Detalles de la búsqueda
1.
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.
Genet Med
; 26(1): 101009, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37864479
2.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(2): 255-261, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906464
3.
Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.
J Neurosci
; 35(23): 8866-81, 2015 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26063919
4.
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(11): 912-8, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25741864
5.
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(6): 1267-1270, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31015575
6.
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
Genet Med
; 15(2): 150-2, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23328890
7.
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Front Genet
; 13: 1001154, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36246652
8.
Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.
Int J Neonatal Screen
; 8(1)2022 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35225934
9.
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Mol Genet Metab
; 104(4): 691-4, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21911307
10.
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.
J Pediatr Genet
; 10(1): 35-38, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33552636
11.
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.
Int J Neonatal Screen
; 7(1)2021 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33801060
12.
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Arch Pathol Lab Med
; 145(2): 176-190, 2021 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32886736
13.
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(7): 596, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26133565
14.
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
JAMA Netw Open
; 3(1): e1920356, 2020 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32003821
15.
Response to Rosenberg et al.
Genet Med
; 15(9): 754, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24008259
16.
Identification of EPCAM mutation: clinical use of microarray.
Clin Case Rep
; 5(6): 980-985, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28588851
17.
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
JIMD Rep
; 31: 79-83, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27142047
18.
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.
Cold Spring Harb Mol Case Stud
; 3(5)2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28864461
19.
Posttransplant lymphoproliferative disorder after umbilical cord blood transplantation in children.
Am J Surg Pathol
; 30(3): 328-36, 2006 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-16538052
20.
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
PLoS One
; 8(6): e67052, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23825616