Detalhe da pesquisa
1.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
; 60(11): 1127-1132, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055165
2.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Genet Med
; 22(11): 1759-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724172
3.
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Am J Hum Genet
; 99(5): 1117-1129, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773430
4.
Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.
Int J Legal Med
; 133(6): 1733-1742, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455979
5.
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Genet Med
; 20(8): 872-881, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144511
6.
Late-onset severe long QT syndrome.
Ann Noninvasive Electrocardiol
; 23(4): e12517, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194874
7.
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
BMC Med Genet
; 18(1): 22, 2017 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28245802
8.
Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling.
PLoS Biol
; 12(3): e1001820, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667537
9.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Am J Hum Genet
; 92(1): 144-9, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273569
10.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Ann Neurol
; 75(1): 147-54, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24272827
11.
Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.
Eur J Haematol
; 94(5): 456-62, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24853125
12.
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet
; 51(10): 677-88, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106414
13.
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Am J Med Genet A
; 164A(5): 1277-83, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664804
14.
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Prenat Diagn
; 34(6): 525-33, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24919595
15.
Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1.
Am J Respir Crit Care Med
; 197(5): 661-662, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323927
16.
LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.
Aging Cell
; : e14189, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757373
17.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
18.
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Am J Med Genet A
; 161A(8): 1853-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794250
19.
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
J Med Genet
; 49(11): 713-20, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125460
20.
[Genetic testing in the fetus and child]. / Genetische Untersuchungen während der Schwangerschaft und beim Kind.
Ther Umsch
; 70(11): 621-31, 2013 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-24168795