113 related articles for article (PubMed ID: 30159811)
1. Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.
Henrickson SE; Walter JE; Quinn C; Kanakry JA; Bardakjian T; Dimitrova D; Ujhazi B; Csomos K; Bosticardo M; Dobbs K; Nasrallah M; Notarangelo LD; Holland SM; Fadugba O
J Clin Immunol; 2018 Aug; 38(6):642-645. PubMed ID: 30159811
[No Abstract] [Full Text] [Related]
2. Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
Geier CB; Piller A; Linder A; Sauerwein KM; Eibl MM; Wolf HM
PLoS One; 2015; 10(7):e0133220. PubMed ID: 26186701
[TBL] [Abstract][Full Text] [Related]
3. Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.
Dutmer CM; Asturias EJ; Smith C; Dishop MK; Schmid DS; Bellini WJ; Tirosh I; Lee YN; Notarangelo LD; Gelfand EW
J Clin Immunol; 2015 Nov; 35(8):754-60. PubMed ID: 26515615
[TBL] [Abstract][Full Text] [Related]
4. Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD; Kim MS; Walter JE; Lee YN
Nat Rev Immunol; 2016 Apr; 16(4):234-46. PubMed ID: 26996199
[TBL] [Abstract][Full Text] [Related]
5. Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E; Wada T; Sakakibara Y; Toga A; Toma T; Shimizu T; Nampoothiri S; Imai K; Nonoyama S; Morio T; Muramatsu H; Kamachi Y; Ohara O; Yachie A
Clin Immunol; 2011 Feb; 138(2):172-7. PubMed ID: 21131235
[TBL] [Abstract][Full Text] [Related]
6. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.
Al-Herz W; Massaad MJ; Chou J; Notarangelo LD; Geha RS
Clin Immunol; 2018 Feb; 187():68-75. PubMed ID: 29051008
[TBL] [Abstract][Full Text] [Related]
7. Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.
Rohr J; Pannicke U; Döring M; Schmitt-Graeff A; Wiech E; Busch A; Speckmann C; Müller I; Lang P; Handgretinger R; Fisch P; Schwarz K; Ehl S
J Clin Immunol; 2010 Mar; 30(2):314-20. PubMed ID: 19967552
[TBL] [Abstract][Full Text] [Related]
8. Consequences of mutations within the C terminus of the FHL1 gene.
Schoser B; Goebel HH; Janisch I; Quasthoff S; Rother J; Bergmann M; Müller-Felber W; Windpassinger C
Neurology; 2009 Aug; 73(7):543-51. PubMed ID: 19687455
[TBL] [Abstract][Full Text] [Related]
9. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Ruggieri A; Brancati F; Zanotti S; Maggi L; Pasanisi MB; Saredi S; Terracciano C; Antozzi C; D Apice MR; Sangiuolo F; Novelli G; Marshall CR; Scherer SW; Morandi L; Federici L; Massa R; Mora M; Minassian BA
Acta Neuropathol Commun; 2015 Jul; 3():44. PubMed ID: 26205529
[TBL] [Abstract][Full Text] [Related]
10. Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
Tabori U; Mark Z; Amariglio N; Etzioni A; Golan H; Biloray B; Toren A; Rechavi G; Dalal I
Clin Genet; 2004 Apr; 65(4):322-6. PubMed ID: 15025726
[TBL] [Abstract][Full Text] [Related]
11. Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.
Okuno Y; Hoshino A; Muramatsu H; Kawashima N; Wang X; Yoshida K; Wada T; Gunji M; Toma T; Kato T; Shiraishi Y; Iwata A; Hori T; Kitoh T; Chiba K; Tanaka H; Sanada M; Takahashi Y; Nonoyama S; Ito M; Miyano S; Ogawa S; Kojima S; Kanegane H
J Clin Immunol; 2015 Oct; 35(7):610-4. PubMed ID: 26407811
[TBL] [Abstract][Full Text] [Related]
12. Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.
Khan TA; Iqbal A; Rahman H; Cabral-Marques O; Ishfaq M; Muhammad N
Microb Pathog; 2017 Aug; 109():114-119. PubMed ID: 28552805
[TBL] [Abstract][Full Text] [Related]
13. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.
Olsen RK; Pourfarzam M; Morris AA; Dias RC; Knudsen I; Andresen BS; Gregersen N; Olpin SE
J Inherit Metab Dis; 2004; 27(5):671-8. PubMed ID: 15669683
[TBL] [Abstract][Full Text] [Related]
14. IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
Moriya K; Sasahara Y; Ohnishi H; Kawai T; Kanegane H
J Clin Immunol; 2018 Jul; 38(5):543-545. PubMed ID: 29948576
[No Abstract] [Full Text] [Related]
15. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
Kirschner J; Brune T; Wehnert M; Denecke J; Wasner C; Feuer A; Marquardt T; Ketelsen UP; Wieacker P; Bönnemann CG; Korinthenberg R
Ann Neurol; 2005 Jan; 57(1):148-51. PubMed ID: 15622532
[TBL] [Abstract][Full Text] [Related]
16. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I
J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
[TBL] [Abstract][Full Text] [Related]
17. The PAX5 gene: a linkage and mutation analysis in candidate human primary immunodeficiencies.
Vorechovský I; Koskinen S; Paganelli R; Smith CI; Busslinger M; Hammarström L
Immunogenetics; 1995; 42(2):149-52. PubMed ID: 7607706
[No Abstract] [Full Text] [Related]
18. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D; Gueneau L; Batonnet-Pichon S; Delort F; Bécane HM; Claeys K; Beuvin M; Goudeau B; Jais JP; Nelson I; Richard P; Ben Yaou R; Romero NB; Wahbi K; Mathis S; Voit T; Furst D; van der Ven P; Gil R; Vicart P; Fardeau M; Bonne G; Behin A
Rev Neurol (Paris); 2016 Oct; 172(10):594-606. PubMed ID: 27633507
[TBL] [Abstract][Full Text] [Related]
19. [Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X; Liu A; Yang H; Wei C; Ding J; Wang S; Wang J; Yuan Y; Jiang Y; Xiong H
Zhonghua Er Ke Za Zhi; 2015 Oct; 53(10):741-6. PubMed ID: 26758109
[TBL] [Abstract][Full Text] [Related]
20. An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C; Huck K; Gudowius S; Megahed M; Feyen O; Hubner B; Schneider DT; Manfras B; Pannicke U; Willemze R; Knüchel R; Göbel U; Schulz A; Borkhardt A; Friedrich W; Schwarz K; Niehues T
N Engl J Med; 2008 May; 358(19):2030-8. PubMed ID: 18463379
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]