Detalhe da pesquisa
1.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet
; 60(6): 620-626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368868
2.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
3.
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat
; 41(10): 1738-1744, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643838
4.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
BMC Med Genet
; 21(1): 96, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381069
5.
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med
; 19(8): 900-908, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151491
6.
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.
Am J Med Genet A
; 167A(8): 1890-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846056
7.
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
Am J Med Genet A
; 164A(7): 1622-6, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24678003
8.
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.
Am J Med Genet A
; 161A(5): 1137-42, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463539
9.
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
Eur J Hum Genet
; 25(8): 946-951, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28513610
10.
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology
; 86(10): 954-62, 2016 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865513
11.
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Mol Cytogenet
; 8: 57, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26236398
12.
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
Eur J Med Genet
; 57(9): 513-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24911659
13.
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.
Eur J Med Genet
; 56(7): 361-4, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664928
14.
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Orphanet J Rare Dis
; 8: 3, 2013 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23294540
15.
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.
Eur J Med Genet
; 55(12): 715-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22975012
16.
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
Eur J Med Genet
; 55(12): 695-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22986108
17.
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
Eur J Med Genet
; 53(4): 221-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20382277