Results 81 to 90 of about 248 (159)

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Therapeutics and Clinical Risk Management, 2015
Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu
Jia WX, Xiao XM, Wu JB, Ma YP, Ge YP, Li Q, Mao QX, Li CR   +7 more
doaj  

Rare variants modulating phenotype in NF1 carriers

Scientific Reports
Neurofibromatosis type 1 (NF1) is a rare genetic disorder with highly variable phenotypes, ranging from psychosocial challenges and congenital malformations to benign tumors and even aggressive cancers.
Elena Pasquinelli, Giulia Casamassima, Giulia Brunelli, Omaima Belakhdar, Samantha Minetto, Salvatore Grosso, Roberto Canitano, Stefania Marsili, Ignazio Martellucci, Salvadora Tindara Miano, Roberto Petrioli, Margherita Baldassarri, Romina D’Aurizio, Chiara Fallerini, Alessandra Renieri   +14 more
doaj   +1 more source

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2

Epigenomes
Neurocutaneous syndromes, known as phakomatoses, encompass a diverse group of congenital conditions affecting the nervous system and skin, with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) among the most clinically significant.
Christina Stylianides, Gavriel Hadjigavriel, Paschalis Theotokis, Efstratios Vakirlis, Soultana Meditskou, Maria Eleni Manthou, Iasonas Dermitzakis   +6 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report

European Journal of Breast Health, 2017
Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma.
Duygu Dursun, Safiye Aktaş, Zekiye Altun, Nur Olgun   +3 more
doaj   +1 more source

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1530-1542, August 2026.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Juvenile Myelomonocytic Leukemia in a Child with Underlying Mutations in Neurofibromatosis Type 1 and FLT3 Genes: A Case Report

Indian Pediatrics Case Reports
Background: Juvenile myelomonocytic leukemia (JMML) is known to be associated with certain genetic variants involved in the RAS pathway. We describe a child with JMML associated with Neurofibromatosis Type 1 (NF1) variant.
Reshma Thomas, Abhilasha Sampagar
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source