Results 151 to 160 of about 85,637 (309)

Transient monocular vertical hemifield loss as a rare acute oxaliplatin-induced ophthalmological side effect: a case report and review of the literature. [PDF]

Ther Adv Drug Saf
Regaldo-Saint Blancard L, Pernot S, Fonck M, Palmieri LJ.   +3 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

In front of the ophthalmological hospital 1

, 2017
In front of the ophthalmological hospital run by the Polish Lazarists (Vincentians). People in photograph: Fr. Venceslas Szuniewicz, CM, and Fr.

core   +1 more source

Ophthalmological Abnormalities in Cases with Intracranial Aneurysms: A Retrospective Referral-Based Study. [PDF]

Clin Ophthalmol
Nakano T, Suda K, Nakano E, Tagawa M, Ito M, Kashii S, Miyata M, Nakao S, Yamamoto A, Takada S, Mineharu Y, Arakawa Y, Tsujikawa A.   +12 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Visual outcome in 5-year-old children operated for non-syndromic craniosynostosis. [PDF]

BMJ Open Ophthalmol
Ntoula E, Nowinski D, Holmstrom GE, Larsson E.   +3 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Cutis Verticis Gyrata Across the Diagnostic Spectrum: Two Cases Highlighting Challenges in Clinical Classification. [PDF]

Clin Case Rep
Bishokarma S, Acharya SS, Dhami G.
europepmc   +1 more source

Early ophthalmological tumour signs and diagnostic interval in children with brain tumours

BackgroundChildren with brain tumours often suffer from late diagnosis, impacting cure rates and risk of permanent sequelae. Ophthalmological symptoms are common, and we aimed to investigate the frequency, diagnostic interval, and prognostic value of ...
von Holstein, Sarah Linea, Heegaard, Steffen, Siersma, Volkert, Kjeldsen, Sia, Schmiegelow, Kjeld, Mathiasen, René, Christiansen, Jacob   +6 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source