Detalhe da pesquisa
1.
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Nat Immunol
; 15(9): 839-45, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064072
2.
Proposed mechanism for the selection of lactase persistence in childhood.
Bioessays
; 45(7): e2200243, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37075758
3.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
J Pediatr
; 254: 39-47.e4, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265570
4.
Why and when was lactase persistence selected for? Insights from Central Asian herders and ancient DNA.
PLoS Biol
; 18(6): e3000742, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511234
5.
Comparison of Endoscopic Dilatation and Heller's Myotomy for Treating Esophageal Achalasia in Children: A Multicenter Study.
J Pediatr
; 251: 134-139.e2, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35853483
6.
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
J Pediatr
; 242: 192-200.e3, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788681
7.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
8.
[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations]. / Diagnostic d'une maladie inflammatoire rare et sévère de l'intestin chez un nourrisson présentant des ulcérations péri-orificielles.
Ann Pathol
; 42(5): 432-437, 2022 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-34980475
9.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
10.
Comparison of Symptom Control in Pediatric Gastroparesis Using Endoscopic Pyloric Botulinum Toxin Injection and Dilatation.
J Pediatr Gastroenterol Nutr
; 73(3): 314-318, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34091544
11.
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
J Pediatr Gastroenterol Nutr
; 72(6): 826-832, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976085
12.
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.
J Pediatr Gastroenterol Nutr
; 73(4): e80-e86, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34091542
13.
A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults.
J Pediatr Gastroenterol Nutr
; 73(3): 333-337, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117192
14.
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.
Prenat Diagn
; 41(4): 434-439, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350492
15.
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.
Clin Immunol
; 210: 108316, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31770611
16.
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
J Pediatr
; 220: 184-192.e6, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145964
17.
Correlation Between Clinical Signs and High-resolution Manometry Data in Children.
J Pediatr Gastroenterol Nutr
; 68(5): 642-647, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628985
18.
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Hum Mutat
; 39(6): 774-789, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527791
19.
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Am J Med Genet A
; 176(3): 727-732, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383842
20.
Survey on Clinical Practice of Primary Prophylaxis in Portal Hypertension in Children.
J Pediatr Gastroenterol Nutr
; 64(4): 524-527, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27801752