Results 141 to 150 of about 18,587 (264)

Expanding the Phenotype: Myoclonus-Dystonia as a Novel Manifestation of 47,XXX Syndrome. [PDF]

J Mov Disord
Lalitha LP, Vijayaraghavan A, Koshy KG, Sachithanandan S, Puthenveedu DK, Krishnan S.   +5 more
europepmc   +1 more source

The Brazilian Alagille syndrome study: New insights from a multicenter national cohort

JPGN Reports, EarlyView.
Abstract Objectives To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data.
Elisa Carvalho, Gilda Porta, Irene Kazue Miura, Cristina Helena Targa Ferreira, Luciana Rodrigues Silva, Natascha Silva Sandy, Eleonora Druve Tavares Fagundes, Eliene Oliveira, Aline Falleiros Freitas, Adriana Maria Alves de Tommaso, Regina Sawamura, Melina Utz Melere, Sandra Maria Goncalves Vieira, Renata Belém Pessoa de Melo Seixas, Isadora de Carvalho Trevizoli, Alexandre Rodrigues Ferreira, Adriana Porta Miche Hirschfeld, Renata Pereira Sustovich Pugliese, Cibele Dantas Ferreira Marques, Maria Angela Bellomo Brandão, Raquel Borges Pinto, Leticia Helena Caldas Lopes, Jussara Melo de Cerqueira Maia, Ana Cristina Vieira de Melo, Carolina Sores Silva, Luiza Salgado Nader, Maria Tereza Guiotti, Roberta Vacari Alcântara, Leonardo Resende, Bruno Pereira Ribeiro Rocha, Nilza Maria Medeiros Perin, Adriana Teixeira Rodrigues, Vera Lúcia Baggio Danesi, Gabriel Hessel, Themis Reverbel Silveira   +34 more
wiley   +1 more source

Metastasis-related genomic aberrations and evolutionary trajectory in uveal melanoma. [PDF]

Exp Mol Med
Nam CH, Kim YJ, Youk J, Park HS, Ju YS, Lee CS.   +5 more
europepmc   +1 more source

Sex chromosomal aberration and their modes of presentation.

Indian pediatrics, 1983
M A, Phadke, A S, Joshi, A S, Limaye, L M, Hiremath, S L, Kate, V A, Khedkar, A G, Verma   +6 more
openaire   +1 more source

Ewing's Sarcoma in Adults: A Predictive Nomogram and Survival Analysis of a Cohort of 937 Patients

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background Ewing sarcoma is a rare malignancy of bone and soft tissue that most commonly affects children, adolescents, and young adults. Although multimodal treatment has improved survival in localised disease, outcomes remain poorer in adults, particularly in those with metastatic disease, larger tumours, or anatomically complex primary ...
Jonathan Gibson, Ben Thompson, Katie Williams, Chuck Lam, Shashank Chapala, Morgan Jones, Rajesh Botchu   +6 more
wiley   +1 more source

Real-World Diagnostic Yield and Longitudinal Dynamics of Fluorescence In Situ Hybridization in Hematologic Malignancies: A Five-Year Retrospective Analysis of 1357 Patient Samples. [PDF]

Genes (Basel)
Fumo R, Scala K, Gaeta S, D'Ardia A, Infante T, Ciancia G, Caputo A, Rosati A, Serio B, D'Antonio A, Zeppa P, Chetta M.   +11 more
europepmc   +1 more source

Factors Associated With Bilateral Involvement in Non‐Infectious Labyrinthitis: A Case–Control Study

The Laryngoscope, EarlyView.
Non‐infectious labyrinthitis may progress from unilateral to bilateral inner‐ear involvement, resulting in greater functional impairment. In this retrospective case–control study of 50 patients, younger age, female sex, and the presence of systemic disease were associated with bilateral involvement. These exploratory findings may help identify patients
Douglas Henderson, Blanca Amador Borrero, Aurélien Cadix, Karine Champion, Damien Sene, Philippe Herman, Charlotte Hautefort, Alain Londero, Michael Eliezer, Cassandre Djian   +9 more
wiley   +1 more source

Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing. [PDF]

Front Genet
Huang N, Xu Y, Ding S, Pan L, Zhou P, Zou Y, Feng C, Huang S, Liu Y, Yang B, Yuan H.   +10 more
europepmc   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

Genomic Instability and Clonal Hematopoiesis in the Deep-Space Environment: The Role of Sex-Chromosome Asymmetry and High-LET Radiation. [PDF]

Curr Stem Cell Rep
Zakharyan R, Stepanyan A, Minasyan A, Davitavyan S, Lazaryan G, Hakobyan S, Brojakowska A, Bisserier M, Sahoo S, Zhang S, Garikipati VNS, Khlgatian MK, Arakelyan A, Goukassian DA.   +13 more
europepmc   +1 more source