Works matching DE "PAPILLON Lefevre syndrome"

Results: 111

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 2, p. 190, doi. 10.1111/ced.12710

By:

Sulák, A.;
Tóth, L.;
Farkas, K.;
Tripolszki, K.;
Fábos, B.;
Kemény, L.;
Vályi, P.;
Nagy, K.;
Nagy, N.;
Széll, M.

Publication type:

Article

Eponym: Papillon-Lefevre syndrome.

Published in:

2011

By:

Dalgıc, Buket;
Bukulmez, Aysegul;
Sarı, Sinan;
Dalgıc, Buket;
Sarı, Sinan

Publication type:

journal article

Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon-Lefevre syndrome.

Published in:

2011

By:

Dalgic, Buket;
Bukulmez, Aysegul;
Sari, Sinan

Publication type:

journal article

Chemometrics-Assisted UV Spectrophotometric and RP-HPLC Methods for the Simultaneous Determination of Tolperisone Hydrochloride and Diclofenac Sodium in their Combined Pharmaceutical Formulation.

Published in:

Scientia Pharmaceutica, 2013, v. 81, n. 4, p. 983, doi. 10.3797/scipharm.1306-01

By:

GOHEL, Nikunj Rameshbhai;
PATEL, Bhavin Kiritbhai;
PARMAR, Vijaykumar Kunvarji

Publication type:

Article

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1272, doi. 10.1038/ng.2444

By:

Pohler, Elizabeth;
Mamai, Ons;
Hirst, Jennifer;
Zamiri, Mozheh;
Horn, Helen;
Nomura, Toshifumi;
Irvine, Alan D;
Moran, Benvon;
Wilson, Neil J;
Smith, Frances J D;
Goh, Christabelle S M;
Sandilands, Aileen;
Cole, Christian;
Barton, Geoffrey J;
Evans, Alan T;
Shimizu, Hiroshi;
Akiyama, Masashi;
Suehiro, Mitsuhiro;
Konohana, Izumi;
Shboul, Mohammad

Publication type:

Article

Papillon-Lefèvre syndrome: report of three cases in the sam family.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 2, p. 171

By:

Keskin-Yıldırım, Zuhal;
Şimşek-Derelioğlu, Sera;
Kantarcı, Mecit;
Yılmaz, Yücel;
Büyükavcı, Mustafa

Publication type:

Article

Queratodermia espinulosa ortoqueratósica palmoplantar tipo Ila.

Published in:

Dermatología Revista Mexicana, 2011, v. 55, n. 6, p. 400

By:

Rodríguez Castellanos, Marco Antonio;
Campos Arceo, José Eduardo;
Zárate Torres, María Guadalupe;
Hernández Torres, Mercedes

Publication type:

Article

Skin detoxification cycles.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2012, v. 78, n. 4, p. 414, doi. 10.4103/0378-6323.98070

By:

Vásquez-Moctezuma, Ismael;
Méndez-Bolaina, Enrique;
Sánchez-González, Dolores J.

Publication type:

Article

Hyperkeratotic pitted plaques on the palms and soles.

Published in:

2010

By:

Khandpur, Sujay;
Kathuria, Sushruta D.;
Gupta, Ruchika;
Singh, Manoj K.;
Sharma, Vinod K.

Publication type:

Case Study

Prosthodontic Rehabilitation of Patients with Papillon - Lefevre Syndrome: A Case Report.

Published in:

2011

By:

Vikhe, D. M.;
Lagdive, S. B.;
Gangadhar, S. A.;
Bhandari, A.

Publication type:

Case Study

سندروم پاپیلون لفور در یک کودک 4 ساله: گزارش یک مورد بیماری نادر و پیگیری سه ساله آن

Published in:

Journal of Zanjan University of Medical Sciences & Health Services, 2018, v. 26, n. 114, p. 124

By:

بابايي, مريم;
رمضانپور, افشار

Publication type:

Article

Naxos Disease in Two Siblings.

Published in:

International Journal of Trichology, 2010, v. 2, n. 1, p. 53, doi. 10.4103/0974-7753.66917

By:

Meera, G.;
Prabhavathy, D.;
Jayakumar, S.;
Tharini, G. K.

Publication type:

Article

Psoriasiform Skin Lesions and Dental Abnormalities.

Published in:

Oman Medical Journal, 2024, v. 39, n. 3, p. 7, doi. 10.5001/omj.2024.53

By:

Al Maqbali, Huda;
Otaify, Ghada;
Al-Mullahi, Ali;
Al Musalhi, Buthaina

Publication type:

Article

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121351

By:

Erzurumluoglu, A. Mesut;
Alsaadi, Muslim M.;
Rodriguez, Santiago;
Alotaibi, Tahani S.;
Guthrie, Philip A. I.;
Lewis, Sian;
Ginwalla, Aasiya;
Gaunt, Tom R.;
Alharbi, Khalid K.;
Alsaif, Fahad M.;
Alsaadi, Basma M.;
Day, Ian N. M.

Publication type:

Article

A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2010, v. 24, n. 8, p. 967, doi. 10.1111/j.1468-3083.2010.03575.x

By:

Kurban, M.;
Cheng, T.;
Wajid, M.;
Kiuru, M.;
Shimomura, Y.;
Christiano, A. M.

Publication type:

Article

Panoramic Radiographic Representation of Progressive Periodontal Destruction in a Family with Six Affected Papillon-Lefèvre Siblings.

Published in:

2009

By:

Ghaffar Abdel, Khaled A.;
Rose-Nelson, Camille;
Glascoe, Alison;
Brown, Ronald S.

Publication type:

Case Study

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.

Published in:: Current Medical Literature: Dermatology, 2011, v. 16, n. 1, p. 24
Publication type:: Article

Papillon-Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late-Onset Periodontitis.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 2, p. 292, doi. 10.1111/pde.12357

By:

Ragunatha, Shivanna;
Ramesh, Mudalagirigowda;
Anupama, Panagar;
Kapoor, Meenakshi;
Bhat, Meenakshi

Publication type:

Article

Papillon-Lefèvre syndrome: Report of a rare case.

Published in:

Journal of Isfahan Dental School, 2013, v. 9, n. 1, p. 107

By:

Ahmadinia, Amirreza;
Moghareabed, Ahmad;
Izadi, Mozhgan

Publication type:

Article

Papillon-Lefèvre Syndrome: Case Report and its Differential Diagnosis, Complications and Management.

Published in:

2011

By:

Bhargava, Manish;
Chaudhary, Deepak;
Gill, Sharanjeet;
Arora, Kapil;
Singh, Arundeep;
Karla, Hiten;
5

Publication type:

Case Study

Papillon-lefevre sendromlu üç olgu.

Published in:

Journal of Clinical & Experimental Investigations, 2011, v. 2, n. 2, p. 222, doi. 10.5799/ahinjs.01.2011.02.0244

By:

Uçmak, Derya;
Yeşilova, Yavuz;
Er, Mehmet Nurullah;
Dal, Tuba

Publication type:

Article

Papillon-Lefevre Syndrome In An Adolescent Female: A Case Study.

Published in:

2015

By:

JIJIN, M. J.;
JAISHANKAR, H. P.;
SATHYA NARAYARAN, VEENA;
RANGASWAMY, KRUPASHANKAR;
ANKANATHAPURA PUTHASWAMY, KAVITHA

Publication type:

Case Study

A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.

Published in:

Iranian Journal of Child Neurology, 2017, v. 11, n. 4, p. 77

By:

OWLIA, Fatemeh;
AKHAVAN KARBASSI, Mohammad-Hassan;
HAKIMIAN, Roqayeh;
ALEMRAJABI, Mohammad Sadegh

Publication type:

Article

Papillon-lefevre syndrome: Case series and review of literature.

Published in:

2013

By:

Bhavsar, Margi V.;
Brahmbhatt, Nilam A.;
Sahayata, Vishal N.;
Bhavsar, Neeta V.

Publication type:

Case Study

Papillon-Lefevre syndrome: A case report of 2 affected siblings.

Published in:

2013

By:

Sharma, Anupriya;
Kaur, Gurpreet;
Sharma, Ashish

Publication type:

Case Study

Papillon-Lefevre syndrome: A report of two cases.

Published in:

2010

By:

Rathod, Varsha J.;
Joshi, Nilesh V.

Publication type:

Case Study

Haim-Munk syndrome.

Published in:

2010

By:

Pahwa, Priyanka;
Lamba, Arundeep K.;
Faraz, Farrukh;
Tandon, Shruti

Publication type:

Case Study

Asitretin ile tedavi edilen bir Mal de Meleda Olgusu.

Published in:

2009

By:

Aktaş, Ekrem;
Kulluk, Pınar;
Utaş, Serap;
Kesim, Servet

Publication type:

Case Study

A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon- Lefèvre syndrome.

Published in:

Journal of Periodontal Research, 2016, v. 51, n. 3, p. 376, doi. 10.1111/jre.12317

By:

Wu, W.;
Chen, B.;
Chen, X.;
Chen, L.;
Yi, L.;
Wang, Y.;
Yan, F.;
Sun, W.

Publication type:

Article

CORRIGENDUM.

Published in:: 2016
Publication type:: Correction Notice

A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome.

Published in:

2015

By:

Soliman, Hala;
Gamal Eldeen, Heba;
Ibrahim Mustafa, Mustafa

Publication type:

Case Study

The Subgingival Microbiota of Papillon-Lefèvre Syndrome.

Published in:

Journal of Periodontology, 2012, v. 83, n. 7, p. 902, doi. 10.1902/jop.2011.110450

By:

Albandar, Jasim. M.;
Khattab, Razan;
Monem, Fawza;
Barbuto, Sara M.;
Paster, Bruce J.

Publication type:

Article

Papillon Lefevre syndrome.

Published in:

2017

By:

Chaubal, T.;
Bapat, R.;
P. Wadkar

Publication type:

Case Study

PLS and shape-based similarity analysis of maleimides - GSK-3 inhibitors.

Published in:

Journal of Enzyme Inhibition & Medicinal Chemistry, 2014, v. 29, n. 4, p. 599, doi. 10.3109/14756366.2013.833196

By:

Crisan, Luminita;
Pacureanu, Liliana;
Avram, Sorin;
Bora, Alina;
Avram, Speranta;
Kurunczi, Ludovic

Publication type:

Article

Diagnosis of Papillon-Lefèvre syndrome: review of the literature and a case report.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2020, v. 37, n. 5, p. 671, doi. 10.5114/ada.2020.100480

By:

Adamski, Zygmunt;
Burchardt, Dorota;
Pawlaczyk-Kamieńska, Tamara;
Borysewicz-Lewicka, Maria;
Wyganowska-Świątkowska, Marzena

Publication type:

Article

CTSC compound heterozygous mutations in two Chinese patients with Papillon–Lefèvre syndrome.

Published in:

Oral Diseases, 2019, v. 25, n. 5, p. 1394, doi. 10.1111/odi.13095

By:

Wu, Yuelin;
Zhao, Lei;
Xu, Chunmei;
Wu, Yafei

Publication type:

Article

Studying genetic resilience to improve human health.

Published in:

Oral Diseases, 2017, v. 23, n. 6, p. 685, doi. 10.1111/odi.12567

By:

Cirulli, ET;
Ginsburg, GS

Publication type:

Article

Palmoplantar keratoderma with dental abnormalities.

Published in:

2014

By:

Kaliyadan, Feroze;
Nambiar, Ajit

Publication type:

Case Study

Papillon-Lefevre syndrome with pseudoainhum.

Published in:

Indian Dermatology Online Journal, 2010, v. 1, n. 1, p. 33, doi. 10.4103/2229-5178.73257

By:

P., Ashwani;
K., Swapna;
M., Sailaja Rani;
Reddy, B. S. N.

Publication type:

Article

MANAGEMENT OF A YOUNG EDENTULOUS PATIENT HAVING PAPILLON LEFÉVRE SYNDROME - A CASE REPORT.

Published in:

Journal of Recent Advances in Applied Sciences, 2012, v. 27, n. 1/2, p. 19

By:

Nath, Dilip Kumar;
Bagchi, Gautam;
Nath, Madhuri

Publication type:

Article

Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma.

Published in:

2010

By:

Lestre, Sara;
Lozano, Eva;
Meireles, Cláudia;
Feio, Ana Barata

Publication type:

Case Study

A Novel Mutation of the Cathepsin C Gene in Papillon-Lefévre Syndrome.

Published in:

2002

By:

Cury, Vanessa F.;
Costa, José E.;
Gomez, Ricardo S.;
Boson, Wolfanga L.;
Loures, Cyro G.;
De Marco, Luiz;
Costa, José E

Publication type:

journal article

Elevated Hydroperoxide Levels and Antioxidant Pattern Papillon-Lefèvre Syndrome.

Published in:

2001

By:

Battino, Maurizio;
Ferreiro, Maria-Soledad;
Bompadre, Stefano;
Leone, Luciana;
Mosca, Fabrizio;
Bullon, Pedro

Publication type:

Case Study

Papillon-Lefèvre Syndrome: Serum Immunoglobulin G (IgG) Subclass Antibody Response to Periodontopathic Bacteria. A Case Report.

Published in:

2001

By:

Wara-aswapati, Nawarat;
Lertsirivorakul, Jinda;
Nagasawa, Toshiyuki;
Kawashima, Yoko;
Ishikawa, Isao

Publication type:

Case Study

Successful Periodontal Maintenance of a Case With Papillon-Lefèvre Syndrome: 12-Year Follow-Up and Review of the Literature.

Published in:

Journal of Periodontology, 2001, v. 72, n. 6, p. 824, doi. 10.1902/jop.2001.72.6.824

By:

Wiebe, Colin B.;
Häkkinen, Lari;
Putnins, Edward E.;
Walsh, Priscilla;
Larjava, Hannu S.

Publication type:

Article

Combined Mechanical and Antibiotic Periodontal Therapy in a Case of Papillon-Lefèvre Syndrome.

Published in:

Journal of Periodontology, 2001, v. 72, n. 4, p. 542, doi. 10.1902/jop.2001.72.4.542

By:

Eickholz, Peter;
Kugel, Birgit;
Pohl, Sabine;
Näher, Helmut;
Staehle, Hans J.

Publication type:

Article

Lack of cathelicidin processing in Papillon-Lefevre syndrome patients reveals essential role of LL-37 in periodontal homeostasis.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0148-y

By:

Eick, Sigrun;
Puklo, Magdalena;
Adamowicz, Karina;
Kantyka, Tomasz;
Hiemstra, Pieter;
Stennicke, Henning;
Guentsch, Arndt;
Schacher, Beate;
Eickholz, Peter;
Potempa, Jan

Publication type:

Article

Therapy modalities in Papillon-Lefèvre-Syndrome-associated periodontitis: A systematic review.

Published in:

International Poster Journal of Dentistry & Oral Medicine, 2017, n. 4, p. 3

By:

Tassabehji, N.;
Hoffmann, Th.;
Noack, B.

Publication type:

Article

CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 3, p. 217, doi. 10.1002/mgg3.61

By:

Nagy, Nikoletta;
Vályi, Péter;
Csoma, Zsanett;
Sulák, Adrienn;
Tripolszki, Kornélia;
Farkas, Katalin;
Paschali, Ekaterine;
Papp, Ferenc;
Tóth, Lola;
Fábos, Beáta;
Kemény, Lajos;
Nagy, Katalin;
Széll, Márta

Publication type:

Article

Papillion-Lefèvre Syndrome: Periodontists’ Perspective.

Published in:

Case Reports in Dentistry, 2015, v. 2015, p. 1, doi. 10.1155/2015/137381

By:

Biraggari, Sunil Kumar;
Reddy, K. Krishna Mohana;
Sudhakar, J.;
Bugude, Shiva Shankar;
Nichenametla, Rajesh;
Hakeem, Mazher Ahmed;
Tiyyagura, Swati Reddy

Publication type:

Article