Results 21 to 30 of about 101,532 (231)

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis [PDF]

, 2001
Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas.
Dertinger, S., Ruebsamen, H., Lohse, P., Beck, M., Tautermann, G., Drexel, H.   +5 more
core   +1 more source

Prevalence of autoantibodies in a group of hereditary angioedema patients Prevalência de autoanticorpos em uma população com angioedema hereditário

Anais Brasileiros de Dermatologia, 2012
Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well ...
Sergio Duarte Dortas Junior, Solange Oliveira Rodrigues Valle, Soloni Afra Pires Levy, Rosangela P. Tortora, Augusto Tiaqui Abe, Gisele Viana Pires, José Angelo de Souza Papi, Alfeu Tavares França   +7 more
doaj   +1 more source

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study [PDF]

, 2004
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses.
Monaco, AP, Porter, JR, Simpson, AHRW, Lonie, L, Porter, D E, Simpson, Hamish, Porter, DE, Porter, J R, Monaco, Anthony, Simpson, AH, Monaco, A P, Fraser, M, Dobson-Stone, C   +12 more
core   +1 more source

Hereditary angioedema prevalence and satisfaction with prophylaxis in South Australia

World Allergy Organization Journal
Background: Hereditary angioedema (HAE) due to deficiency of C1 Inhibitor (C1INH-HAE) is a rare, unpredictable and potentially fatal genetic disorder. There are relatively few systematic population prevalence studies, with reports from various countries ...
Alexander Troelnikov, MBBS, Karen Milburn, RN, Pravin Hissaria, MBBS, MD, Thanh Thao (Adriana) Le, MBBS, William Smith, MBBS, PhD   +4 more
doaj   +1 more source

The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe) : background and methodology [PDF]

, 2012
Background: Hereditary angioedema (HAE) is a rare but serious disease marked by swelling attacks in the extremities, face, trunk, airway, or abdominal areas that can be spontaneous or the result of trauma and other triggers.
Beusterien, Kathleen, Caballero, Teresa, Boysen, Henrik, Boysen, Henrik B., Musingarimi, Patience, Emel Aygören-Pürsün, Kathleen Beusterien, Gholizadeh, Shadi, Bygum, Anette, Wait, Suzanne, Patience Musingarimi, Aygören-Pürsün, Emel, Teresa Caballero, Suzanne Wait, Henrik Boysen, Anette Bygum, Shadi Gholizadeh, Bygum, Anette; id_orcid   +17 more
core   +2 more sources

Hereditary angioedema: Not an allergy

Indian Journal of Dermatology, 2012
Hereditary angioedema is a genetic disorder due to a deficiency or malfunction of C1 esterase inhibitor. We herein describe a case of 25-year-old male who presented with swelling over face since one day. There was history of similar episodes since two years with gradual subsidence of swelling without any treatment.
Sanjay Bhivgade, Shubha Melkote, Smita Ghate, H R Jerajani   +3 more
openaire   +3 more sources

Anesthetic Management of Labor in a Woman with Hereditary Angioedema

Acta Médica Portuguesa
N/a.
Inês P. Rodrigues, Maria M. Armindo, Luísa Marinho   +2 more
doaj   +1 more source

Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies [PDF]

, 2005
Includes bibliographical references.Families with hereditary non-polyposis colorectal carcinoma (HNPCC) are not uncommon along the West-Coast of South Africa.
Holm, Hannes
core   +1 more source

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy [PDF]

, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L.   +219 more
core   +1 more source