Detalhe da pesquisa
1.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology
; 130(1): 68-76, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934205
2.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
3.
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.
Genes Chromosomes Cancer
; 60(1): 5-16, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830346
4.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
5.
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
Am J Med Genet A
; 176(9): 1950-1955, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144375
6.
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Am J Med Genet A
; 176(5): 1108-1114, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383814
7.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
8.
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
J Med Genet
; 50(11): 765-71, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922384
9.
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
Am J Med Genet A
; 161A(8): 2027-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813970
10.
Resolution of left ventricular and asymmetric septal hypertrophy after resection of left ventricular outflow obstruction in a patient with troponin-positive hypertrophic obstructive cardiomyopathy: a case report.
Cardiol Young
; 20(5): 580-3, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20663266
11.
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Mol Vis
; 14: 118-24, 2008 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-18253096
12.
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
J Mol Med (Berl)
; 93(7): 773-82, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25686753
13.
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Cilia
; 1(1): 18, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23351400
14.
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Eur J Hum Genet
; 20(4): 381-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22126750
15.
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Eur J Hum Genet
; 18(6): 648-55, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104244
16.
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.
Am J Med Genet A
; 128A(2): 179-84, 2004 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15214013
17.
Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.
Am J Med Genet A
; 143A(6): 615-8, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17318843