Results 61 to 70 of about 3,249 (205)

Multiple spinal schwannomas in absence of neurofibromatosis (Schwannomatosis) – A rare condition: Review with case report

Indian Spine Journal, 2019
Schwannomas are benign, slow-growing tumors originating from sensory rootlets. Schwannomatosis is a distinct clinical syndrome characterized by the presence of multiple schwannomas in the spine with the absence of typical features suggestive of either ...
Sandeep Bhardwaj, Kunj Bihari Saraswat, Amit Pratap Singh Deora, Ashok Gupta   +3 more
doaj   +1 more source

Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis

Biomedicines
Background: Charcot–Marie–Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal ...
Quynh Tran Thuy Huong, Linh Tran Nguyen Truc, Hiroko Ueda, Kenji Fukui, Koichiro Higasa, Yoshinori Sato, Shinichi Takeda, Motoshi Hattori, Hiroyasu Tsukaguchi   +8 more
doaj   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, Volume 109, Issue 5, Page 859-868, May 2026.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Comparative Oncogenomic Analysis of Copy Number Alterations in Human and Zebrafish Tumors Enables Cancer Driver Discovery [PDF]

, 2013
The identification of cancer drivers is a major goal of current cancer research. Finding driver genes within large chromosomal events is especially challenging because such alterations encompass many genes.
A Amores, A Amsterdam, A Amsterdam, A Amsterdam, A Faucherre, A Force, A Kozomara, A Walther, Adam Amsterdam, AI McClatchey, AI McClatchey, AW MacInnes, B Vogelstein, BA Weir, C Dai, C Gregorian, Charles A. Whittaker, CT Storlazzi, D Pinkel, D Tautz, DM Langenau, DM Langenau, E Beert, EE Patton, EJ Kauffman, Eline Beert, Eric Legius, ES Venkatraman, ET Sawey, F Sanchez-Garcia, G Chai, G Streisinger, G Zhang, GP Nielsen, GP Nielsen, GuangJun Zhang, H Schmidt, HR Brekke, J Shin, J Tang, J Yu, J Zietsch, JA Jimenez-Heffernan, Jacqueline A. Lees, JH Postlethwait, JM Catchen, JM Woodruff, John H. Postlethwait, Julian M. Catchen, K Cichowski, K Lai, KE Torres, KF Macleod, KH Brown, L Chin, L Zender, L Zender, LA Garraway, LA Rudner, LW Dillon, M Baudis, M Demestre, M Kasahara, M Kim, M Meyerson, M Sheffer, M Smid, MA Mohideen, MA Watson, Marshall S. Horwitz, MC Mione, MD Wallace, MP Ghadimi, MR Stratton, N Holtkamp, N McGranahan, Nancy Hopkins, PJ Stephens, Q Jiang, R Beroukhim, R Beroukhim, RB Phillips, RI Aqeilan, RS Maser, S Berghmans, S Frohling, S Kavumpurath, S Roessler, S Zhu, Sarah Farrington, Sebastian Hoersch, SF Bakhoum, SH Kresse, SJ Kazmi, SL Carter, SL Johnson, SL Johnson, TJ Hulsebos, TM Kim, W Xue, WM Lin, Y Nakagawa   +101 more
core   +4 more sources

Comparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring

Scientific Reports
To compare 1D (linear) tumor volume calculations and classification systems with 3D-segmented volumetric analysis (SVA), focusing specifically on their effectiveness in the evaluation and management of NF2-associated vestibular schwannomas (VS).
Isabel Gugel, Nuran Aboutaha, Bianca Pfluegler, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Florian Grimm   +6 more
doaj   +1 more source

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark, Alexander Renwick, Yao Yu, Aniko Sabo, Andrew F. Olshan, Sharon E. Plon, Chad D. Huff, Philip J. Lupo   +7 more
wiley   +1 more source

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group [PDF]

, 2021
The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and ...
Bourdeaut, F., Boztug, H., Cornips, M. C. A., Evans, D. G., Farah, R., Fruhwald, M. C., Glentis, S., Hirsch, S., Jahnukainen, K., Jorgensen, M., Katsibardi, K., Kerl, K., Kordes, U., Kratz, C. P., Kventsel, I., Nemes, K., Pajtler, K. W., Ridola, V., Stutz, E.   +18 more
core   +2 more sources

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

Annals of Neurology, Volume 99, Issue 2, Page 369-381, February 2026.
[Color figure can be viewed at www.annalsofneurology.org] rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury.
Julia P. Bischoff, Alexander Schulz, Christian Hagel, Robert Büttner, Michael Reuter, Waylan K. Bessler, D. Wade Clapp, Helen Morrison   +7 more
wiley   +1 more source

22q11.2 deletion syndrome [PDF]

, 2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S., Emanuel, Beverly S., Marino, Bruno, McDonald-McGinn, Donna M., Morrow, Bernice E., Philip, Nicole, Scambler, Peter J., Sullivan, Kathleen E., Swillen, Ann, Vermeesch, Joris R., Vorstman, Jacob A. S., Zackai, Elaine H.   +11 more
core   +1 more source

Segmental schwannomatosis: characteristics in 12 patients

Orphanet Journal of Rare Diseases, 2019
Background Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature.
Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein, Juliette Mazereeuw-Hautier   +5 more
doaj   +1 more source