Detalhe da pesquisa
1.
Macrocephaly associated with the DICER1 syndrome.
Genet Med
; 19(2): 244-248, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27441995
2.
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.
Cancer
; 122(23): 3673-3681, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27496084
3.
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.
Blood
; 123(15): 2308-16, 2014 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-24523241
4.
WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.
Blood
; 120(1): 181-9, 2012 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-22596258
5.
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome.
Blood
; 118(18): 4957-62, 2011 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-21890643
6.
AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome.
J Cell Mol Med
; 15(10): 2071-81, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21070597
7.
Geosmithia argillacea: an emerging cause of invasive mycosis in human chronic granulomatous disease.
Clin Infect Dis
; 52(6): e136-43, 2011 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21367720
8.
Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.
Am J Respir Crit Care Med
; 178(10): 1066-74, 2008 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18703788
9.
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.
JAMA Oncol
; 3(12): 1640-1645, 2017 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28772286
10.
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
J Clin Endocrinol Metab
; 102(5): 1614-1622, 2017 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28323992
11.
CT of pleural abnormalities in lymphangioleiomyomatosis and comparison of pleural findings after different types of pleurodesis.
AJR Am J Roentgenol
; 186(4): 1007-12, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16554571
12.
The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment.
Am J Respir Crit Care Med
; 173(1): 105-11, 2006 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16210669
13.
Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis.
Proc Natl Acad Sci U S A
; 101(50): 17462-7, 2004 Dec 14.
Artigo
Inglês
| MEDLINE | ID: mdl-15583138