Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist.
Reproduction
; 154(4): 387-401, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28684548
6.
Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.
Behav Genet
; 47(3): 305-322, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28204906
7.
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.
Reprod Biomed Online
; 35(5): 562-570, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882431
8.
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.
J Pediatr Gastroenterol Nutr
; 64(1): 37-41, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027214
9.
Erratum to: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.
Behav Genet
; 47(3): 323, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28337630
10.
A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.
Cells
; 11(1)2021 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35011612
11.
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.
Clin Res Hepatol Gastroenterol
; 45(6): 101640, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662777
12.
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Eur J Med Genet
; 64(10): 104294, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352414
13.
Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls.
Cells
; 9(2)2020 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012908
14.
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.
Atherosclerosis
; 293: 86-91, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31877397
15.
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.
Stroke
; 40(2): e11-4, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19095983
16.
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.
Eur J Med Genet
; 62(10): 103712, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31276831
17.
HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.
Mech Ageing Dev
; 129(7-8): 449-59, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18513784
18.
The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review.
Basic Clin Androl
; 28: 7, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29946470
19.
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Front Immunol
; 9: 1036, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29868001
20.
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.
Neuromuscul Disord
; 17(3): 248-53, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17303424