Detalles de la búsqueda
1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35256403
2.
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
3.
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
Genet Med
; 24(8): 1653-1663, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35511137
4.
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Am J Med Genet A
; 188(6): 1836-1847, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35238482
5.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34232366
6.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33442900
7.
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.
Int J Mol Sci
; 22(10)2021 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-34065289
8.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30275510
9.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190611
10.
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.
Children (Basel)
; 11(5)2024 Apr 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38790536
11.
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Genes (Basel)
; 15(1)2024 Jan 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38275611
12.
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines
; 12(5)2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38791074
13.
New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.
Genes (Basel)
; 14(5)2023 05 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37239476
14.
A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
Endocr Metab Immune Disord Drug Targets
; 23(9): 1235-1239, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36847234
15.
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
Genes (Basel)
; 14(1)2023 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672860
16.
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Pediatr Rep
; 14(1): 131-139, 2022 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35324822
17.
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Front Genet
; 13: 924362, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35910214
18.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Clin Epigenetics
; 14(1): 71, 2022 05 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35643636
19.
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.
Viruses
; 14(6)2022 05 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35746657
20.
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Genes (Basel)
; 12(5)2021 05 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34065128