Results 151 to 160 of about 182,408 (279)

On the replicability of diffusion weighted MRI-based brain-behavior models. [PDF]

Commun Biol
Kotikalapudi R, Kincses B, Gallitto G, Englert R, Hoffschlag K, Li J, Büchel C, Bingel U, Spisak T.   +8 more
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Diffusion-Weighted MRI in Sinonasal Tumors: Diagnostic Insights From a Tertiary Center. [PDF]

Cureus
Mallineni K, Jayasankaran S.
europepmc   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Author Correction: On the replicability of diffusion weighted MRI-based brain-behavior models. [PDF]

Commun Biol
Kotikalapudi R, Kincses B, Gallitto G, Englert R, Hoffschlag K, Li J, Büchel C, Bingel U, Spisak T.   +8 more
europepmc   +1 more source

Differentiating lymph node status in malignant melanoma: the role of apparent diffusion coefficient ratio in diffusion-weighted MRI - a prospective diagnostic study. [PDF]

BMC Med Imaging
Kohnen MPE, Mühler M, Arnold A, Lutze S, Busch CJ, Ribback S, Peters K, Kromrey ML, Kirsch M, Gamain J, Mankertz F, Malsch C.   +11 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

ESR Essentials: diffusion-weighted MRI-practice recommendations by the European Society for Magnetic Resonance in Medicine and Biology. [PDF]

Eur Radiol
Palombo M, Bodini B, Grussu F, Le Bihan D, Nilsson M, Perez-Lopez R, Oei EHG, Schoots IG, Smits M, Jelescu IO.   +9 more
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Can Whole-Body Diffusion-weighted MRI Become a One-Stop-Shop Imaging Modality in Pediatric Sarcoma Imaging? [PDF]

Radiol Imaging Cancer
van Rijn RR, Nievelstein RAJ.
europepmc   +1 more source