Now showing items 1805-1824 of 3493

    • L1CAM variants cause two distinct imaging phenotypes on fetal MRI 

      Accogli, A.; Goergen, S.; Izzo, G.; Mankad, K.; Krajden Haratz, K.; Parazzini, C.; Fahey, M.; Menzies, L.; Baptista, J.; Carpineta, L.; Tortora, D.; Fulcheri, E.; Gaetano Vellone, V.; Paladini, D.; Spaccini, L.; Toto, V.; Trayers, C.; Ben Sira, L.; Reches, A.; Malinger, G.; Salpietro, V.; De Marco, P.; Srour, M.; Zara, F.; Capra, V.; Rossi, A.; Severino, M. (Wiley, 2021-09-12)
      Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed ...
    • Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. 

      Hernández-Ramírez, L. C.; Gabrovska, P.; Dénes, J.; Stals, Karen; Trivellin, G.; Tilley, D.; Ferrau, F.; Evanson, J.; Ellard, Sian; Grossman, A. B.; Roncaroli, F.; Gadelha, M. R.; Korbonits, M. (Endocrine Society, 2015-09)
      Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected ...
    • Langerhans cell histiocytosis in a 5-month-old baby. 

      Chanchlani, Neil; Parke, Simon C.; Hart, James W. (Canadian Medical Association, 2021-01-04)
    • Langerhans Cell Sarcoma: A Case Report Demonstrating Morphological and Immunophenotypical Variability within a Single Lesion. 

      Singh, R.; Keen, Charles Edward; Stone, Christopher; Sarsfield, Patrick (Hindawi, 2017-05)
      Langerhans cells are antigen presenting dendritic cells and tumours arising from these are rare. The tumours arising from these dendritic cells are divided into two categories according to a WHO classification: Langerhans ...
    • LAP-VEGaS Practice Guidelines for Reporting of Educational Videos in Laparoscopic Surgery: A Joint Trainers and Trainees Consensus Statement. 

      Celentano, V.; Smart, Neil J.; McGrath, John S; Cahill, R. A.; Spinelli, A.; Obermair, A.; Hasegawa, H.; Lal, P.; Almoudaris, A. M.; Hitchins, C. R.; Pellino, G.; Browning, M. G.; Ishida, T.; Luvisetto, F.; Cingiloglu, P.; Gash, K.; Harries, R.; Harji, D.; Di Candido, F.; Cassinotti, E.; McDermott, Frank D.; Berry, J. E. A.; Battersby, N. J.; Platt, E.; Campain, Nick J.; Keeler, B. D.; Boni, L.; Gupta, S.; Griffith, J. P.; Acheson, A. G.; Cecil, T. D.; Coleman, M. G. (Wolters Kluwer, 2018-03-05)
      Consensus statement by an international multispecialty trainers and trainees expert committee on guidelines for reporting of educational videos in laparoscopic surgery.
    • Laparoscopic cholecystectomy in children: A systematic review and meta-analysis 

      Mattson, A.; Sinha, A.; Njere, I.; Borkar, N.; Sinha, C. K. (Elsevier, 2022-10-12)
      BACKGROUND: Laparoscopic cholecystectomy (LC) has become the procedure of choice for the removal of gallbladder within the paediatric population. The aim of this study was to perform a systematic review and meta-analysis ...
    • Laparoscopic partial splenectomy using the harmonic scalpel for parenchymal transection: two case reports and review of the literature 

      Di Mauro, Davide; Fasano, Angelica; Gelsomino, Mariannita; Manzelli, Antonio (0, 2021-04-30)
      Laparoscopic splenectomy is nowadays widely performed for the treatment of benign and malignant diseases of the spleen. However, removing the spleen increases the risk of postoperative infections, therefore patients need ...
    • Laparoscopy in management of appendicitis in high-, middle-, and low-income countries: a multicenter, prospective, cohort study 

      GlobalSurg Colloborative inc:; Zimmermann, Eleanor F.; Smart, Neil J.; Warwick, Andrea; Stasinou, Theodora; Daniels, Ian R.; Findlay-Cooper, Kim (Springer, 2018-08)
    • Large bowel obstruction in a 27-year-old woman caused by a sigmoid faecal bolus. 

      Smith, Radford Arran James; Abdalkoddus, Muhammad; Bethune, Rob (BMJ, 2018-05-14)
      A 27-year-old woman presented to the emergency department with a 24-hour history of severe left iliac fossa pain associated with vomiting. She reported a history of ovarian cysts and was provisionally diagnosed with a ...
    • Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates 

      Tuke, M.; Tyrrell, Jessica; Ruth, K. S.; Frayling, Timothy M.; Weedon, M. N.; Beaumont, Robin N.; Wood, A. R.; Murray, Anna; Wright, Caroline F (Elsevier Science, 2020-08-06)
      Large copy-number variants (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease depends strongly on when and where the mutation occurred, i.e., germline versus somatic. We used ...
    • Large epigenome-wide association study of childhood ADHD identifies peripheral DNA methylation associated with disease and polygenic risk burden 

      Mill, Jonathan (Nature Publishing Group, 2020-01-21)
      Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker of complex disease and disease-related exposures. To date, few studies have examined differences in DNA methylation associated ...
    • A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations 

      Iype, T.; Alakbarzade, Vafa; Iype, M.; Singh, R.; Sreekantan-Nair, Ajith; Chioza, Barry A.; Mohapatra, T. M.; Baple, E. L.; Patton, M. A.; Warner, T. T.; Proukakis, C.; Kulkarni, A.; Crosby, Andrew H. (BMC Med Genet, 2015-11-10)
      BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset ...
    • A large single-centre series assessing the Achillon® suture system for repair of acute midsubstance achilles tendon ruptures 

      Clarke, L.; Czipri, Matyas; Talbot, Nick J.; Sharpe, Ian T.; Hughes, Adrian M (British Editorial Society of Bone and Joint Journal, 2016-11-14)
      Active patients may benefit from surgical repair of the achilles tendon with the aim of preserving functional length and optimising push-off power. A mini-open device assisted technique has the potential to reduce wound ...
    • Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression 

      Võsa, U.; Claringbould, A.; Westra, H. J.; Bonder, M. J.; Deelen, P.; Zeng, B.; Kirsten, H.; Saha, A.; Kreuzhuber, R.; Yazar, S.; Brugge, H.; Oelen, R.; de Vries, D. H.; van der Wijst, M. G. P.; Kasela, S.; Pervjakova, N.; Alves, I.; Favé, M. J.; Agbessi, M.; Christiansen, M. W.; Jansen, R.; Seppälä, I.; Tong, L.; Teumer, A.; Schramm, K.; Hemani, G.; Verlouw, J.; Yaghootkar, H.; Sönmez Flitman, R.; Brown, A.; Kukushkina, V.; Kalnapenkis, A.; Rüeger, S.; Porcu, E.; Kronberg, J.; Kettunen, J.; Lee, B.; Zhang, F.; Qi, T.; Hernandez, J. A.; Arindrarto, W.; Beutner, F.; Dmitrieva, J.; Elansary, M.; Fairfax, B. P.; Georges, M.; Heijmans, B. T.; Hewitt, A. W.; Kähönen, M.; Kim, Y.; Knight, J. C.; Kovacs, P.; Krohn, K.; Li, S.; Loeffler, M.; Marigorta, U. M.; Mei, H.; Momozawa, Y.; Müller-Nurasyid, M.; Nauck, M.; Nivard, M. G.; Penninx, Bwjh; Pritchard, J. K.; Raitakari, O. T.; Rotzschke, O.; Slagboom, E. P.; Stehouwer, C. D. A.; Stumvoll, M.; Sullivan, P.; t Hoen, P. A. C.; Thiery, J.; Tönjes, A.; van Dongen, J.; van Iterson, M.; Veldink, J. H.; Völker, U.; Warmerdam, R.; Wijmenga, C.; Swertz, M.; Andiappan, A.; Montgomery, G. W.; Ripatti, S.; Perola, M.; Kutalik, Z.; Dermitzakis, E.; Bergmann, S.; Frayling, T.; van Meurs, J.; Prokisch, H.; Ahsan, H.; Pierce, B. L.; Lehtimäki, T.; Boomsma, D. I.; Psaty, B. M.; Gharib, S. A.; Awadalla, P.; Milani, L.; Ouwehand, W. H.; Downes, K.; Stegle, O.; Battle, A.; Visscher, P. M.; Yang, J.; Scholz, M.; Powell, J.; Gibson, G.; Esko, T.; Franke, L. (Nature, 2021-09-01)
      Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait ...
    • Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function 

      Wild, P. S. [et al]; Sharp, Andrew (American Society for Clinical Investigation, 2017-04-10)
      BACKGROUND. Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual ...
    • Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility 

      Sazonovs, A.; Stevens, C. R.; Venkataraman, G. R.; Yuan, K.; Avila, B.; Abreu, M. T.; Ahmad, T.; Allez, M.; Ananthakrishnan, A. N.; Atzmon, G.; Baras, A.; Barrett, J. C.; Barzilai, N.; Beaugerie, L.; Beecham, A.; Bernstein, C. N.; Bitton, A.; Bokemeyer, B.; Chan, A.; Chung, D.; Cleynen, I.; Cosnes, J.; Cutler, D. J.; Daly, A.; Damas, O. M.; Datta, L. W.; Dawany, N.; Devoto, M.; Dodge, S.; Ellinghaus, E.; Fachal, L.; Farkkila, M.; Faubion, W.; Ferreira, M.; Franchimont, D.; Gabriel, S. B.; Ge, T.; Georges, M.; Gettler, K.; Giri, M.; Glaser, B.; Goerg, S.; Goyette, P.; Graham, D.; Hämäläinen, E.; Haritunians, T.; Heap, G. A.; Hiltunen, M.; Hoeppner, M.; Horowitz, J. E.; Irving, P.; Iyer, V.; Jalas, C.; Kelsen, J.; Khalili, H.; Kirschner, B. S.; Kontula, K.; Koskela, J. T.; Kugathasan, S.; Kupcinskas, J.; Lamb, C. A.; Laudes, M.; Lévesque, C.; Levine, A. P.; Lewis, J. D.; Liefferinckx, C.; Loescher, B. S.; Louis, E.; Mansfield, J.; May, S.; McCauley, J. L.; Mengesha, E.; Mni, M.; Moayyedi, P.; Moran, C. J.; Newberry, R. D.; O'Charoen, S.; Okou, D. T.; Oldenburg, B.; Ostrer, H.; Palotie, A.; Paquette, J.; Pekow, J.; Peter, I.; Pierik, M. J.; Ponsioen, C. Y.; Pontikos, N.; Prescott, N.; Pulver, A. E.; Rahmouni, S.; Rice, D. L.; Saavalainen, P.; Sands, B.; Sartor, R. B.; Schiff, E. R.; Schreiber, S.; Schumm, L. P.; Segal, A. W.; Seksik, P.; Shawky, R.; Sheikh, S. Z.; Silverberg, M. S.; Simmons, A.; Skeiceviciene, J.; Sokol, H.; Solomonson, M.; Somineni, H.; Sun, D.; Targan, S.; Turner, D.; Uhlig, H. H.; van der Meulen, A. E.; Vermeire, S.; Verstockt, S.; Voskuil, M. D.; Winter, H. S.; Young, J.; Duerr, R. H.; Franke, A.; Brant, S. R.; Cho, J.; Weersma, R. K.; Parkes, M.; Xavier, R. J.; Rivas, M. A.; Rioux, J. D.; McGovern, D. P. B.; Huang, H.; Anderson, C. A.; Daly, M. J. (Nature, 2022-09-01)
      Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn's disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncoding variants ...
    • The last generation of the pommy medical officer. 

      Armstrong, Alexander (Springer, 2013-06)
    • Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene 

      Yahya, S.; Smith, C. E. L.; Poulter, J. A.; McKibbin, M.; Arno, G.; Ellingford, J.; Kämpjärvi, K.; Khan, M. I.; Cremers, F. P. M.; Hardcastle, A. J.; Castle, B.; Steel, D. H. W.; Webster, A. R.; Black, G. C.; El-Asrag, M. E.; Ali, M.; Toomes, C.; Inglehearn, C. F. (Elsevier, 2022-08-05)
      PURPOSE: To characterize the phenotype observed in a case series with macular disease and determine the cause. DESIGN: Multicenter case series. PARTICIPANTS: Six families (7 patients) with sporadic or multiplex macular ...
    • Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant 

      Tysoe, Carolyn; Caswell, Richard (Elsevier Science, 2020-10)
      Purpose: To describe patients with late-onset pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. Design: Retrospective observational case series. Methods: Clinical evaluation, multimodal ...