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SpringerLink电子期刊(12)

在“SpringerLink电子期刊”中，命中：12条，耗时：小于0.01 秒

在所有数据库中总计命中：12条

1. Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome

作者： Tao Qin ; Yunfei An ; Chaohong Liu ; Junfeng Wu ; Rongxin Dai…

关键词：Hyper ; IgE syndrome ; DOCK8 ; Mutation ; Flow cytometry ; Targeted deep sequencing ; Immune function

刊名：Immunologic Research

出版年：2016

2. Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy

作者： Aaron G. Day-Williams ; Chao Sun ; Ilijas Jelcic…

关键词：Hyper IgE Syndrome ; DOCK8 deficiency ; primary immune deficiency ; Progressive Multifocal Leukoencephalopathy (PML) ; JC virus

刊名：Journal of Clinical Immunology

出版年：2015

3. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

作者： Susanne E. Aydin ; Sara Sebnem Kilic ; Caner Aytekin…

关键词：DOCK8 deficiency ; combined immunodeficiency ; hyper ; IgE syndrome ; natural outcome

刊名：Journal of Clinical Immunology

出版年：2015

4. Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients

作者：Zobaida Alsum (1)
Abbas Hawwari (4) (8)
Osama Alsmadi (5)
Safa Al-Hissi (4)
Esteban Borrero (4)
Asma-Abu-staiteh (4)
Hanif G. Khalak (4)
Salma Wakil (4)
Abdelmoneim M. Eldali (6)
Rand Arnaout (1)
Abdulaziz Al-ghonaium (1)
Saleh Al-Muhsen (1) (3)
Hasan Al-Dhekri (1)
Bandar Al-Saud (1)
Hamoud Al-Mousa (1) (2) (4) (7)

关键词：DOCK8 ; hyper ; IgE syndrome ; immunodeficiency ; Saudi

刊名：Journal of Clinical Immunology

出版年：2013

5. A novel Dock8 gene mutation confers diabetogenic susceptibility in the LEW.1AR1/Ztm-iddm rat, an animal model of human type 1 diabetes

作者： Tanja Arndt ; Dirk Wedekind ; Anne J?rns ; Georgios Tsiavaliaris ; Edwin Cuppen…

关键词：Animal model ; Mutation ; T cells ; Type 1 diabetes

刊名：Diabetologia

出版年：2015

6. Combined immunodeficiency associated DOCK8 mutations

作者： Marcela Rezende…

刊名：World Allergy Organization Journal

出版年：2015

7. DOCK8 deficiency and guillain-barre syndrome

作者： Ana Carolina Nápolis ; Gesmar Rodrigues Silva Segundo…

刊名：World Allergy Organization Journal

出版年：2015

8. Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

作者：Ozden Sanal (1) sanaloz@tr.net
Huie Jing (2)
Tuba Ozgur (1)
Deniz Ayvaz (1)
Dara M. Strauss-Albee (2)
Sibel Ersoy-Evans (3)
Ilhan Tezcan (1)
Gulten Turkkani (1)
Helen F. Matthews (4)
Goknur Haliloglu (5)
Aysel Yuce (6)
Bilgehan Yalcin (7)
Ozay Gokoz (8)
Kader K. Oguz (9)
Helen C. Su (2) hsu@niaid.nih.gov

关键词：DOCK8 – ; combined immunodeficiency – ; epidermodysplasia verruciformis – ; sclerosing cholangitis – ; CNS lymphoma – ; leiomyosarcoma

刊名：Journal of Clinical Immunology

出版年：2012

9. Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

作者： Eleonora Di Gregorio ; Elisa Savin ; Elisa Biamino…

关键词：GTG ; banding ; Array ; CGH ; Unbalanced derivative chromosomes ; CNV ; Genomic rearrangement ; Intellectual disability

刊名：Molecular Cytogenetics

出版年：2014

10. Genetic Susceptibility to Fungal Infections in Humans

作者：Michail S. Lionakis (1)

关键词：Fungal infection ; Genetics ; Susceptibility ; Immune dysfunction ; Primary immunodeficiency ; Chronic mucocutaneous candidiasis ; Chronic granulomatous disease ; Hyper ; IgE syndrome ; MonoMAC ; Leukocyte adhesion deficiency ; Severe combined immunodeficiency ; Hyper ; IgM syndrome ; APECED ; STAT1 ; STAT3 ; CARD9 ; DOCK8 ; Dectin1 ; Toll ; like receptors ; IL ; 17 ; IL ; 12/IFN ; γ axis

刊名：Current Fungal Infection Reports

出版年：2012

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