Detalhe da pesquisa
1.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
J Med Genet
; 60(4): 337-345, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927022
2.
Oncogenetic landscape of lymphomagenesis in coeliac disease.
Gut
; 71(3): 497-508, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579790
3.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Am J Hum Genet
; 101(6): 1006-1012, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198720
4.
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Am J Med Genet A
; 176(1): 181-186, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159987
5.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566479
6.
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
J Pediatr Gastroenterol Nutr
; 64(3): 378-384, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253662
7.
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.
Gastroenterology
; 153(2): 609-611.e3, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28683258
8.
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Nat Commun
; 14(1): 3728, 2023 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349339
9.
A Humanized Mouse Strain That Develops Spontaneously Immune-Mediated Diabetes.
Front Immunol
; 12: 748679, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34721418
10.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Nat Commun
; 11(1): 5341, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087723
11.
Loss of ARHGEF1 causes a human primary antibody deficiency.
J Clin Invest
; 129(3): 1047-1060, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30521495
12.
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
EMBO Mol Med
; 10(4)2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567797