Detalhe da pesquisa
1.
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Mov Disord
; 35(12): 2343-2347, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949189
2.
Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome.
Eur J Pediatr
; 179(9): 1481-1486, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198629
3.
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.
Mol Vis
; 25: 1-11, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820140
4.
Migraine is associated with high brain 5-HT levels as indexed by 5-HT4 receptor binding.
Cephalalgia
; 39(4): 526-532, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089402
5.
Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study.
BMC Med Genet
; 19(1): 207, 2018 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514227
6.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Ann Neurol
; 79(3): 428-36, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26677014
7.
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Hum Mol Genet
; 23(23): 6163-76, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986922
8.
Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data.
Diabetologia
; 58(5): 1006-12, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25660259
9.
Cardiac involvement in myotonic dystrophy: a nationwide cohort study.
Eur Heart J
; 35(32): 2158-64, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24742887
10.
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Nat Genet
; 38(6): 668-73, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16699518
11.
High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients.
Diabetologia
; 57(6): 1173-81, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604100
12.
Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women.
Environ Health
; 13(1): 19, 2014 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24629213
13.
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
Nat Genet
; 31(3): 276-8, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12089525
14.
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene.
Eur J Hum Genet
; 31(12): 1440-1446, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732664
15.
Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction.
JAMA Psychiatry
; 80(4): 296-304, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36753296
16.
Heredity of supraglottic exercise-induced laryngeal obstruction.
Eur Respir J
; 50(2)2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818875
17.
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
BMC Med Genet
; 13: 65, 2012 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22857269
19.
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.
Int J Audiol
; 51(6): 433-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369226
20.
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
Neurogenetics
; 12(3): 247-51, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21643797