Results 231 to 240 of about 125,321 (287)

The Changing Landscape of Maintenance Therapy in Newly Diagnosed Multiple Myeloma: A Systematic Review With Network Meta‐Analysis of the European Myeloma Network (EMN)

American Journal of Hematology, EarlyView.
Our meta‐analysis showed significant improvement of PFS with lenalidomide, proteasome inhibitors, and CD38‐based therapies. A significant OS benefit was noted only with lenalidomide in transplant‐eligible (TE) patients, while CD38‐directed therapy showed a trend toward improved OS.
Heinz Ludwig, Evangelos Terpos, Francesca Gay, Niels W. C. J. van de Donk, Sarah Bernhard, Monika Engelhardt, Gordon Cook, Fredrik Schjesvold, Hermann Einsele, Graham Jackson, Charlotte Pawlyn, María‐Victoria Mateos, Sonja Zweegman, Martin Schreder, Meral Beksaç, Christoph Driessen, Enrique M. Ocio, Rakesh Popat, Leo Rasche, Cyrille Touzeau, Pellegrino Musto, Annemiek Broijl, Meletios Dimopoulos, Roman Hajek, Mario Boccadoro, Pieter Sonneveld   +25 more
wiley   +1 more source

Hydroa Vacciniforme: When and How to Suspect It. [PDF]

Clin Cosmet Investig Dermatol
Yang C, Zhu R.
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Comparison of Reproducibility and Repeatability of Corneal Topography Measured by ATLAS 500 and ATLAS 9000 in Average Patient Population. [PDF]

Clin Ophthalmol
Tañá-Rivero P, Orts-Vila P, Tañá-Sanz P, Tañá-Sanz S, Ramos M, Tello-Elordi C.   +5 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report. [PDF]

Transl Pediatr
Liu Y, Zhang J, Leng J, Gou P, Cheng X.
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

Neglected Bipolar Hemiarthroplasty Dislocation in a Young Adult with Superior Acetabular Wall Defect - A Case Report. [PDF]

J Orthop Case Rep
Iytha MS, Abraham VT, Sreenivas KD, Lavudi R, Salikity SA, Goutham P.   +5 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Internal Jugular Vein Entrapment: An Underrecognized Cause of Facial Pain. [PDF]

Eur J Neurol
Chan K, Gharib M, Karam J, Won S, Cha YH.   +4 more
europepmc   +1 more source