Detalhe da pesquisa
1.
Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
Am J Med Genet A
; 191(5): 1145-1163, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786328
2.
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
Hum Genet
; 141(3-4): 607-622, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387732
3.
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Exp Dermatol
; 29(10): 961-969, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885477
4.
Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.
Cerebellum
; 13(5): 568-79, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906824
5.
Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.
J Genet Couns
; 23(1): 89-96, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813298
6.
Germline EGFR c.2527G > A (p.V843I) variant and familial lung cancer.
Lung Cancer
; 181: 107247, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209596
7.
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
J Cardiovasc Transl Res
; 16(6): 1276-1286, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37418234
8.
Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Front Endocrinol (Lausanne)
; 13: 887371, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35600579
9.
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
Endocrine
; 75(1): 48-58, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846681
10.
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Cerebellum
; 10(2): 184-98, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21399888
11.
A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study.
Cancers (Basel)
; 13(11)2021 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34072979
12.
Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.
Cerebellum Ataxias
; 2: 1, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331044
13.
SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.
J Community Genet
; 6(3): 265-73, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893506
14.
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.
Int J Clin Exp Med
; 7(12): 5896-903, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25664129
15.
Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.
J Community Genet
; 4(4): 451-60, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23673432
16.
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.
Eur J Hum Genet
; 20(1): 41-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21934711
17.
Uncommon features in Cuban families affected with Friedreich ataxia.
Neurosci Lett
; 472(2): 85-9, 2010 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20109528
18.
Caracterización integral de la ataxia espinocerebelosa 2 en Cuba y su aplicación en proyectos de intervención / Comprehensive characterization of spinocerebellar ataxia type 2 in Cuba and its application in intervention projects
Rev. cuba. salud pública
; 37(3): 230-244, jul.-set. 2011.
Artigo
em Espanhol
| LILACS | ID: lil-625563