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1.
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
J Hum Genet;
69(1): 53-58, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37697026
2.
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.
J Hum Genet;
2024 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38448605
3.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet;
142(6): 785-808, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37079061
4.
Placing joint hypermobility in context: traits, disorders and syndromes.
Br Med Bull;
147(1): 90-107, 2023 09 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37350130
5.
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
Pediatr Res;
93(5): 1208-1215, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35953512
6.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Genet Med;
24(2): 439-453, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906501
7.
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clin Genet;
102(1): 56-60, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35246835
8.
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Clin Genet;
99(4): 540-546, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33372278
9.
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Am J Med Genet A;
185(3): 955-965, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33369135
10.
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
Am J Med Genet A;
185(7): 2160-2163, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33844462
11.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet;
97(3): 396-406, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794058
12.
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Hum Mutat;
40(10): 1886-1898, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31250519
13.
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.
Rheumatology (Oxford);
58(10): 1722-1730, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30783660
14.
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
Am J Med Genet A;
179(5): 846-851, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30821104
15.
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
Am J Med Genet A;
179(1): 104-112, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30565850
16.
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet;
180(1): 25-34, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30471081
17.
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder.
Am J Med Genet B Neuropsychiatr Genet;
177(6): 546-556, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30070022
18.
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects.
Cell Physiol Biochem;
44(4): 1559-1577, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29197877
19.
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet A;
173(4): 914-929, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28266107
20.
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Am J Med Genet A;
173(1): 169-176, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27739212