Detalhe da pesquisa
1.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
2.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
3.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
4.
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Haemophilia
; 25(1): 127-135, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30431218
5.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637980
6.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
7.
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
J Med Genet
; 53(8): 523-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075013
8.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
9.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23023959
10.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Elife
; 112022 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250618
11.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
J Clin Endocrinol Metab
; 106(2): 539-553, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141165
12.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679813
13.
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
Nat Genet
; 48(8): 877-87, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27399968
14.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Eur J Hum Genet
; 23(6): 803-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205402
15.
Meier-Gorlin syndrome.
Orphanet J Rare Dis
; 10: 114, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26381604
16.
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
Eur J Hum Genet
; 22(6): 844-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24193349
17.
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Eur J Hum Genet
; 20(6): 598-606, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22333897