Results 231 to 240 of about 1,830,086 (308)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Minocycline Is Cytoprotective in Human Trabecular Meshwork Cells and Optic Nerve Head Astrocytes by Increasing Expression of XIAP, Survivin, and Bcl-2 [Retraction]. [PDF]

Clin Ophthalmol
europepmc   +1 more source

Association Between Optic Nerve Head Prelaminar Schisis and Visual Field Progression in Glaucoma. [PDF]

Am J Ophthalmol
Soltani G, Nishida T, Moghimi S, Tran E, Yamane M, Girkin C, Zangwill LM, Weinreb RN.   +7 more
europepmc   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Region-Specific Roles of TGF-β2 and Angiotensin II in Fibrotic and Inflammatory Remodeling of the Optic Nerve Head. [PDF]

Cells
Oh SE, Kim JH, Park SE, Park CK, Park HL.   +4 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Independent Effects of Axial Length and Intraocular Pressure on the Highly Myopic Optic Nerve Head. [PDF]

Invest Ophthalmol Vis Sci
Wong MW, Chong C, Sharma S, Phang LC, Lor S, Hoang QV, Girard M, Cheng CY, Schmetterer L, Jonas JB, Yang H, Wang YX, Jeoung JW, Chong RS.   +13 more
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Optic Nerve Head Changes over 15 Years-From the Atropine Treatment Long-Term Assessment Study. [PDF]

Ophthalmol Sci
Eppenberger LS, Cheong EZK, Chung J, Li Y, Toh A, Cheng H, Wong M, Chia A, Wong D, Chong RS, Schmetterer L, Jonas JB, Ang M.   +12 more
europepmc   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source