Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

213 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhöft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blütters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL. Fieschi C, et al. Among authors: novelli v. J Exp Med. 2003 Feb 17;197(4):527-35. doi: 10.1084/jem.20021769. J Exp Med. 2003. PMID: 12591909 Free PMC article.
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: novelli v. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondanèche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL. Jouanguy E, et al. Among authors: novelli v. Nat Genet. 1999 Apr;21(4):370-8. doi: 10.1038/7701. Nat Genet. 1999. PMID: 10192386
Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway.
Lammas DA, De Heer E, Edgar JD, Novelli V, Ben-Smith A, Baretto R, Drysdale P, Binch J, MacLennan C, Kumararatne DS, Panchalingam S, Ottenhoff TH, Casanova JL, Emile JF. Lammas DA, et al. Among authors: novelli v. Int J Exp Pathol. 2002 Feb;83(1):1-20. doi: 10.1046/j.1365-2613.2002.00216.x. Int J Exp Pathol. 2002. PMID: 12059906 Free PMC article. Review.
Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
Edgar JD, Smyth AE, Pritchard J, Lammas D, Jouanguy E, Hague R, Novelli V, Dempsey S, Sweeney L, Taggart AJ, O'hara D, Casanova JL, Kumararatne DS. Edgar JD, et al. Among authors: novelli v. J Pediatr. 2001 Oct;139(4):600-3. doi: 10.1067/mpd.2001.117068. J Pediatr. 2001. PMID: 11598613
Lopinavir dosing in HIV-infected children in the United Kingdom and Ireland.
Donegan K, Doerholt K, Judd A, Lyall H, Menson E, Butler K, Tookey P, Riordan A, Shingadia D, Tudor-Williams G, Gibb DM, Walker AS; Collaborative HIV Paediatric Study (CHIPS). Donegan K, et al. Pediatr Infect Dis J. 2013 Jan;32(1):45-50. doi: 10.1097/INF.0b013e31827842c9. Pediatr Infect Dis J. 2013. PMID: 23076384
HIV-1 drug resistance in HIV-1-infected children in the United Kingdom from 1998 to 2004.
Chakraborty R, Smith CJ, Dunn D, Green H, Duong T, Doerholt K, Riordon A, Lyall H, Tookey P, Butler K, Sabin CA, Gibb D, Pillay D; Collaborative HIV Paediatric Study; UK Collaborative Group on HIV Drug Resistance. Chakraborty R, et al. Pediatr Infect Dis J. 2008 May;27(5):457-9. doi: 10.1097/INF.0b013e3181646d6f. Pediatr Infect Dis J. 2008. PMID: 18382385
213 results