Detalhe da pesquisa
1.
Impact of genome build on RNA-seq interpretation and diagnostics.
Am J Hum Genet;
2024 May 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38834072
2.
Oral Sebetralstat for On-Demand Treatment of Hereditary Angioedema Attacks.
N Engl J Med;
2024 May 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38819658
3.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet;
109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36368327
4.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet;
109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35051358
5.
Efficacy and safety of ligelizumab in adults and adolescents with chronic spontaneous urticaria: results of two phase 3 randomised controlled trials.
Lancet;
403(10422): 147-159, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38008109
6.
Inhibition of Prekallikrein for Hereditary Angioedema.
N Engl J Med;
386(11): 1026-1033, 2022 03 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35294812
7.
BTK signaling-a crucial link in the pathophysiology of chronic spontaneous urticaria.
J Allergy Clin Immunol;
153(5): 1229-1240, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38141832
8.
Volunteerism Addressing Environmental Disparities in Allergy (VAEDIA): The presidential initiative to combat environmental injustice in allergy and immunology-a Work Group Report of the AAAAI VAEDIA task force.
J Allergy Clin Immunol;
2024 May 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38795076
9.
Dupilumab in patients with chronic spontaneous urticaria (LIBERTY-CSU CUPID): Two randomized, double-blind, placebo-controlled, phase 3 trials.
J Allergy Clin Immunol;
2024 Feb 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38431226
10.
Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus.
J Allergy Clin Immunol;
2024 Apr 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38670233
11.
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.
Hum Mol Genet;
31(13): 2164-2184, 2022 07 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35094088
12.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet;
31(4): 625-637, 2022 02 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34559195
13.
An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: a two-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial.
Lancet;
401(10375): 458-469, 2023 02 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36774155
14.
Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet;
401(10382): 1079-1090, 2023 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36868261
15.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Genet Med;
: 101166, 2024 May 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38767059
16.
A phase 2 open-label extension study of prekallikrein inhibition with donidalorsen for hereditary angioedema.
Allergy;
79(3): 724-734, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38009241
17.
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Am J Med Genet A;
: e63627, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38613168
18.
Psychometric Evaluation of the Multidimensional Scale-Uremic Pruritus in Dialysis Patients (UP-Dial): Comparison in Hemodialysis and Peritoneal Dialysis Patients with Chronic Pruritus.
Br J Dermatol;
2024 Mar 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38529648
19.
Benralizumab does not elicit therapeutic effect in patients with chronic spontaneous urticaria: results from the phase 2b multinational, randomised, double-blind, placebo-controlled ARROYO trial.
Br J Dermatol;
2024 Feb 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38367194
20.
Hereditary angioedema outcomes in US patients switched from injectable long-term prophylactic medication to oral berotralstat.
Ann Allergy Asthma Immunol;
132(4): 505-511.e1, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38006972