Literature DB >> 29480631

The importance of studying oral and craniofacial manifestations of Mendelian phenotypes.

J C Atkinson1.   

Abstract

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Mesh：

Year:  2018        PMID： 29480631      PMCID： PMC5831551          DOI： 10.1111/odi.12750

Source DB:  PubMed          Journal:  Oral Dis        ISSN： 1354-523X            Impact factor:   3.511


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  11 in total

Review 1.  Inborn errors in immunity: unique natural models to dissect oral immunity.

Authors:  N M Moutsopoulos; M S Lionakis; G Hajishengallis
Journal:  J Dent Res       Date:  2015-04-21       Impact factor: 6.116

Review 2.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Authors:  Jessica X Chong; Kati J Buckingham; Shalini N Jhangiani; Corinne Boehm; Nara Sobreira; Joshua D Smith; Tanya M Harrell; Margaret J McMillin; Wojciech Wiszniewski; Tomasz Gambin; Zeynep H Coban Akdemir; Kimberly Doheny; Alan F Scott; Dimitri Avramopoulos; Aravinda Chakravarti; Julie Hoover-Fong; Debra Mathews; P Dane Witmer; Hua Ling; Kurt Hetrick; Lee Watkins; Karynne E Patterson; Frederic Reinier; Elizabeth Blue; Donna Muzny; Martin Kircher; Kaya Bilguvar; Francesc López-Giráldez; V Reid Sutton; Holly K Tabor; Suzanne M Leal; Murat Gunel; Shrikant Mane; Richard A Gibbs; Eric Boerwinkle; Ada Hamosh; Jay Shendure; James R Lupski; Richard P Lifton; David Valle; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

3.  Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

Authors:  Niki M Moutsopoulos; Christa S Zerbe; Teresa Wild; Nicolas Dutzan; Laurie Brenchley; Giovanni DiPasquale; Gulbu Uzel; Karen C Axelrod; Andrea Lisco; Lucia D Notarangelo; George Hajishengallis; Luigi D Notarangelo; Steven M Holland
Journal:  N Engl J Med       Date:  2017-03-23       Impact factor: 91.245

4.  Characterization of neutrophil function in Papillon-Lefèvre syndrome.

Authors:  Helen Roberts; Phillipa White; Irundika Dias; Sarah McKaig; Ratna Veeramachaneni; Nalin Thakker; Melissa Grant; Iain Chapple
Journal:  J Leukoc Biol       Date:  2016-03-08       Impact factor: 4.962

5.  Orofacial manifestations in primary immunodeficiencies: T lymphocyte defects.

Authors:  S R Porter; C Scully
Journal:  J Oral Pathol Med       Date:  1993-08       Impact factor: 4.253

6.  Orofacial manifestations in primary immunodeficiencies: polymorphonuclear leukocyte defects.

Authors:  S R Porter; C Scully
Journal:  J Oral Pathol Med       Date:  1993-08       Impact factor: 4.253

7.  Orofacial manifestations in primary immunodeficiencies: common variable immunodeficiencies.

Authors:  S R Porter; C Scully
Journal:  J Oral Pathol Med       Date:  1993-04       Impact factor: 4.253

Review 8.  Orofacial manifestations in the primary immunodeficiency disorders.

Authors:  S R Porter; C Scully
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1994-07

9.  Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropenia.

Authors:  Ying Ye; Göran Carlsson; Biniyam Wondimu; Annika Fahlén; Jenny Karlsson-Sjöberg; Mats Andersson; Lars Engstrand; Tülay Yucel-Lindberg; Thomas Modéer; Katrin Pütsep
Journal:  J Clin Immunol       Date:  2011-07-29       Impact factor: 8.317

10.  Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

Authors:  Kristofer Andersson; Göran Dahllöf; Katarina Lindahl; Andreas Kindmark; Giedre Grigelioniene; Eva Åström; Barbro Malmgren
Journal:  PLoS One       Date:  2017-05-12       Impact factor: 3.240
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