Results 211 to 220 of about 42,556 (266)

Mid-range arc therapy for efficient and RBE-robust proton treatment. [PDF]

Phys Med Biol
Wang Q, Chen M, Zhu Y, Zhao X, Zhang Y, Gu X, Lu W.   +6 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

Cellular and molecular mechanisms of fatty infiltration in paraspinal muscles in spine-specific sarcopenia. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Yu G, Ren X, Guo X, Guo Y, Qi L, Wang L.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Metabolic regulation of synaptic plasticity in anorexia nervosa. [PDF]

Front Synaptic Neurosci
Lagerlöf O, Lu Q, Bhattacharjee M, Arora R, Han L, Pan J, Galizia S, Asellus P, Ekbäck E.   +8 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Relevance of a complete re-resection of contrast enhancing tumor in MGMT promotor non-methylated versus methylated recurrent glioblastomas. [PDF]

Brain Spine
Jankovic D, Thavarajasingam SG, Salih A, Scurtu D, Dauth A, Krenzlin H, Kalasauskas D, Kramer A, Brockmann MA, Sommer C, Leukel P, Stockinger M, Keric N, Ringel F.   +13 more
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Liuwei dihuang decoction attenuates intervertebral disc degeneration by inhibiting TRPA1-Mediated ferroptosis in endplate chondrocytes. [PDF]

Front Cell Dev Biol
Xu R, Yang Y, Xu P, Qin K, Li O, Wu T, Pan Y, Sheng C, Xie Z, Wu M, Wang J, Wang W, Ma T, Jin Z, Jiang D, Xia H, Li Y.   +16 more
europepmc   +1 more source

N-Stearidonoylethanolamine Restores CA1 Synaptic Integrity and Reduces Astrocytic Reactivity After Mild Traumatic Brain Injury. [PDF]

Int J Mol Sci
Egoraeva A, Manzhulo I, Ivashkevich D, Tyrtyshnaia A.   +3 more
europepmc   +1 more source