Detalhe da pesquisa
1.
A soil fungus confers plant resistance against a phytophagous insect by disrupting the symbiotic role of its gut microbiota.
Proc Natl Acad Sci U S A
; 120(10): e2216922120, 2023 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36848561
2.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
3.
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Am J Med Genet A
; 188(3): 883-895, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897976
4.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
5.
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Hum Mutat
; 42(5): 506-519, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565183
6.
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
Am J Med Genet A
; 185(7): 2003-2011, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811726
7.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
8.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
9.
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Am J Med Genet A
; 182(10): 2372-2376, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744776
10.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Am J Med Genet A
; 182(8): 1977-1984, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573066
11.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
12.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
13.
Expanding the clinical spectrum associated with PACS2 mutations.
Clin Genet
; 95(4): 525-531, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684285
14.
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Am J Med Genet A
; 179(10): 2083-2090, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368652
15.
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Cytogenet Genome Res
; 156(2): 87-94, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372694
16.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244530
17.
Cardiovascular disease in Down syndrome.
Curr Opin Pediatr
; 30(5): 616-622, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30015688
18.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
19.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Cytogenet Genome Res
; 151(4): 179-185, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478456
20.
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
Am J Med Genet A
; 173(7): 1943-1946, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28489314