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.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
3.
Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population.
J Pediatr
; 262: 113619, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473986
4.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
5.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
6.
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
N Engl J Med
; 387(3): 285, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857673
7.
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Curr Diab Rep
; 20(9): 44, 2020 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32729070
8.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
J Med Genet
; 55(9): 578-586, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970488
9.
The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
Am J Med Genet A
; 176(11): 2456-2459, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238631
10.
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605127
11.
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Clin Obes
; : e12661, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38596856
12.
IMPROVE 2022 International Meeting on Pathway-Related Obesity: Vision of Excellence.
Clin Obes
; 14(3): e12659, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602039
13.
The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder.
Obes Facts
; 16(5): 514-518, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393902
14.
Impact of the COVID-19 Pandemic and Related Lockdown Measures on Lifestyle Behaviors and Well-Being in Children and Adolescents with Severe Obesity.
Obes Facts
; 15(2): 186-196, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34743080
15.
Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.
J Clin Endocrinol Metab
; 107(9): e3699-e3704, 2022 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737586
16.
Effects of glucagon-like peptide-1 analogue treatment in genetic obesity: A case series.
Clin Obes
; 11(6): e12481, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291582
17.
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Genes (Basel)
; 12(6)2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34200226
18.
Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome.
Eur J Hum Genet
; 28(9): 1196-1204, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415274
19.
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Eur J Endocrinol
; 182(1): 47-56, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658438
20.
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.
Eur J Hum Genet
; 28(7): 943-946, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144365