Results 211 to 220 of about 8,980,141 (293)

Correction: Clinical Implications of Mounjaro (Tirzepatide) for Breast Cancer Detection and Management: A Narrative Review. [PDF]

Cureus
Mady R, Tafazal H, Soliman H, Ramadan A, Hajaj M.   +4 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Correction to: Deep learning-based motion correction: cardiac motion artifact and image quality improvements on chest CT. [PDF]

Jpn J Radiol
Ozawa Y, Takenaka D, Nomura M, Ueda T, Kimata H, Ito Y, Fujii K, Akino N, Yoshikawa T, Endo M, Ohno Y.   +10 more
europepmc   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Correction: Primary malignant peripheral nerve sheath tumor of the liver: a case report and literature review. [PDF]

Front Oncol
Hu X, Zhou L, Tian Y, Li X, Lu T.
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Response to "Refining CT Use Before Active Surveillance in Papillary Thyroid Microcarcinoma". [PDF]

Korean J Radiol
Jeon YH, Lee JY.
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

Corrigendum to "4D Flow cardiovascular magnetic resonance consensus statement: 2023 update" [Journal of Cardiovascular Magnetic Resonance 25 (2023) 40]. [PDF]

J Cardiovasc Magn Reson
Bissell MM, Raimondi F, Ali LA, Allen BD, Barker AJ, Bolger A, Burris N, Carlhäll CJ, Collins JD, Ebbers T, Francois CJ, Frydrychowicz A, Garg P, Geiger J, Ha H, Hennemuth A, Hope MD, Hsiao A, Johnson K, Kozerke S, Ma LE, Markl M, Martins D, Messina M, Oechtering TH, van Ooij P, Rigsby C, Rodriguez-Palomares J, Roest AAW, Roldán-Alzate A, Schnell S, Sotelo J, Stuber M, Syed AB, Töger J, van der Geest R, Westenberg J, Zhong L, Zhong Y, Wieben O, Dyverfeldt P.   +40 more
europepmc   +1 more source

Noninvasive Diagnosis of Splenosis Using Tc‐99m Heat‐Denatured Red Blood Cell Scintigraphy

American Journal of Hematology, EarlyView.
Natacha Dewarrat, Katharina Auf der Springe, Francesco Grandoni, Rami Hajri, Mathilde Gavillet   +4 more
wiley   +1 more source