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H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; Undiagnosed Diseases Network; Bademci G, Tekin M. Borja N, et al. Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987712
The variant met criteria for a likely pathogenic classification and is one of the seven known disease-causing missense variants in H4C5. A comparison of our proband's findings to the initial description of the H4-associated neurodevelopmental syndrome demonstrates that his …
The variant met criteria for a likely pathogenic classification and is one of the seven known disease-causing missense variants in H4C5. A c …
Single molecule laser spectroscopy.
Atta D, Okasha A. Atta D, et al. Spectrochim Acta A Mol Biomol Spectrosc. 2015 Jan 25;135:1173-9. doi: 10.1016/j.saa.2014.07.085. Epub 2014 Aug 8. Spectrochim Acta A Mol Biomol Spectrosc. 2015. PMID: 25156641 Review.
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I, Lang SH, Rodier MJ, Bivona SA; Undiagnosed Diseases Network; Morales AA, Zuchner S, Bademci G, Tekin M. Forghani I, et al. Am J Med Genet A. 2024 Jun;194(6):e63556. doi: 10.1002/ajmg.a.63556. Epub 2024 Feb 13. Am J Med Genet A. 2024. PMID: 38348595
Considering the absence of other molecular explanations, we extrapolated that EFEMP1 could be the cause of the patient's phenotypes. Furthermore, nonsense-mediated decay was demonstrated for the mutant allele as the principal mechanism for decreased levels of EFEMP1 mRNA. …
Considering the absence of other molecular explanations, we extrapolated that EFEMP1 could be the cause of the patient's phenotypes. …
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Wang C, et al. Am J Med Genet A. 2022 May;188(5):1355-1367. doi: 10.1002/ajmg.a.62644. Epub 2022 Jan 18. Am J Med Genet A. 2022. PMID: 35040250 Free PMC article.
Dorsal Root Ganglion Stimulation to Treat Chronic Shoulder Pain: A Case Report.
Chapman KB, Tupper C, Yousef T, van Helmond N. Chapman KB, et al. A A Pract. 2023 Nov 15;17(11):e01718. doi: 10.1213/XAA.0000000000001718. eCollection 2023 Nov 1. A A Pract. 2023. PMID: 37966349
A 67-year-old man presented with severe 9 of 10 intractable pain of the left shoulder joint after arthroplasty and revision surgeries, with associated weakness, atrophy, and limited range of motion in all directions. Dorsal root ganglion stimulation (DRG-S) at the left C4, …
A 67-year-old man presented with severe 9 of 10 intractable pain of the left shoulder joint after arthroplasty and revision surgeries, with …
Lumbar Dorsal Root Ganglion Stimulation Lead Placement Using an Outside-In Technique in 4 Patients With Failed Back Surgery Syndrome: A Case Series.
Chapman KB, Nagrani S, Patel KV, Yousef T, van Helmond N. Chapman KB, et al. A A Pract. 2020 Aug;14(10):e01300. doi: 10.1213/XAA.0000000000001300. A A Pract. 2020. PMID: 32845109
Dorsal root ganglion stimulation (DRG-S) has shown promise as a treatment for low back pain. The traditional anterograde placement of DRG-S leads can be challenging in patients with anatomical changes from prior back surgery. We describe an "outside-in" placement te …
Dorsal root ganglion stimulation (DRG-S) has shown promise as a treatment for low back pain. The traditional anterograde placement of …
27 results