Detalhe da pesquisa
1.
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Mol Psychiatry
; 28(4): 1527-1544, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717740
2.
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
Am J Med Genet A
; 194(2): 383-388, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850521
3.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
4.
A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Am J Med Genet A
; 188(3): 900-906, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34787370
5.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Am J Med Genet A
; 185(12): 3740-3753, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331327
6.
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Endocrine
; 84(2): 345-349, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400880
7.
Predictors of surgical complications in boys with hypospadias: data from an internationa registry.
World J Pediatr Surg
; 6(4): e000599, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860275
8.
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.
Clin Dysmorphol
; 28(3): 114-119, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30921090
9.
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Eur J Med Genet
; 62(1): 27-34, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29698805
10.
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.
Sex Dev
; 10(3): 130-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27598577
11.
Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.
Clin Dysmorphol
; 26(4): 238-242, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574861