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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
- Published in:
- Clinical Obesity, 2024, v. 14, n. 4, p. 1, doi. 10.1111/cob.12661
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- Article
Clinical phenotypes of adults with monogenic and syndromic genetic obesity.
- Published in:
- Obesity (19307381), 2024, v. 32, n. 7, p. 1257, doi. 10.1002/oby.24047
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- Article
Mirror Hand Movements Caused by a Deletion of the DCC Gene.
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- JAMA Neurology, 2024, v. 81, n. 2, p. 187, doi. 10.1001/jamaneurol.2023.4563
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- Article
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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- Article
GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly.
- Published in:
- Cardiogenetics, 2023, v. 13, n. 3, p. 106, doi. 10.3390/cardiogenetics13030010
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- Article
The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2023, v. 16, n. 5, p. 514, doi. 10.1159/000531529
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- Article
Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1476, doi. 10.1002/ajmg.a.63154
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- Article
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.
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- Birth Defects Research, 2023, v. 115, n. 6, p. 595, doi. 10.1002/bdr2.2153
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- Article
Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.862817
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- Publication type:
- Article
Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients.
- Published in:
- Obesity Surgery, 2022, v. 32, n. 3, p. 837, doi. 10.1007/s11695-021-05869-x
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- Article
Personalized medicine for rare neurogenetic disorders: can we make it happen?
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006200
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- Publication type:
- Article
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.775172
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- Article
Effects of glucagon‐like peptide‐1 analogue treatment in genetic obesity: A case series.
- Published in:
- Clinical Obesity, 2021, v. 11, n. 6, p. 1, doi. 10.1111/cob.12481
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- Publication type:
- Article
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.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 875, doi. 10.3390/genes12060875
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- Article
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
- Published in:
- 2020
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- Correction Notice
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1314, doi. 10.3390/biom10091314
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- Publication type:
- Article
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
- Published in:
- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0232990
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- Publication type:
- Article
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
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- European Journal of Endocrinology, 2020, v. 182, n. 1, p. 47, doi. 10.1530/EJE-19-0678
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- Article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
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- 2019
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- Publication type:
- journal article
Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2019, v. 12, n. 4, p. 369, doi. 10.1159/000499978
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- Publication type:
- Article
Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.632
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- Article
A comprehensive diagnostic approach to detect underlying causes of obesity in adults.
- Published in:
- Obesity Reviews, 2019, v. 20, n. 6, p. 795, doi. 10.1111/obr.12836
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- Publication type:
- Article
The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2456, doi. 10.1002/ajmg.a.40486
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- Publication type:
- Article
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome)
- Published in:
- Hypertension Research, 2018, v. 41, n. 11, p. 981, doi. 10.1038/s41440-018-0094-5
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- Publication type:
- Article
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
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- Article
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
- Published in:
- 2017
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- Publication type:
- journal article
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2431, doi. 10.1002/ajmg.a.37818
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- Publication type:
- Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
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- Publication type:
- Article
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
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- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
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- Article
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/2861653
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- Article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
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- Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
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- Publication type:
- Article
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0131417
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- Article
Further confirmation of the MED13L haploinsufficiency syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
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- Publication type:
- Article
Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 29, doi. 10.1002/ajmg.a.36184
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- Article
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 194, doi. 10.1002/ajmg.a.36202
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- Publication type:
- Article
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3012, doi. 10.1002/ajmg.a.36119
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- Article
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
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- Article
Ablepharon-Macrostomia syndrome-Extension of the phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3060, doi. 10.1002/ajmg.a.34287
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- Article
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1192, doi. 10.1002/ajmg.a.33986
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- Publication type:
- Article
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 17, p. 3257, doi. 10.1093/hmg/ddp263
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- Article
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414
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- Article