Results 71 to 80 of about 4,213 (222)

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

Clinical Genetics, EarlyView.
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

Rare case of schwannomatosis presenting with cauda equina syndrome: a case report. [PDF]

Ann Med Surg (Lond)
Background: Schwannomatosis is a rare disorder characterized by multiple schwannomas without vestibular schwannomas or other features of neurofibromatosis type 2 (NF2).
Khan A, Zahoor N, Riaz AA, Siddique H, Malik A, Ahmed R, Poombal F, Antar M.   +7 more
europepmc   +2 more sources

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

Efficacy and Toxicity of Bevacizumab in Children with NF2-Related Schwannomatosis: A Systematic Review

Cancers
Simple Summary This systematic review investigates the effect of bevacizumab in pediatric patients with NF2-related schwannomatosis (NF2), a tumor predisposition syndrome characterized by the occurrence of multiple schwannomas, meningiomas, and/or ...
Annemijn L. Tops, Josefine E. Schopman, R. Koot, H. Gelderblom, N. A. Putri, Latifah N. A. Rahmi, J. C. Jansen, E. Hensen   +7 more
semanticscholar   +1 more source

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma [PDF]

, 2021
Purpose: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in
Evans, D. Gareth, Foulkes, William D., Irving, Rachel E. A., McDonald McGinn, Donna M., Messiaen, Ludwine M., Murray, Alexandra J., Perez-becerril, Cristina, Rivera, Barbara, Smith, Miriam J., Stevenson, David A.   +9 more
core   +1 more source

SMARCA4-Associated Schwannomatosis

, 2022
Abstract Background Schwannomatosis is a disorder characterized by a predisposition to multiple benign spinal, peripheral and intracranial nerve sheath tumors (schwannomas (SWNs)). The molecular mechanism of schwannomatosis involves several genes located on chromosome 22q, SMARCB1, LZTR1, NF2 and more recently, DGCR8. Case Presentation: here,
Fiona Chan-Pak-Choon, Carla Roca, Anne-Sophie Chong, Clara Nogué, Sonja Dahlum, Rachel Austin, Helen Mar Fan, Thomas Robertson, Karin van Spaendonck-Zwarts, Reiner Siebert, Barbara Rivera, William D. Foulkes   +11 more
openaire   +1 more source

Clinical response to bevacizumab in schwannomatosis [PDF]

Neurology, 2014
Schwannomatosis is a neurogenetic syndrome characterized by schwannomas throughout the peripheral nervous system without bilateral vestibular schwannomas (VS) or germline neurofibromatosis 2 (NF2) mutation.1 Management is difficult due to large tumor burden and treatment-resistant pain.
Blakeley, Jaishri, Schreck, Karisa C, Evans, D Gareth, Korf, Bruce R, Zagzag, David, Karajannis, Matthias A, Bergner, Amanda L, Belzberg, Allan J   +7 more
openaire   +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

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

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