Detalhe da pesquisa
1.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Am J Hum Genet
; 105(5): 1023-1029, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630788
2.
Recurrent sterile abscesses in a case of X-linked neutropenia.
Pediatr Dermatol
; 37(4): 742-744, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202653
3.
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Clin Immunol
; 175: 143-146, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28043923
4.
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
J Allergy Clin Immunol
; 139(6): 2016-2020.e5, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111307
5.
Successful approach to treatment of Helicobacter bilis infection in X-linked agammaglobulinemia.
J Clin Immunol
; 32(6): 1404-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843217
6.
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Hum Mol Genet
; 18(12): 2257-65, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19336477
7.
Use of propranolol in treating hemangiomas.
Can Fam Physician
; 57(3): 302-3, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21402965
8.
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
Dev Med Child Neurol
; 52(8): 725-32, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20653736
9.
Combined immunodeficiency associated with homozygous MALT1 mutations.
J Allergy Clin Immunol
; 133(5): 1458-62, 1462.e1-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24332264
10.
Cystic bone lesions in a boy with Darier disease: a magnetic resonance imaging assessment.
J Am Acad Dermatol
; 60(6): 1062-6, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19467380
11.
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Hum Mutat
; 29(7): 959-65, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18446851
12.
A comparison of disease severity among affected male versus female patients with PHACE syndrome.
J Am Acad Dermatol
; 58(1): 81-7, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18029054
13.
Keratosis pilaris rubra: a common but underrecognized condition.
Arch Dermatol
; 142(12): 1611-6, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17178988
14.
Childhood bullous pemphigoid: a rare manifestation of chronic renal allograft rejection.
J Am Acad Dermatol
; 65(1): 217-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21679824
15.
Acute onset of generalized pruritic rash in a toddler. Diagnosis: systemic allergic (contact) dermatitis to nickel from ingestion of metal coins.
Pediatr Dermatol
; 28(1): 53-4, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21276052
16.
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
Pediatrics
; 136(1): e203-14, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26055853
17.
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus.
J Am Acad Dermatol
; 61(4): 727-8, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19751886
18.
Quiz page. Acute rheumatic fever with concomitant poststreptococcal glomerulonephritis.
Am J Kidney Dis
; 50(1): A33-5, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17687804
19.
Stevens-Johnson syndrome and toxic epidermal necrolysis.
Adv Dermatol
; 18: 151-73, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12528405
20.
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Nat Genet
; 41(7): 829-32, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19525956