Detalhe da pesquisa
1.
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Neuropediatrics
; 2023 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37343586
2.
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.
Cytogenet Genome Res
; 160(2): 80-84, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32018271
3.
A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
Neurol Sci
; 2024 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38483676
4.
The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.
Clin Anat
; 31(3): 380-386, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29226593
5.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21779178
6.
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.
Seizure
; 116: 151-155, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36710240
7.
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.
Diagnostics (Basel)
; 13(13)2023 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37443678
8.
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Am J Hum Genet
; 85(3): 394-400, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19716111
9.
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.
Eur J Med Genet
; 65(11): 104596, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36064004
10.
Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study.
PLoS One
; 16(6): e0252864, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34106976
11.
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
Brain Sci
; 12(1)2021 Dec 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35053762
12.
Increased fracture rate in children and adolescents with Marfan syndrome.
Bone
; 135: 115333, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32222606
13.
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.
PLoS One
; 14(9): e0222506, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31536524
14.
Unreliable Estimation of Aortic Pulse Wave Velocity Provided by the Mobil-O-Graph Algorithm-Based System in Marfan Syndrome.
J Am Heart Assoc
; 8(9): e04028, 2019 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31020905
15.
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
Eur J Hum Genet
; 16(12): 1443-9, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18648397
16.
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
Front Genet
; 9: 600, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30555519
17.
Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.
J Hypertens
; 36(1): 77-84, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29210860
18.
Subtelomeric trisomy 21q: a new benign chromosomal variant.
Eur J Med Genet
; 50(1): 54-9, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17055792
19.
Impaired Central Pulsatile Hemodynamics in Children and Adolescents With Marfan Syndrome.
J Am Heart Assoc
; 6(11)2017 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29114001
20.
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.
J Child Neurol
; 32(1): 60-71, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27683483