Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet
; 32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440975
3.
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 561(7722): E7, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977062
4.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 557(7706): 564-569, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769720
5.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121912
6.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
7.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
8.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
PLoS Genet
; 14(12): e1007866, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586382
9.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
10.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32694869
11.
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Am J Med Genet A
; 182(9): 2129-2132, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627382
12.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Genet Med
; 21(12): 2734-2743, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263216
13.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Clin Endocrinol (Oxf)
; 88(6): 820-829, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464738
14.
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
em Inglês
| MEDLINE | ID: mdl-29341480
15.
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
Hum Mutat
; 38(12): 1731-1739, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28869677
16.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
17.
Congenital cutaneous ossification.
J Paediatr Child Health
; 58(7): 1262-1264, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706128
18.
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Am J Med Genet C Semin Med Genet
; 166C(3): 302-14, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25169058
19.
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
Am J Med Genet A
; 164A(1): 10-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501761
20.
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
PLoS Genet
; 7(4): e1002050, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533187