Results 221 to 230 of about 114,464 (294)

What are the top 10 global research priorities for perianal Crohn's disease? The Global Perianal Crohn's Disease Priority Setting Partnership. [PDF]

J Crohns Colitis
Pelly T, Anand E, Gower J, Mannick S, Hough T, Markham S, Sebastian S, Buskens C, Mccurdy JD, Deepak P, Radmard AR, Stoker J, Lung P, Kotze PG, Younge L, Robinson D, Joshi S, Shakweh E, Hanna L, Singh H, Khan Y, Nightingale K, Powell N, Tozer P, Hart A, PSP Collaborators.   +25 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

From Promise to Practice: Real-World Readiness of Artificial Intelligence for Cardiac Magnetic Resonance Imaging. [PDF]

Korean J Radiol
Kang EJ.
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Sex differences in Alzheimer's disease: a systematic review of two decades of neuroimaging research. [PDF]

Br J Radiol
Massoumzadeh P, Tiemann Powles S, Naghashzadeh M, Rizzo J, Hu J, Yaeger L, Alkelani H, Wang Q, Chen G, Dolatshahi M, Joseph-Mathurin N, Benzinger TLS.   +11 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +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

Artificial Intelligence and Radiomics in Primary Liver Cancer Imaging: A Bibliometric and Visualized Analysis. [PDF]

J Hepatocell Carcinoma
Fu R, Gao C, Lou X, Han Z, He Y, Zheng C, Yu Z, Chang H.   +7 more
europepmc   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

A robust vision language model for molecular status prediction and radiology report generation in adult-type diffuse gliomas. [PDF]

NPJ Digit Med
Park YW, Kang M, Ryu H, Han K, Sim Y, Park JE, Chang JH, Kim SH, Lee SK, Park SH, Ahn SS.   +10 more
europepmc   +1 more source