-
1
-
-
57349187991
-
Pulmonary nontuberculous mycobacterial disease: Prospective study of a distinct preexisting syndrome
-
Kim RD, Greenberg DE, Ehrmantraut ME, Guide SV, Ding L, Shea Y, Brown MR, Chernick M, Steagall WK, Glasgow CG, et al. Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Am J Respir Crit Care Med 2008;178: 1066-1074.
-
(2008)
Am J Respir Crit Care Med
, vol.178
, pp. 1066-1074
-
-
Kim, R.D.1
Greenberg, D.E.2
Ehrmantraut, M.E.3
Guide, S.V.4
Ding, L.5
Shea, Y.6
Brown, M.R.7
Chernick, M.8
Steagall, W.K.9
Glasgow, C.G.10
-
2
-
-
84879578236
-
Abnormal nasal nitric oxide production, ciliary beat frequency, and Toll-like receptor response in pulmonary nontuberculous mycobacterial disease epithelium
-
Fowler CJ, Olivier KN, Leung JM, Smith CC, Huth AG, Root H, Kuhns DB, Logun C, Zelazny A, Frein CA, et al. Abnormal nasal nitric oxide production, ciliary beat frequency, and Toll-like receptor response in pulmonary nontuberculous mycobacterial disease epithelium. Am J Respir Crit Care Med 2013;187:1374-1381.
-
(2013)
Am J Respir Crit Care Med
, vol.187
, pp. 1374-1381
-
-
Fowler, C.J.1
Olivier, K.N.2
Leung, J.M.3
Smith, C.C.4
Huth, A.G.5
Root, H.6
Kuhns, D.B.7
Logun, C.8
Zelazny, A.9
Frein, C.A.10
-
3
-
-
84890030442
-
A familial syndrome of pulmonary nontuberculous mycobacteria infections
-
Leung JM, Fowler C, Smith C, Adjemian J, Frein C, Claypool RJ, Holland SM, Prevots RD, Olivier K. A familial syndrome of pulmonary nontuberculous mycobacteria infections. Am J Respir Crit Care Med 2013;188:1373-1376.
-
(2013)
Am J Respir Crit Care Med
, vol.188
, pp. 1373-1376
-
-
Leung, J.M.1
Fowler, C.2
Smith, C.3
Adjemian, J.4
Frein, C.5
Claypool, R.J.6
Holland, S.M.7
Prevots, R.D.8
Olivier, K.9
-
4
-
-
84942240524
-
STAT1 gain of function mutations are infrequent in pulmonary nontuberculous mycobacterial infection [abstract]
-
Szymanski EP, Leung JM, Fowler CJ, Liu X, Devine SE, Fraser CM, Tettelin H, Browne SK, Olivier KN, Holland SM. STAT1 gain of function mutations are infrequent in pulmonary nontuberculous mycobacterial infection [abstract]. J Clin Immunol 2014;35:362.
-
(2014)
J Clin Immunol
, vol.35
, pp. 362
-
-
Szymanski, E.P.1
Leung, J.M.2
Fowler, C.J.3
Liu, X.4
Devine, S.E.5
Fraser, C.M.6
Tettelin, H.7
Browne, S.K.8
Olivier, K.N.9
Holland, S.M.10
-
5
-
-
84942257248
-
Pulmonary nontuberculous mycobacterial infection: A multisystem multigenic disease [abstract]
-
Szymanski EP, Leung JM, Fowler CJ, Liu X, Devine SE, Fraser CM, Tettelin H, Hsu AP, Browne SK, Olivier KN, et al. Pulmonary nontuberculous mycobacterial infection: a multisystem multigenic disease [abstract]. J Clin Immunol 2015;35:309.
-
(2015)
J Clin Immunol
, vol.35
, pp. 309
-
-
Szymanski, E.P.1
Leung, J.M.2
Fowler, C.J.3
Liu, X.4
Devine, S.E.5
Fraser, C.M.6
Tettelin, H.7
Hsu, A.P.8
Browne, S.K.9
Olivier, K.N.10
-
6
-
-
33847050904
-
An official ATS/IDSA statement: Diagnosis treatment and prevention of nontuberculous mycobacterial diseases
-
[Published erratum appears in Am J Respir Crit Care Med 2007;175:744-745.]
-
Griffith DE, Aksamit T, Brown-Elliott BA, Catanzaro A, Daley C, Gordin F, Holland SM, Horsburgh R, Huitt G, Iademarco MF, et al.; ATS Mycobacterial Diseases Subcommittee. An official ATS/IDSA statement: diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. Am J Respir Crit Care Med 2007;175: 367-416. [Published erratum appears in Am J Respir Crit Care Med 2007;175:744-745.]
-
(2007)
Am J Respir Crit Care Med
, vol.175
, pp. 367-416
-
-
ATS Mycobacterial Diseases Subcommittee1
Griffith, D.E.2
Aksamit, T.3
Brown-Elliott, B.A.4
Catanzaro, A.5
Daley, C.6
Gordin, F.7
Holland, S.M.8
Horsburgh, R.9
Huitt, G.10
Iademarco, M.F.11
-
7
-
-
0036086275
-
Management of Marfan syndrome
-
Dean JC. Management of Marfan syndrome. Heart 2002;88:97-103.
-
(2002)
Heart
, vol.88
, pp. 97-103
-
-
Dean, J.C.1
-
8
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
9
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011;43:491-498.
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
Del Angel, G.8
Rivas, M.A.9
Hanna, M.10
-
10
-
-
84862506964
-
A program for annotating and predicting the effects of single nucleotide polymorphisms SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; Iso-2; iso-3
-
Cingolani P, Platts A,Wang LL, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 2012;6:80-92.
-
(2012)
Fly (Austin)
, vol.6
, pp. 80-92
-
-
Cingolani, P.1
Platts, A.2
Wang, L.L.3
Coon, M.4
Nguyen, T.5
Wang, L.6
Land, S.J.7
Lu, X.8
Ruden, D.M.9
-
11
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014;46:310-315.
-
(2014)
Nat Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
Witten, D.M.2
Jain, P.3
O'Roak, B.J.4
Cooper, G.M.5
Shendure, J.6
-
12
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
13
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006;38: 904-909.
-
(2006)
Nat Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
-
14
-
-
84857187982
-
VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
-
Teer JK, Green ED, Mullikin JC, Biesecker LG. VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics 2012;28:599-600.
-
(2012)
Bioinformatics
, vol.28
, pp. 599-600
-
-
Teer, J.K.1
Green, E.D.2
Mullikin, J.C.3
Biesecker, L.G.4
-
15
-
-
84855199947
-
-
RC Team. Vienna Austria: R Foundation for Statistical Computing
-
RC Team. A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2013.
-
(2013)
A Language and Environment for Statistical Computing
-
-
-
16
-
-
57149144518
-
The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases
-
quiz 1052-1053
-
Al-Muhsen S, Casanova JL. The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol 2008;122:1043-1051, quiz 1052-1053.
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 1043-1051
-
-
Al-Muhsen, S.1
Casanova, J.L.2
-
17
-
-
84878556463
-
Dominant gainof-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
-
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, et al. Dominant gainof-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol 2013;131:1611-1623.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 1611-1623
-
-
Uzel, G.1
Sampaio, E.P.2
Lawrence, M.G.3
Hsu, A.P.4
Hackett, M.5
Dorsey, M.J.6
Noel, R.J.7
Verbsky, J.W.8
Freeman, A.F.9
Janssen, E.10
-
18
-
-
79960219807
-
IRF8 mutations and human dendritic-cell immunodeficiency
-
Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med 2011;365:127-138.
-
(2011)
N Engl J Med
, vol.365
, pp. 127-138
-
-
Hambleton, S.1
Salem, S.2
Bustamante, J.3
Bigley, V.4
Boisson-Dupuis, S.5
Azevedo, J.6
Fortin, A.7
Haniffa, M.8
Ceron-Gutierrez, L.9
Bacon, C.M.10
-
19
-
-
84878400790
-
Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency
-
Drewniak A, Gazendam RP, Tool AT, van Houdt M, Jansen MH, van Hamme JL, van Leeuwen EM, Roos D, Scalais E, de Beaufort C, et al. Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood 2013;121:2385-2392.
-
(2013)
Blood
, vol.121
, pp. 2385-2392
-
-
Drewniak, A.1
Gazendam, R.P.2
Tool, A.T.3
Van Houdt, M.4
Jansen, M.H.5
Van Hamme, J.L.6
Van Leeuwen, E.M.7
Roos, D.8
Scalais, E.9
De Beaufort, C.10
-
20
-
-
70350545720
-
A homozygous CARD9 mutation in a family with susceptibility to fungal infections
-
Glocker EO, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med 2009;361:1727-1735.
-
(2009)
N Engl J Med
, vol.361
, pp. 1727-1735
-
-
Glocker, E.O.1
Hennigs, A.2
Nabavi, M.3
Schäffer, A.A.4
Woellner, C.5
Salzer, U.6
Pfeifer, D.7
Veelken, H.8
Warnatz, K.9
Tahami, F.10
-
21
-
-
84896722382
-
CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies
-
e3
-
Wang X, Wang W, Lin Z, Wang X, Li T, Yu J, Liu W, Tong Z, Xu Y, Zhang J, et al. CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies. J Allergy Clin Immunol 2014;133:905-908, e3.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 905-908
-
-
Wang, X.1
Wang, W.2
Lin, Z.3
Wang, X.4
Li, T.5
Yu, J.6
Liu, W.7
Tong, Z.8
Xu, Y.9
Zhang, J.10
-
22
-
-
84926625573
-
Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection
-
Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, et al. Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. J Infect Dis 2015;211:1241-1250.
-
(2015)
J Infect Dis
, vol.211
, pp. 1241-1250
-
-
Lanternier, F.1
Barbati, E.2
Meinzer, U.3
Liu, L.4
Pedergnana, V.5
Migaud, M.6
Héritier, S.7
Chomton, M.8
Frémond, M.L.9
Gonzales, E.10
-
23
-
-
84886743479
-
Deep dermatophytosis and inherited CARD9 deficiency
-
Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Boudghene Stambouli O, et al. Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med 2013;369:1704-1714.
-
(2013)
N Engl J Med
, vol.369
, pp. 1704-1714
-
-
Lanternier, F.1
Pathan, S.2
Vincent, Q.B.3
Liu, L.4
Cypowyj, S.5
Prando, C.6
Migaud, M.7
Taibi, L.8
Ammar-Khodja, A.9
Boudghene Stambouli, O.10
-
24
-
-
84863727054
-
Novel insights into the innate immune response to non-tuberculous Mycobacteria
-
Heinz LX, Schroder K. Novel insights into the innate immune response to non-tuberculous Mycobacteria. Immunol Cell Biol 2012;90:568-570.
-
(2012)
Immunol Cell Biol
, vol.90
, pp. 568-570
-
-
Heinz, L.X.1
Schroder, K.2
-
25
-
-
77951037591
-
The adaptor molecule CARD9 is essential for tuberculosis control
-
Dorhoi A, Desel C, Yeremeev V, Pradl L, Brinkmann V, Mollenkopf HJ, Hanke K, Gross O, Ruland J, Kaufmann SH. The adaptor molecule CARD9 is essential for tuberculosis control. J Exp Med 2010;207: 777-792.
-
(2010)
J Exp Med
, vol.207
, pp. 777-792
-
-
Dorhoi, A.1
Desel, C.2
Yeremeev, V.3
Pradl, L.4
Brinkmann, V.5
Mollenkopf, H.J.6
Hanke, K.7
Gross, O.8
Ruland, J.9
Kaufmann, S.H.10
-
26
-
-
0037445208
-
Nontuberculous mycobacteria. II: Nested-cohort study of impact on cystic fibrosis lung disease
-
Olivier KN, Weber DJ, Lee JH, Handler A, Tudor G, Molina PL, Tomashefski J, Knowles MR; Nontuberculous Mycobacteria in Cystic Fibrosis Study Group. Nontuberculous mycobacteria. II: nested-cohort study of impact on cystic fibrosis lung disease. Am J Respir Crit Care Med 2003;167:835-840.
-
(2003)
Am J Respir Crit Care Med
, vol.167
, pp. 835-840
-
-
Olivier, K.N.1
Weber, D.J.2
Lee, J.H.3
Handler, A.4
Tudor, G.5
Molina, P.L.6
Tomashefski, J.7
Knowles, M.R.8
-
27
-
-
0037445273
-
Nontuberculous mycobacteria. I: Multicenter prevalence study in cystic fibrosis
-
Olivier KN, Weber DJ, Wallace RJ Jr, Faiz AR, Lee JH, Zhang Y, Brown-Elliot BA, Handler A, Wilson RW, Schechter MS, et al.; Nontuberculous Mycobacteria in Cystic Fibrosis Study Group. Nontuberculous mycobacteria. I: Multicenter prevalence study in cystic fibrosis. Am J Respir Crit Care Med 2003;167:828-834.
-
(2003)
Am J Respir Crit Care Med
, vol.167
, pp. 828-834
-
-
Olivier, K.N.1
Weber, D.J.2
Wallace, R.J.3
Faiz, A.R.4
Lee, J.H.5
Zhang, Y.6
Brown-Elliot, B.A.7
Handler, A.8
Wilson, R.W.9
Schechter, M.S.10
-
28
-
-
33750057649
-
Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection
-
Ziedalski TM, Kao PN, Henig NR, Jacobs SS, Ruoss SJ. Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. Chest 2006;130:995-1002.
-
(2006)
Chest
, vol.130
, pp. 995-1002
-
-
Ziedalski, T.M.1
Kao, P.N.2
Henig, N.R.3
Jacobs, S.S.4
Ruoss, S.J.5
-
29
-
-
84947899465
-
Recent advances in primary ciliary dyskinesia genetics
-
Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9.
-
(2015)
J Med Genet
, vol.52
, pp. 1-9
-
-
Kurkowiak, M.1
Ziętkiewicz, E.2
Witt, M.3
-
30
-
-
84896534982
-
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype
-
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 2014;189:707-717.
-
(2014)
Am J Respir Crit Care Med
, vol.189
, pp. 707-717
-
-
Knowles, M.R.1
Ostrowski, L.E.2
Leigh, M.W.3
Sears, P.R.4
Davis, S.D.5
Wolf, W.E.6
Hazucha, M.J.7
Carson, J.L.8
Olivier, K.N.9
Sagel, S.D.10
-
31
-
-
0031029003
-
Role of macrophage-stimulating protein and its receptor, RON tyrosine kinase, in ciliary motility
-
Sakamoto O, Iwama A, Amitani R, Takehara T, Yamaguchi N, Yamamoto T, Masuyama K, Yamanaka T, Ando M, Suda T. Role of macrophage-stimulating protein and its receptor, RON tyrosine kinase, in ciliary motility. J Clin Invest 1997;99:701-709.
-
(1997)
J Clin Invest
, vol.99
, pp. 701-709
-
-
Sakamoto, O.1
Iwama, A.2
Amitani, R.3
Takehara, T.4
Yamaguchi, N.5
Yamamoto, T.6
Masuyama, K.7
Yamanaka, T.8
Ando, M.9
Suda, T.10
-
32
-
-
0033855359
-
Elevated levels of macrophage-stimulating protein in induced sputum of patients with bronchiectasis
-
Takano Y, Sakamoto O, Suga M, Suda T, Ando M. Elevated levels of macrophage-stimulating protein in induced sputum of patients with bronchiectasis. Respir Med 2000;94:784-790.
-
(2000)
Respir Med
, vol.94
, pp. 784-790
-
-
Takano, Y.1
Sakamoto, O.2
Suga, M.3
Suda, T.4
Ando, M.5
-
33
-
-
0026694184
-
Mycobacterium avium complex pulmonary disease presenting as an isolated lingular or middle lobe pattern: The Lady Windermere syndrome
-
Reich JM, Johnson RE. Mycobacterium avium complex pulmonary disease presenting as an isolated lingular or middle lobe pattern: the Lady Windermere syndrome. Chest 1992;101:1605-1609.
-
(1992)
Chest
, vol.101
, pp. 1605-1609
-
-
Reich, J.M.1
Johnson, R.E.2
-
34
-
-
0025945756
-
Pectus excavatum and scoliosis: Thoracic anomalies associated with pulmonary disease caused by Mycobacterium avium complex
-
Iseman MD, Buschman DL, Ackerson LM. Pectus excavatum and scoliosis: thoracic anomalies associated with pulmonary disease caused by Mycobacterium avium complex. Am Rev Respir Dis 1991; 144:914-916.
-
(1991)
Am Rev Respir Dis
, vol.144
, pp. 914-916
-
-
Iseman, M.D.1
Buschman, D.L.2
Ackerson, L.M.3
-
35
-
-
84872535592
-
Patients with nontuberculous mycobacterial lung disease exhibit unique body and immune phenotypes
-
Kartalija M, Ovrutsky AR, Bryan CL, Pott GB, Fantuzzi G, Thomas J, Strand MJ, Bai X, Ramamoorthy P, Rothman MS, et al. Patients with nontuberculous mycobacterial lung disease exhibit unique body and immune phenotypes. Am J Respir Crit Care Med 2013;187:197-205.
-
(2013)
Am J Respir Crit Care Med
, vol.187
, pp. 197-205
-
-
Kartalija, M.1
Ovrutsky, A.R.2
Bryan, C.L.3
Pott, G.B.4
Fantuzzi, G.5
Thomas, J.6
Strand, M.J.7
Bai, X.8
Ramamoorthy, P.9
Rothman, M.S.10
-
36
-
-
61649103114
-
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
-
Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat 2009;30:334-341.
-
(2009)
Hum Mutat
, vol.30
, pp. 334-341
-
-
Callewaert, B.L.1
Loeys, B.L.2
Ficcadenti, A.3
Vermeer, S.4
Landgren, M.5
Kroes, H.Y.6
Yaron, Y.7
Pope, M.8
Foulds, N.9
Boute, O.10
-
37
-
-
0037093658
-
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome
-
Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. Am J Med Genet 2002;109:284-290.
-
(2002)
Am J Med Genet
, vol.109
, pp. 284-290
-
-
Giunta, C.1
Nuytinck, L.2
Raghunath, M.3
Hausser, I.4
De Paepe, A.5
Steinmann, B.6
-
38
-
-
0033988509
-
Compound heterozygosity for a diseasecausing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?
-
Giunta C, Steinmann B. Compound heterozygosity for a diseasecausing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? Am J Med Genet 2000;90:72-79.
-
(2000)
Am J Med Genet
, vol.90
, pp. 72-79
-
-
Giunta, C.1
Steinmann, B.2
-
39
-
-
11344280403
-
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
-
Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat 2005;25:28-37.
-
(2005)
Hum Mutat
, vol.25
, pp. 28-37
-
-
Malfait, F.1
Coucke, P.2
Symoens, S.3
Loeys, B.4
Nuytinck, L.5
De Paepe, A.6
-
40
-
-
27944483003
-
Mutations in the beta-subunit of the epithelial Na1 channel in patients with a cystic fibrosis-like syndrome
-
Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na1 channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet 2005;14:3493-3498.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3493-3498
-
-
Sheridan, M.B.1
Fong, P.2
Groman, J.D.3
Conrad, C.4
Flume, P.5
Diaz, R.6
Harris, C.7
Knowles, M.8
Cutting, G.R.9
-
41
-
-
84866393167
-
Spatial clusters of nontuberculous mycobacterial lung disease in the United States
-
Adjemian J, Olivier KN, Seitz AE, Falkinham JO III, Holland SM, Prevots DR. Spatial clusters of nontuberculous mycobacterial lung disease in the United States. Am J Respir Crit Care Med 2012;186:553-558.
-
(2012)
Am J Respir Crit Care Med
, vol.186
, pp. 553-558
-
-
Adjemian, J.1
Olivier, K.N.2
Seitz, A.E.3
Falkinham, J.O.4
Holland, S.M.5
Prevots, D.R.6
-
42
-
-
84919363553
-
Gene expression in relation to exhaled nitric oxide identifies novel asthma phenotypes with unique biomolecular pathways
-
Modena BD, Tedrow JR, Milosevic J, Bleecker ER, Meyers DA, Wu W, Bar-Joseph Z, Erzurum SC, Gaston BM, Busse WW, et al. Gene expression in relation to exhaled nitric oxide identifies novel asthma phenotypes with unique biomolecular pathways. Am J Respir Crit Care Med 2014;190:1363-1372.
-
(2014)
Am J Respir Crit Care Med
, vol.190
, pp. 1363-1372
-
-
Modena, B.D.1
Tedrow, J.R.2
Milosevic, J.3
Bleecker, E.R.4
Meyers, D.A.5
Wu, W.6
Bar-Joseph, Z.7
Erzurum, S.C.8
Gaston, B.M.9
Busse, W.W.10
-
43
-
-
84867131448
-
Environment or host?: A case-control study of risk factors for Mycobacterium avium complex lung disease
-
Dirac MA, Horan KL, Doody DR, Meschke JS, Park DR, Jackson LA, Weiss NS, Winthrop KL, Cangelosi GA. Environment or host?: A case-control study of risk factors for Mycobacterium avium complex lung disease. Am J Respir Crit Care Med 2012;186:684-691.
-
(2012)
Am J Respir Crit Care Med
, vol.186
, pp. 684-691
-
-
Dirac, M.A.1
Horan, K.L.2
Doody, D.R.3
Meschke, J.S.4
Park, D.R.5
Jackson, L.A.6
Weiss, N.S.7
Winthrop, K.L.8
Cangelosi, G.A.9
-
44
-
-
84867137463
-
Host susceptibility or environmental exposure in Mycobacterium avium complex lung disease: It takes two to tango
-
Marras TK. Host susceptibility or environmental exposure in Mycobacterium avium complex lung disease: it takes two to tango. Am J Respir Crit Care Med 2012;186:585-586.
-
(2012)
Am J Respir Crit Care Med
, vol.186
, pp. 585-586
-
-
Marras, T.K.1
-
45
-
-
84890145395
-
Digenic inheritance in medical genetics
-
Schäffer AA. Digenic inheritance in medical genetics. J Med Genet 2013;50:641-652.
-
(2013)
J Med Genet
, vol.50
, pp. 641-652
-
-
Schäffer, A.A.1
-
46
-
-
84907348494
-
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
-
Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood 2014;124: 1331-1334.
-
(2014)
Blood
, vol.124
, pp. 1331-1334
-
-
Zhang, K.1
Chandrakasan, S.2
Chapman, H.3
Valencia, C.A.4
Husami, A.5
Kissell, D.6
Johnson, J.A.7
Filipovich, A.H.8
-
47
-
-
84911897085
-
Environmental risks for nontuberculous mycobacteria: Individual exposures and climatic factors in the cystic fibrosis population
-
Prevots DR, Adjemian J, Fernandez AG, Knowles MR, Olivier KN. Environmental risks for nontuberculous mycobacteria: individual exposures and climatic factors in the cystic fibrosis population. Ann Am Thorac Soc 2014;11:1032-1038.
-
(2014)
Ann Am Thorac Soc
, vol.11
, pp. 1032-1038
-
-
Prevots, D.R.1
Adjemian, J.2
Fernandez, A.G.3
Knowles, M.R.4
Olivier, K.N.5
-
48
-
-
84874397842
-
Underlying host risk factors for nontuberculous mycobacterial lung disease
-
Chan ED, Iseman MD. Underlying host risk factors for nontuberculous mycobacterial lung disease. Semin Respir Crit Care Med 2013;34: 110-123.
-
(2013)
Semin Respir Crit Care Med
, vol.34
, pp. 110-123
-
-
Chan, E.D.1
Iseman, M.D.2
-
49
-
-
70349970943
-
Nontuberculous mycobacteria infections and anti-tumor necrosis factor-a therapy
-
Winthrop KL, Chang E, Yamashita S, Iademarco MF, LoBue PA. Nontuberculous mycobacteria infections and anti-tumor necrosis factor-a therapy. Emerg Infect Dis 2009;15:1556-1561.
-
(2009)
Emerg Infect Dis
, vol.15
, pp. 1556-1561
-
-
Winthrop, K.L.1
Chang, E.2
Yamashita, S.3
Iademarco, M.F.4
LoBue, P.A.5
|