209 related articles for article (PubMed ID: 34804071)
1. Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
Ripen AM; Chiow MY; Rama Rao PR; Mohamad SB
Front Immunol; 2021; 12():778133. PubMed ID: 34804071
[TBL] [Abstract][Full Text] [Related]
2.
Kuhns DB; Hsu AP; Sun D; Lau K; Fink D; Griffith P; Huang DW; Priel DAL; Mendez L; Kreuzburg S; Zerbe CS; De Ravin SS; Malech HL; Holland SM; Wu X; Gallin JI
Blood Adv; 2019 Jan; 3(2):136-147. PubMed ID: 30651282
[TBL] [Abstract][Full Text] [Related]
3. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
Stasia MJ; Mollin M; Martel C; Satre V; Coutton C; Amblard F; Vieville G; van Montfrans JM; Boelens JJ; Veenstra-Knol HE; van Leeuwen K; de Boer M; Brion JP; Roos D
Eur J Hum Genet; 2013 Oct; 21(10):1079-84. PubMed ID: 23340515
[TBL] [Abstract][Full Text] [Related]
4. Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.
Kulkarni M; Hule G; de Boer M; van Leeuwen K; Kambli P; Aluri J; Gupta M; Dalvi A; Mhatre S; Taur P; Desai M; Madkaikar M
J Clin Immunol; 2018 Nov; 38(8):898-916. PubMed ID: 30470980
[TBL] [Abstract][Full Text] [Related]
5. [A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease].
Kabuki T; Kawai T; Kin Y; Joh K; Ohashi H; Kosho T; Yachie A; Kanegane H; Miyawaki T; Oh-ishi T
Nihon Rinsho Meneki Gakkai Kaishi; 2003 Oct; 26(5):299-303. PubMed ID: 14635404
[TBL] [Abstract][Full Text] [Related]
6. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
Masson J; Demily C; Chatron N; Labalme A; Rollat-Farnier PA; Schluth-Bolard C; Gilbert-Dussardier B; Giuliano F; Touraine R; Tordjman S; Verloes A; Testa G; Sanlaville D; Edery P; Lesca G; Rossi M
Orphanet J Rare Dis; 2019 May; 14(1):121. PubMed ID: 31151468
[TBL] [Abstract][Full Text] [Related]
7. Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.
Dekker J; de Boer M; Roos D
Exp Hematol; 2001 Nov; 29(11):1319-25. PubMed ID: 11698128
[TBL] [Abstract][Full Text] [Related]
8. Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report.
Khanmohammadi S; Rezaei N; Kompani F; Delkhah M
J Clin Immunol; 2024 May; 44(5):125. PubMed ID: 38760640
[TBL] [Abstract][Full Text] [Related]
9. Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
Tajik S; Badalzadeh M; Fazlollahi MR; Houshmand M; Bazargan N; Movahedi M; Mahlouji Rad M; Mahdaviani SA; Mamishi S; Khotaei GT; Mansouri D; Zandieh F; Pourpak Z
Scand J Immunol; 2019 Jul; 90(1):e12767. PubMed ID: 30963593
[TBL] [Abstract][Full Text] [Related]
10. Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
Wolach B; Gavrieli R; de Boer M; van Leeuwen K; Wolach O; Grisaru-Soen G; Broides A; Etzioni A; Somech R; Roos D
J Clin Immunol; 2018 Feb; 38(2):193-203. PubMed ID: 29411231
[TBL] [Abstract][Full Text] [Related]
11. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
Del Campo M; Antonell A; Magano LF; Muñoz FJ; Flores R; Bayés M; Pérez Jurado LA
Am J Hum Genet; 2006 Apr; 78(4):533-42. PubMed ID: 16532385
[TBL] [Abstract][Full Text] [Related]
12. Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
Roos D; de Boer M; Köker MY; Dekker J; Singh-Gupta V; Ahlin A; Palmblad J; Sanal O; Kurenko-Deptuch M; Jolles S; Wolach B
Hum Mutat; 2006 Dec; 27(12):1218-29. PubMed ID: 16972229
[TBL] [Abstract][Full Text] [Related]
13. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG
Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504
[TBL] [Abstract][Full Text] [Related]
14. Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.
Hayrapetyan A; Dencher PC; van Leeuwen K; de Boer M; Roos D
Biochim Biophys Acta; 2013 Oct; 1832(10):1662-72. PubMed ID: 23688784
[TBL] [Abstract][Full Text] [Related]
15. Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.
Klatt D; Cheng E; Philipp F; Selich A; Dahlke J; Schmidt RE; Schott JW; Büning H; Hoffmann D; Thrasher AJ; Schambach A
Stem Cell Reports; 2019 Oct; 13(4):590-598. PubMed ID: 31543470
[TBL] [Abstract][Full Text] [Related]
16. Chronic granulomatous disease presenting with small bone osteomyelitis in a young child: A case report.
Chari PS; Chandra P; Prasad S; Bhattad S
Indian J Pathol Microbiol; 2018; 61(4):557-560. PubMed ID: 30303148
[TBL] [Abstract][Full Text] [Related]
17. Novel Diagnostic Tool for p47
Wrona D; Siler U; Reichenbach J
Mol Ther Methods Clin Dev; 2019 Jun; 13():274-278. PubMed ID: 30859112
[TBL] [Abstract][Full Text] [Related]
18. Clinical, Immunological, and Molecular Findings of Patients with p47
Kulkarni M; Desai M; Gupta M; Dalvi A; Taur P; Terrance A; Bhat S; Manglani M; Raj R; Shah I; Madkaikar M
J Clin Immunol; 2016 Nov; 36(8):774-784. PubMed ID: 27699571
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.
Al-Zadjali S; Al-Tamemi S; Elnour I; AlKindi S; Lapoumeroulie C; Al-Maamari S; Pathare A; Dennison D; Krishnamoorthy R
Clin Genet; 2015 Feb; 87(2):185-9. PubMed ID: 24446915
[TBL] [Abstract][Full Text] [Related]
20. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M; Costa-Roger M; Pérez-García D; Flores R; Palacios-Verdú MG; Cusco I; Pérez-Jurado LA
J Med Genet; 2019 Dec; 56(12):801-808. PubMed ID: 31413120
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
