Detalhe da pesquisa
1.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
2.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
3.
Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor.
J Pediatr Gastroenterol Nutr
; 65(1): e5-e15, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28644354
4.
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Hum Mutat
; 35(2): 236-47, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186861
5.
Hypertension with hidden causes: the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion.
J Hypertens
; 42(1): 179-184, 2024 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698889
6.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Genome Med
; 16(1): 72, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38811945
7.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293053
8.
Malignant transformation of Slp65-deficient pre-B cells involves disruption of the Arf-Mdm2-p53 tumor suppressor pathway.
Blood
; 115(7): 1385-93, 2010 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-20008789
9.
Constitutive activation of Bruton's tyrosine kinase induces the formation of autoreactive IgM plasma cells.
Eur J Immunol
; 40(9): 2643-54, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20623551
10.
Educational paper: syndromic forms of primary immunodeficiency.
Eur J Pediatr
; 170(3): 295-308, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21337117
11.
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome.
J Clin Med
; 10(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34362034
12.
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.
J Clin Med
; 10(22)2021 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830739
13.
Bruton's tyrosine kinase cooperates with the B cell linker protein SLP-65 as a tumor suppressor in Pre-B cells.
J Exp Med
; 198(1): 91-8, 2003 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-12835482
14.
ANKRD26-related thrombocytopenia and myeloid malignancies.
Blood
; 122(11): 1987-9, 2013 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030261
15.
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.
J Clin Endocrinol Metab
; 105(12)2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877518
16.
Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.
Mol Genet Genomic Med
; 6(6): 1220-1224, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264515
17.
Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias.
Int J Hematol
; 102(1): 140-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728710
18.
Hematopoietic Stem Cell Transplantation in a Patient With ICF2 Syndrome Presenting With EBV-Induced Hemophagocytic Lymphohystiocytosis.
Transplantation
; 100(7): e35-6, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27326813
19.
Bruton's tyrosine kinase and phospholipase Cgamma2 mediate chemokine-controlled B cell migration and homing.
Immunity
; 26(1): 93-104, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17239630
20.
Involvement of SLP-65 and Btk in tumor suppression and malignant transformation of pre-B cells.
Semin Immunol
; 18(1): 67-76, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16300960