Detalhe da pesquisa
1.
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
Am J Med Genet A
; : e63614, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562108
2.
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
J Med Genet
; 60(4): 359-367, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113987
3.
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Hum Genet
; 142(10): 1451-1460, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37615740
4.
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
J Hum Genet
; 68(2): 87-90, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224263
5.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879640
6.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
7.
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.
J Hum Genet
; 67(6): 363-368, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027654
8.
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Am J Med Genet A
; 188(2): 446-453, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652060
9.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
10.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
11.
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.
J Hum Genet
; 66(5): 491-498, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33130828
12.
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Am J Med Genet A
; 185(4): 1182-1186, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381903
13.
Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.
Am J Med Genet A
; 185(1): 282-285, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084202
14.
R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Am J Med Genet A
; 185(6): 1776-1786, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750005
15.
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
Hum Genet
; 139(11): 1417-1427, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488466
16.
Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases.
Cytogenet Genome Res
; 160(3): 118-123, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248198
17.
Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study.
Exp Brain Res
; 238(12): 2887-2895, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057869
18.
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Hum Genet
; 138(1): 21-35, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368668
19.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
20.
SATB2-associated syndrome in patients from Japan: Linguistic profiles.
Am J Med Genet A
; 179(6): 896-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848049