Elizabeth Wohler
Overview
Explore the profile of Elizabeth Wohler including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
40
Citations
382
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Kim S, Wohler E, Gutierrez M, Sadreameli C, Kossoff E, Sobreira N
Am J Med Genet A
. 2024 Nov;
197(3):e63925.
PMID: 39513527
Ring chromosome 17 and 17p13.3 deletion syndrome are phenotypically heterogeneous diseases with similar clinical features. The ring chromosome 17 phenotypic features range from the Miller-Dieker syndrome characterized by deletion of...
2.
Shafique A, Nadeem A, Aslam F, Manzoor H, Noman M, Wohler E, et al.
Sci Rep
. 2024 Jun;
14(1):14331.
PMID: 38906889
Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by...
3.
Jelin A, Sopko N, Sobreira N, Boyadjiev S, Wohler E, Morrill C, et al.
Front Genet
. 2024 Jun;
15:1266210.
PMID: 38903756
Introduction/background: Bladder exstrophy epispadias complex (BEEC) is a rare congenital anomaly of unknown etiology, although, genetic and environmental factors have been associated with its development. Variants in several genes expressed...
4.
Jelin A, Wohler E, Martin R, Di Carlo H, Isaacs W, Ko J, et al.
Am J Med Genet A
. 2023 Dec;
194(4):e63501.
PMID: 38082334
Bladder exstrophy epispadias complex (BEEC) encompasses a spectrum of conditions ranging from mild epispadias to the most severe form: omphalocele-bladder exstrophy-imperforate anus-spinal defects (OEIS). BEEC involves abnormalities related to anatomical...
5.
de Cassia Collaco R, Lammens M, Blevins C, Rodgers K, Gurau A, Yamauchi S, et al.
Clin Auton Res
. 2023 Dec;
34(1):191-201.
PMID: 38064009
Purpose: Guanfacine is an α-adrenergic receptor agonist, FDA-approved to treat attention-deficit hyperactivity disorder and high blood pressure, typically as an extended-release formulation up to 7 mg/day. In our dysautonomia clinic,...
6.
Espolaor J, Perrone E, Silva M, Sobreira N, Wohler E, Virmond L
Clin Dysmorphol
. 2023 Sep;
32(4):172-174.
PMID: 37678402
No abstract available.
7.
Rebello D, Wohler E, Erfani V, Li G, Aguilera A, Santiago-Cornier A, et al.
Hum Mol Genet
. 2023 Jul;
32(19):2913-2928.
PMID: 37462524
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are associated with significant health problems including congenital scoliosis (CS) and recurrent organ system malformation syndromes such as VACTERL...
8.
Sharif K, Tierney W, Davis R, Wohler E, Sobreira N, Hillel A, et al.
Laryngoscope
. 2023 Apr;
133(11):3049-3056.
PMID: 37102306
Objectives: Recent translational scientific efforts in subglottic stenosis (SGS) support a disease model where epithelial alterations facilitate microbiome displacement, dysregulated immune activation, and localized fibrosis. Yet despite recent advances, the...
9.
Migliavacca M, Fock R, Almeida N, Cavalcanti T, Villela D, Perez A, et al.
Rev Paul Pediatr
. 2023 Apr;
41:e2022057.
PMID: 37042943
Objective: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused...
10.
Yousaf K, Naz S, Mushtaq A, Wohler E, Sobreira N, Ho B, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833236
Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family...