Detalhe da pesquisa
1.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32427345
2.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Am J Med Genet A
; 176(3): 668-675, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29341480
3.
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
Clin Exp Ophthalmol
; 44(9): 757-762, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27283035
4.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Mol Genet Metab
; 110(3): 352-61, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24035636
5.
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.
Am J Med Genet A
; 161A(4): 865-70, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23495096
6.
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
Neuro Endocrinol Lett
; 27(5): 579-85, 2006 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17159828
7.
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.
Eur J Med Genet
; 58(10): 550-5, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26370006
8.
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
Mol Cytogenet
; 7(1): 17, 2014 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-24581273
9.
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Nat Genet
; 46(1): 70-6, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24241535
10.
Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes.
Eur J Med Genet
; 56(3): 171-3, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23274590