-127, 2004.

K. , N. S. , and M. , The Cohen syndrome: does a mottled retina separate a Finnish and a Jewish type?, Am J Med Genet, vol.37, issue.1, pp.109-113, 1990.

K. Shimizu-a and A. , COH1 analysis and linkage study in two Japanese families with Cohen syndrome, Clin Genet, vol.67, issue.3, pp.270-272, 2005.

K. Bg, Cohen syndrome: further delineation and inheritance, Am J Med Genet, vol.9, issue.1, pp.25-30, 1981.

L. Ma, H. Mayo, and . Tremblay-r, Development of dental plaque on epoxy resin 102 crowns in man. A light and electron microscopic study, J Periodontol, vol.46, issue.1, pp.10-26, 1975.

L. H. Anerud-a, H. Boysen, and S. M. , The natural history of periodontal disease in man. Therate of periodontal destruction before 40 years of age, J Periodontol, vol.49, issue.12, pp.607-620, 1978.

L. , T. E. , and J. Sb, Experimental gingivitis in man, J Periodontol, vol.36, pp.177-187, 1965.

M. , T. , and C. M. , Enamel microabrasion in an individual with Cohen syndrome, Spec Care Dentist, vol.28, issue.3, pp.116-119, 2008.

M. S. Biologie, , pp.80-81, 2010.

M. and B. L. Solis-a, A familiar syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome, Genet Couns, vol.8, issue.4, pp.311-317, 1997.

M. Gh and R. A. , Broader geographical spectrum of Cohen syndrome due to COH1 mutations, J Med Genet, vol.41, issue.6, p.87, 2004.

N. R. , The Finnish disease heritage I : Characteristics, causes, background. Hum Genet, vol.112, pp.441-456, 2003.

N. , R. C. , and L. E. , Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity, Clin Genet, vol.25, issue.1, pp.1-14, 1984.

O. , S. Wa, and C. Jo, Prostaglandins and other eicosanoids in gingival crevieular fluid as markers of periodontal disease susceptibility and activity, JOHNSON NW, vol.3, pp.313-337, 1991.

P. Rc, The role of inflammatory mediators in the pathogenesis of periodontal disease, J Periodontal Res, vol.26, issue.3, pp.230-242, 1991.

P. Rd, O. Nm, and R. Ec, Host immune responses to Porphyromonas gingivalis antigens, Periodontol, vol.52, issue.1, pp.218-237, 2000.

P. , H. Klein, W. , S. , and W. Microbiologie, Bruxelles : De boeck Supérieur, pp.84-86, 2010.

P. Kumar-p and C. Cw, Lipopolysaccharides from distinct pathogens induce different classes of immune responses in vivo, J Immunol, vol.167, issue.9, pp.5067-5076, 2001.

R. , A. D. , and W. , Cohen syndrome diagnosis using whole genome arrays, J Med Genet, vol.48, issue.2, pp.136-140, 2011.

S. Friedman-e, The Cohen syndrome in Israel, Israel J Med Sci, vol.22, issue.11, pp.766-770, 1986.

S. Lw, F. L. , W. Fr, and H. Lb, Marginal alveolar bone height in an adult Swedish population. A radiographie cross-sectional epidemiologie study, J Clin Periodontol, vol.18, issue.4, pp.223-232, 1991.

D. Segura-a, . Kj, and J. S. Wefell, The effects of microabrasion on demineralization inhibition of enamel surfaces, Quintessence Int, vol.28, issue.7, pp.463-466, 1997.

S. , H. , and K. , Expanded mutational spectrum of cohen syndrome, tissue expression, and transcript variants of COH1, Hum Mutat, vol.30, issue.2, pp.404-424, 2009.

S. , H. , and S. , Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome, J Med Genet, vol.43, issue.5, p.22, 2006.

S. Wk, B. Pm, Y. H. Thong, and T. K. , Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colonystimulating factor (G-CSF): case reports, Pediatr Dent, vol.20, issue.5, pp.350-354, 1998.

S. , Periodontal disease in pregnancy. II. Correlation between oral hygiene and periodontal condition, Acta Odontot Scand, vol.24, pp.747-75, 1966.

L. J. Stevens-a and . Histologie, Bruxelles : De Boeck, pp.19-22, 1999.

T. Norio-r and K. E. , Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis, Nat Genet, vol.7, issue.2, pp.201-204, 1994.

T. Knuuttlla and M. Nieminen-p, Risk factors associated with abundantdental caries and periodontal pocketing, Commun Dent Orat Epidemiot, vol.19, issue.2, pp.82-87, 1991.

, Union Francaise de Santé Bucco-Dentaire

V. , V. A. , and C. Rr, Stone Analysis of the human VPS13 gene family, Genomics, vol.84, issue.3, pp.536-549, 2004.

W. Gehring-w, Biologie et physiologie animales: bases moléculaires, cellulaires, anatomiques et fonctionnelles. Bruxelles : De Boeck, p.16, 1999.

W. J. , G. Gs, and C. Ma, Detection of high-risk groups and individuals for periodontal diseases, J Clin Periodontol, vol.15, issue.6, pp.339-346, 1988.

W. , R. E. , and R. K. Parodontologie,

T. Des-matieres,

S. .. ,

. .. Index-des-figures,

.. .. Index-des-tableaux,

P. Du-syndrome-de-cohen and .. .. ,

. Rappel-sur-le-fonctionnement-de-l'appareil-de-golgi, , vol.8, p.69

. , 22Modification des chaines oligosaccharidiques portées par les protéines

. , Mutation du gène VPS13B (COH1) : un gène codant une protéine membranaire de l'appareil de Golgi

]. .. ,

. , Les 8 critères selon Kolehmainen et coll

. .. Retard-de-développement, du tronc avec extrémités effilées [15], vol.15, p.37

]. .. ,

. .. La-maladie-parodontale,

]. .. ,

. , Les facteurs de susceptibilité des maladies parodontales

.. .. Les-facteurs-non-modulables,

]. .. , Age, vol.6, p.71

. .. Les-facteurs-modulables,

.. .. ,

. , La réaction immunitaire : la réponse de l'hôte

]. .. ,

]. .. , natural killer (NK) [11, 16], Les granulocytes neutrophiles (PMN, p.61

.. .. Immunité-spécifique, métalloprotéinases matricielles (MMP) [57, 76], 65 ? 3.4 Données actuelles retrouvées dans la littérature sur les répercussions orales et le phénotype buccal des patients atteints du syndrome de Cohen, vol.38, p.76

]. .. , 70 ? Corrélation entre la perte osseuse parodontale et la flore microbienne sous gingivale despatients SC

. Thérapie-par-le-g-csf,

. , Répercussions sur la qualité de l'émail, vol.50, p.64

P. .. ,

. .. L'hypothèse,

. .. Objectifs,

. .. Groupe-de-patients,

. .. Critères-d'inclusion,

. .. Critères-d'exclusion,

.. .. Interrogatoire,

.. .. Examen-dentaire,

. .. Clinique,

. .. Radiologique, , vol.87

.. .. Examen-biologique, , vol.87

.. .. Analyses,

.. .. Données-epidémiologiques,

. .. Cliniques,

. .. Biologiques,

, Données comparatives entre les sujets neutropéniques sévères et neutropéniques modérés ou faibles ??????????????????????????????????????????92

. .. Discussion,

B. .. ,

L. .. Des-abreviations,

-. Marcelet-anahide and . De, Nancy date : 116 pages-16 figures-4 tableaux Thèse : Chir.-Dent, 2016.

. Mots,

A. Monsieur,

D. Monsieur and . Joseph-maître-de,

J. Madame and . Guillet-thibault-maître-de, Conférences des Universités Juge Adresse de l'auteur : Marcelet Anahide 9

. Autorise-À-soutenir and N. Imprimer-la-thèse, , 1929.