Detalhe da pesquisa
1.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196516
2.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Genes Chromosomes Cancer
; 61(1): 10-21, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427956
3.
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Am J Med Genet A
; 188(2): 692-707, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665525
4.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
5.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
6.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
7.
The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights.
Pediatr Dermatol
; 38(3): 637-639, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715178
8.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
J Hum Genet
; 65(10): 855-864, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467589
9.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 40(9): 1346-1363, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209962
10.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300384
11.
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
J Med Genet
; 54(12): 830-835, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074562
12.
Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles.
BMC Pediatr
; 18(1): 333, 2018 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30340473
13.
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
Am J Med Genet B Neuropsychiatr Genet
; 177(6): 557-562, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30105822
14.
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Hum Mutat
; 38(2): 216-225, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864847
15.
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".
Am J Med Genet A
; 188(1): 382-383, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562059
16.
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
Int J Mol Sci
; 18(10)2017 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961165
17.
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Am J Med Genet A
; 170(9): 2301-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27354166
18.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Am J Med Genet A
; 170A(1): 162-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333654
19.
A Family with γ-Thalassemia and High Hb A2 Levels.
Hemoglobin
; 40(3): 187-90, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117568
20.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 41(6): 1183, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400065