Detalhe da pesquisa
1.
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
J Med Genet
; 61(5): 411-419, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290824
2.
[Management of genetic renal disorders: local experience and importance of the network]. / Prise en charge des maladies rénales génétiques : expérience locale et importance du réseau.
Rev Med Suisse
; 19(832): 1245-1249, 2023 Jun 21.
Artigo
em Francês
| MEDLINE | ID: mdl-37341318
3.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A
; 185(12): 3831-3837, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296525
4.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
5.
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
BMC Neurol
; 20(1): 17, 2020 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31931739
6.
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Am J Med Genet A
; 191(6): 1658-1663, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905089
7.
[Multidisciplinary cardiogenetic counselling]. / Consultation multidisciplinaire de cardiogénétique.
Rev Med Suisse
; 13(564): 1094-1099, 2017 May 24.
Artigo
em Francês
| MEDLINE | ID: mdl-28639772
8.
Combined Lung and Liver Transplantation for Short Telomere Syndrome.
Liver Transpl
; 26(6): 840-844, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080954
9.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747006
10.
Chronic potassium depletion increases adrenal progesterone production that is necessary for efficient renal retention of potassium.
Kidney Int
; 80(3): 256-62, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21326170
11.
Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.
Front Genet
; 12: 529236, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34220921
12.
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
Genes (Basel)
; 12(9)2021 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573409
13.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Genes (Basel)
; 13(1)2021 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052370
14.
Common genetic variation of beta1- and beta2-adrenergic receptor and response to four classes of antihypertensive treatment.
Pharmacogenet Genomics
; 20(5): 342-5, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20300048
15.
Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.
Heart Rhythm
; 4(5): 603-7, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17467628
16.
Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.
J Am Coll Cardiol
; 40(3): 511-4, 2002 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-12142119
17.
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
BMC Med Genet
; 6: 4, 2005 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15661075
18.
Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).
Cardiovasc Res
; 59(3): 603-11, 2003 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14499861
19.
Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study.
Am J Hypertens
; 22(2): 169-75, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19057513
20.
Effects of mineralocorticoid and K+ concentration on K+ secretion and ROMK channel expression in a mouse cortical collecting duct cell line.
Am J Physiol Renal Physiol
; 296(5): F966-75, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19297448