Results 51 to 60 of about 38,242 (241)

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, EarlyView.
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

Glomus Tumors and Neurofibromatosis: A Newly Recognized Association

Plastic and Reconstructive Surgery, Global Open, 2014
Background: Glomus tumors are painful benign tumors arising from the neuromyoarterial elements of the glomus body, typically in a subungual location. Historically, glomus tumors have been considered isolated or sporadic, not typically associated with ...
Bridget Harrison, MD, Douglas Sammer, MD
doaj   +1 more source

MEKK2 mediates aberrant ERK activation in neurofibromatosis type I

Nature Communications, 2020
Neurofibromatosis type I (NF1) is characterized by prominent skeletal abnormalities mediated in part by aberrant ERK pathway activation due to NF1 loss-of-function.
Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt   +12 more
doaj   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Oral manifestations in neurofibromatosis type I: A case report

Journal of Indian Academy of Oral Medicine and Radiology, 2014
Neurofibroma is a benign peripheral nerve sheath tumor, which is one of the most frequent tumors of neural origin. The diagnosis of type 1 neurofibromatosis (NF-I) can be made if there is presence of a neurofibroma. Neurofibromatosis type 1 occurs due to
Ashwinirani Suragimath, Shobha Channabasappa Bijjargi, Abhijeet R Sande, Veerendra S Patil   +3 more
doaj   +1 more source

Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]

, 2016
Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja, Lechpammer, Mirna, Pećina-Šlaus, Nives   +2 more
core   +2 more sources

NEUROFIBROMATOSIS TYPE I : CASE REPORT

Journal of Evolution of Medical and Dental Sciences, 2014
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuro ectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I(NF-1), known as well as Recklinghausen's disease, we have presented a case report of 10 year old boy with complain of scalp ...
Neha Gupta, Poonam Gupta, Baberwal M C, Hemant Mishra   +3 more
openaire   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: a case report

Türk Kardiyoloji Derneği Arşivi, 2017
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with ...
Murathan Küçük, Can Ramazan Öncel, Mustafa Uçar, Aytül Belgi Yıldırım   +3 more
doaj   +1 more source

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type I: Diagnosis after Intestinal Occlusion Secondary to Adhesions after an Episode of Pancreatitis

Revista Brasileira de Cancerologia, 2023
Introduction: Gastrointestinal stromal tumors (GIST), although relatively rare, account for 80% of mesenchymal tumors of the digestive tract. They manifest in any part of the alimentary tract and are derived from Cajal cells. They may occur sporadically
Pamela Viana e Silva, Thiago Menezes Costa, Renanna Najara Veras Rodrigues, Carlos Anselmo Lima   +3 more
doaj   +1 more source