Results 231 to 240 of about 33,726 (347)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

General Anesthesia Without Nerve Block Is Non-Inferior to General Anesthesia with Nerve Block for Postoperative Pain Control in Antegrade Femoral Limb Lengthening: A Retrospective Study. [PDF]

J Clin Med
Al Ramlawi A, Chen Z, Assayag M, Herzenberg JE, McClure PK.   +4 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Local Chemical Gradients in a Mammalian Cortex Measured In Vivo With a Silicon Nanodialysis Mass Spectrometry Platform

Angewandte Chemie, EarlyView.
Fluorescence image of the coronal slice of mouse brain where multiple neurochemicals have been measured in vivo with a nanodialysis platform coupled to CE‐MS to reveal strong millimeter‐scale spatial chemical gradients. Formation and maintenance of such local chemical compartments in the otherwise diffusion‐homogeneous cortex indicates strong ...
Weihua Shi, Keyin Li, Yu Ding, Alex G. Armstrong, Jonathan V. Sweedler, Yurii Vlasov   +5 more
wiley   +2 more sources

Stature seekers: Cosmetic limb lengthening in medical tourism a case report. [PDF]

JPRAS Open
O'Halloran A, Walsh A, Harrington P.
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

The true lengthening of limbs. S.L. Tregubov (Orth. and Traum., 1927, No. 2-3)

, 1928
N. Kiptenko
openalex   +2 more sources

Limb lengthening in children with Russell–Silver syndrome: A comparison to other etiologies [PDF]

, 2013
Vladimir Goldman, Thomas H. McCoy, Madeleine D. Harbison, Austin T. Fragomen, S. Robert Rozbruch   +4 more
openalex   +1 more source

Use of Hexapod External Fixation in Limb Lengthening in Patients with Disproportionate Short Stature: A Systematic Review of the Last 20 Years. [PDF]

J Clin Med
Testa G, Marchetti M, Sapienza M, Ilardo M, Mangano S, Condorelli G, Pavone V.   +6 more
europepmc   +1 more source

Integrated Limb Lengthening Is Superior to Classical Limb Lengthening: A Systematic Review and Meta-analysis of the Literature. [PDF]

J Am Acad Orthop Surg Glob Res Rev, 2020
Sheridan GA, Fragomen AT, Rozbruch SR.
europepmc   +1 more source