Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549593
3.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet
; 55(7): 497-504, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574422
4.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
5.
Behavioral and psychological features in girls and women with triple-X syndrome.
Am J Med Genet A
; 176(11): 2284-2291, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30070765
6.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
7.
Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.
Klin Padiatr
; 233(5): 252-253, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102701
8.
Congenital CLN disease in two siblings.
Wien Med Wochenschr
; 165(9-10): 210-3, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059544
9.
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
Am J Med Genet A
; 164A(3): 620-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357125
10.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Am J Hum Genet
; 86(2): 185-95, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159109
11.
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Pediatr Neurol
; 149: 84-92, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37820543
12.
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
J Pediatr
; 161(5): 933-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22683032
13.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5093, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900662
14.
Phenotypic spectrum associated with CASK loss-of-function mutations.
J Med Genet
; 48(11): 741-51, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954287
15.
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
Am J Med Genet A
; 155A(11): 2771-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21932316
16.
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
Am J Med Genet A
; 161A(3): 626-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401300
17.
Dravet syndrome: a new causative SCN1A mutation?
Clin Case Rep
; 5(5): 613-615, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28469861
18.
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Mol Genet Genomic Med
; 5(6): 668-677, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178649
19.
47 patients with FLNA associated periventricular nodular heterotopia.
Orphanet J Rare Dis
; 10: 134, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471271
20.
Next-generation sequencing in X-linked intellectual disability.
Eur J Hum Genet
; 23(11): 1513-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649377