Results 71 to 80 of about 132,265 (338)

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art

Molecular Cytogenetics, 2019
Head and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage.
Ilda Patrícia Ribeiro, Joana Barbosa de Melo, Isabel Marques Carreira   +2 more
doaj   +1 more source

Liver: Intrahepatic cholangiocarcinoma [PDF]

, 2009
Review on Liver: Intrahepatic cholangiocarcinoma, with data on clinics, and the genes ...
Aishima, S, Enjoji, M
core   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review [PDF]

, 2018
Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
Bhalla, Sanjeev, Ganeshan, Dhakshinamoorthy, Lubner, Meghan G., Menias, Christine O., Pickhardt, Perry J., Ramalingam, Preetha, Sandrasegaran, Kumaresan   +6 more
core   +1 more source

The impact of COVID‐19 pre‐university education on first‐grade medical students. A performance study of students of a Department of Histology

Anatomical Sciences Education, Volume 18, Issue 3, Page 254-263, March 2025.
Abstract The recent coronavirus disease (COVID‐19) forced pre‐university professionals to modify the educational system. This work aimed to determine the effects of pandemic situation on students' access to medical studies by comparing the performance of medical students.
José Manuel García, David Sánchez‐Porras, Miguel Etayo‐Escanilla, Paula Ávila‐Fernández, Olimpia Ortiz‐Arrabal, Miguel‐Ángel Martín‐Piedra, Fernando Campos, Óscar‐Darío García‐García, Jesús Chato‐Astrain, Miguel Alaminos   +9 more
wiley   +1 more source

CILTACABTAGENE AUTOLEUCEL VS STANDARD OF CARE IN LENALIDOMIDE-REFRACTORY MULTIPLE MYELOMA: PHASE 3 CARTITUDE-4 SUBGROUP ANALYSIS BY CYTOGENETIC RISK

Hematology, Transfusion and Cell Therapy
Background: The prognosis for patients (pts) with multiple myeloma (MM) who have high-risk (HR) cytogenetics is poor. In the phase 3 CARTITUDE-4 trial, ciltacabtagene autoleucel (cilta-cel) vs standard of care (SOC) significantly improved progression ...
R Mina, B Dhakal, J San-Miguel, N Lendvai, M Vogel, K Li, D Chen, N Patel, H Einsele, J Martinez-Lopez   +9 more
doaj   +1 more source

Prospective validation of podoplanin expression as a diagnostic biomarker of acute promyelocytic leukemia

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Acute promyelocytic leukemia (APL) is a medical emergency that needs immediate diagnosis and treatment. Podoplanin, a transmembrane glycoprotein that binds CLEC‐2 on platelets, was recently demonstrated to be abnormally expressed in leukemic blasts in APL, as opposed to other forms of AML, in a study using thawed primary cells.
Camilla Maria de Alencar Saraiva, Carla Roberta Peachazepi Moraes, Bruno Kosa Lino Duarte, Gislaine Borba Oliveira, Herton Luiz Alves Sales Filho, Paula de Melo Campos, Sara Teresinha Olalla Saad, Erich Vinicius De Paula   +7 more
wiley   +1 more source

Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features

Haematologica, 2013
In childhood B-cell precursor acute lymphoblastic leukemia, cytogenetics is important in diagnosis and as an indicator of response to therapy, thus playing a key role in risk stratification of patients for treatment.
Claire J. Schwab, Lucy Chilton, Heather Morrison, Lisa Jones, Halima Al-Shehhi, Amy Erhorn, Lisa J. Russell, Anthony V. Moorman, Christine J. Harrison   +8 more
doaj   +1 more source

Monocyte maturation pattern by flow cytometry expression of CD64, CD300e, and CD14 correlates to presence of myeloid neoplasm and helps identify blast equivalents in the setting of monocytic neoplasm

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract CD300e is a marker of mature monocytes in flow cytometry; however, there is limited detailed information on staining patterns in conjunction with other monocyte markers. We evaluated the flow cytometric staining patterns of CD64, CD14, and CD300e in 12 negative and 33 positive peripheral blood specimens and 16 negative and 56 positive bone ...
Jenny Zhang, Jacob Kaplan, Elizabeth Courville   +2 more
wiley   +1 more source