Detalles de la búsqueda
1.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38126281
2.
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.
BMC Pediatr
; 24(1): 271, 2024 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38664677
3.
Body weight changes and bipolar disorder: a molecular pathway analysis.
Pharmacogenet Genomics
; 32(9): 308-320, 2022 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36305391
4.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33988253
5.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32293671
6.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci
; 22(3)2021 Jan 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33530447
7.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906221
8.
Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion.
Pediatr Surg Int
; 34(7): 807-812, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29785651
9.
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al.
Genet Med
; 23(2): 421-422, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33012787
10.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Am J Med Genet A
; 170A(1): 162-9, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26333654
11.
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
Ann Hum Genet
; 79(5): 341-349, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26096904
12.
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Am J Med Genet A
; 167A(9): 2042-51, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25940952
13.
Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype.
Allergy Asthma Proc
; 36(1): 74-81, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25562560
14.
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
Am J Med Genet A
; 164A(7): 1734-43, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24807585
15.
Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide.
J Pediatr Pharmacol Ther
; 28(7): 662-666, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38025154
16.
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.
Genes (Basel)
; 14(2)2023 02 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36833411
17.
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.
BMC Med Genomics
; 16(1): 315, 2023 12 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38049856
18.
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Eur J Hum Genet
; 31(3): 345-352, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36564538
19.
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.
Epilepsia
; 53(6): e102-5, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22352460
20.
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.
Ren Fail
; 34(4): 495-8, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22260509