Literature DB >> 33314034

Late diagnosis and advances in genetics of chronic granulomatous disease.

G Di Matteo1,2, A Finocchi1,2.   

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Year:  2020        PMID： 33314034      PMCID： PMC7806444          DOI： 10.1111/cei.13554

Source DB:  PubMed          Journal:  Clin Exp Immunol        ISSN： 0009-9104            Impact factor:   4.330


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  15 in total

1.  Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.

Authors:  Ivan K Chinn; Alice Y Chan; Karin Chen; Janet Chou; Morna J Dorsey; Joud Hajjar; Artemio M Jongco; Michael D Keller; Lisa J Kobrynski; Attila Kumanovics; Monica G Lawrence; Jennifer W Leiding; Patricia L Lugar; Jordan S Orange; Kiran Patel; Craig D Platt; Jennifer M Puck; Nikita Raje; Neil Romberg; Maria A Slack; Kathleen E Sullivan; Teresa K Tarrant; Troy R Torgerson; Jolan E Walter
Journal:  J Allergy Clin Immunol       Date:  2019-09-27       Impact factor: 10.793

Review 2.  Rules and tools to predict the splicing effects of exonic and intronic mutations.

Authors:  Kinji Ohno; Jun-Ichi Takeda; Akio Masuda
Journal:  Wiley Interdiscip Rev RNA       Date:  2017-09-26       Impact factor: 9.957

3.  Late diagnosis of chronic granulomatous disease.

Authors:  T Barkai; R Somech; A Broides; R Gavrieli; B Wolach; N Marcus; D Hagin; T Stauber
Journal:  Clin Exp Immunol       Date:  2020-07-13       Impact factor: 4.330

4.  Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France.

Authors:  Bertrand Dunogué; Benoit Pilmis; Nizar Mahlaoui; Caroline Elie; Hélène Coignard-Biehler; Karima Amazzough; Nicolas Noël; Hélène Salvator; Emilie Catherinot; Louis-Jean Couderc; Harry Sokol; Fanny Lanternier; Fanny Fouyssac; Julie Bardet; Jacinta Bustamante; Marie-Anne Gougerot-Pocidalo; Vincent Barlogis; Agathe Masseau; Isabelle Durieu; Marc Lecuit; Felipe Suarez; Alain Fischer; Stéphane Blanche; Olivier Hermine; Olivier Lortholary
Journal:  Clin Infect Dis       Date:  2017-03-15       Impact factor: 9.079

5.  An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.

Authors:  D Noack; P G Heyworth; P E Newburger; A R Cross
Journal:  Biochim Biophys Acta       Date:  2001-09-28

6.  Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.

Authors:  Robert Chiesa; Junfeng Wang; Henric-Jan Blok; Sheree Hazelaar; Benedicte Neven; Despina Moshous; Ansgar Schulz; Manfred Hoenig; Fabian Hauck; Amal Al Seraihy; Jolanta Gozdzik; Per Ljungman; Caroline A Lindemans; Juliana F Fernandes; Krzysztof Kalwak; Brigitte Strahm; Urs Schanz; Petr Sedlacek; Karl-Walter Sykora; Serap Aksoylar; Franco Locatelli; Polina Stepensky; Robert Wynn; Su Han Lum; Marco Zecca; Fulvio Porta; Mervi Taskinen; Brenda Gibson; Susanne Matthes; Musa Karakukcu; Mathias Hauri-Hohl; Paul Veys; Andrew R Gennery; Giovanna Lucchini; Matthias Felber; Michael H Albert; Dmitry Balashov; Arjan Lankester; Tayfun Güngör; Mary A Slatter
Journal:  Blood       Date:  2020-09-03       Impact factor: 22.113

7.  A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophils.

Authors:  Federica Defendi; Eva Decleva; Cécile Martel; Pietro Dri; Marie José Stasia
Journal:  Biochim Biophys Acta       Date:  2009-03

8.  Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet).

Authors:  Federica Pulvirenti; Maria Sangerardi; Alessandro Plebani; Annarosa Soresina; Andrea Finocchi; Claudio Pignata; Emilia Cirillo; Antonino Trizzino; Alessandro Aiuti; Maddalena Migliavacca; Franco Locatelli; Alice Bertaina; Samuele Naviglio; Maria Carrabba; Marco De Carli; Maria Grazia Foschino Barbaro; Marco Gattorno; Isabella Quinti; Baldassarre Martire
Journal:  J Clin Immunol       Date:  2019-12-20       Impact factor: 8.317

Review 9.  Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Authors:  Natasha Caminsky; Eliseos J Mucaki; Peter K Rogan
Journal:  F1000Res       Date:  2014-11-18

10.  Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Authors:  M Mollin; S Beaumel; B Vigne; J Brault; N Roux-Buisson; J Rendu; V Barlogis; G Catho; C Dumeril; F Fouyssac; D Monnier; V Gandemer; M Revest; J-P Brion; C Bost-Bru; E Jeziorski; L Eitenschenck; C Jarrasse; S Drillon Haus; M Houachée-Chardin; M Hancart; G Michel; Y Bertrand; D Plantaz; J Kelecic; R Traberg; L Kainulainen; J Fauré; F Fieschi; M J Stasia
Journal:  Clin Exp Immunol       Date:  2020-10-12       Impact factor: 4.330
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