Results 161 to 170 of about 172,628 (251)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Eye Movement Patterns as Robust Biomarkers for Schizophrenia Identification Using a Novel Data Transformation Approach. [PDF]

J Eye Mov Res
Huang L, Li S, Liu Z, Zhang D, Xu L, Zhang T, Wang J.   +6 more
europepmc   +1 more source

Ocular manifestation of rheumatoid arthritis-different forms and frequency. [PDF]

Bosn J Basic Med Sci, 2010
Zlatanović G, Veselinović D, Cekić S, Zivković M, Dorđević-Jocić J, Zlatanović M.   +5 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort. [PDF]

Front Genet
Sun H, Shi J, Wang J, Yang S, Liu X, Jin P, Zheng Z.   +6 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Case Report: Cytokine storm syndrome causing retinal inflammatory factor storm. [PDF]

Front Immunol
Liu N, Bai J, Zhai G, Wang S.
europepmc   +1 more source

Abnormal Congenital Pigmentation of One Eye [PDF]

Proceedings of the Royal Society of Medicine, 1910
openaire   +2 more sources

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Atypical retrobulbar optic neuropathy after semaglutide escalation. [PDF]

JCEM Case Rep
Channabasappa S, Gupta RD, Chandran V, Prasad S.   +3 more
europepmc   +1 more source