Results 101 to 110 of about 30,899,280 (234)
The Journal of Pathology: Clinical Research, Volume 12, Issue 5, September 2026.Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Daniel Martínez Anaya +10 more
wiley +1 more source
Neurofibromatosis type 2 (NF2) [PDF]
, 2001 Review on Neurofibromatosis type 2 (NF2), with data on clinics, and the genes ...
Gusella, JF
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.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 +11 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.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 +2 more
wiley +1 more source
, 2001 Extensive retinal microvascular malformation involving both small and large retinal vessels. (Ref: BJO 2002:86, p282-284). Anatomy: Retina. Pathology: Retinal microvascular malformations. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
core
, 1987 LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
core +1 more source
Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome
Scientific ReportsMoyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders.
Akikazu Nakamura +15 more
doaj +1 more source
Haematologica, 2014 RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of survival, proliferation, differentiation and senescence pathways. Signaling of the RAS-GTPases through the RAF-MEK-ERK pathway, the first identified mitogen-associated
Charlotte M. Niemeyer
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects multiple organ systems, most commonly the skin, peripheral nerves, and skeletal system. However, involvement of the anterior mediastinum is rare and has been sporadically reported in the literature.
Yuhao Qi +4 more
wiley +1 more source
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 +7 more
doaj