Results 241 to 250 of about 52,972 (302)

Steroid administration facilitates recovery in severe refractory Bell's palsy patients who did not receive steroids in the acute stage: a retrospective study. [PDF]

Front Neurol
Ding SS, Song KH, Zhang YY, Xu F, Xuan LH, Hong SH.   +5 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Application of magnetic resonance diffusion tensor imaging for the treatment of hemifacial spasm. [PDF]

Am J Transl Res
Guo Y, Dong X, Liu M, Meng F.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Perineural Spread and Base of Skull Involvement in Cutaneous Squamous Cell Carcinoma-A Critical Review from an Endemic Region. [PDF]

Curr Oncol
Lin CY, Ladwa R, Sommerville R.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +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

Tapia syndrome after orthognathic surgery: a case report. [PDF]

Int J Surg Case Rep
Sharifi R, Nomani M, Mousavi R.
europepmc   +1 more source

Cranial nerve neuropathies: a rare manifestation of cat scratch disease. [PDF]

BMC Infect Dis
Yakubovsky M, Kosman A, Kadar L, Paran Y, Grisaru-Soen G, Gadoth A, Yahav D, Ben-Ami R, Strahilevitz J, Zimhony O, Ephros M, Giladi M.   +11 more
europepmc   +1 more source

Bicentric analysis of repeated retrosigmoid approach for recurrent vestibular schwannoma: facial nerve function and risk of second recurrence. [PDF]

J Neurooncol
Wach J, Haddad L, Vychopen M, Arlt F, Güresir E, Rylewicz K, Przepiórka Ł, Kunert P.   +7 more
europepmc   +1 more source