Detalhe da pesquisa
1.
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Clin Genet
; 99(3): 430-436, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33294969
2.
A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.
J Allergy Clin Immunol
; 145(1): 368-378.e13, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31194989
3.
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Int J Mol Sci
; 22(8)2021 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917126
4.
Evaluation of Chimerism Dynamics after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Diseases.
Biol Blood Marrow Transplant
; 24(5): 1088-1093, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29292059
5.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Eur J Hum Genet
; 32(3): 342-349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177406
6.
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.
Hum Mutat
; 34(5): 754-62, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23441071
7.
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Epilepsia Open
; 8(4): 1314-1330, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491868
8.
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.
J Cyst Fibros
; 22(3): 525-537, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543707
9.
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Cancers (Basel)
; 15(6)2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980803
10.
A novel splicing mutation causes analbuminemia in a Portuguese boy.
Mol Genet Metab
; 105(3): 479-83, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22227324
11.
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Front Genet
; 13: 877443, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35386286
12.
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.
Birth Defects Res
; 113(15): 1161-1165, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34156759
13.
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Front Genet
; 12: 744068, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950187
14.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Cancers (Basel)
; 13(8)2021 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33919865
15.
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
Hum Mutat
; 31(4): E1261-85, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104590
16.
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Genet Med
; 12(7): 431-9, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20531206
17.
Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients.
Clin Immunol
; 131(1): 84-91, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19138884
18.
Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.
J Pharmacol Exp Ther
; 330(3): 783-91, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19491324
19.
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
Hum Mutat
; 29(1): 206, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18157832
20.
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.
Hum Mutat
; 28(2): 168-76, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16986122