Results 111 to 120 of about 86,851 (276)
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]
, 2019 Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T +4 more
core
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler +8 more
wiley +1 more source
Journal of Patient-Reported OutcomesBackground Almost all patients with Neurofibromatosis type 1 (NF1) develop cutaneous neurofibroma (cNF), benign dermal tumours that have a large impact on the patient’s Quality of Life (QoL).
Britt A. E. Dhaenens +5 more
doaj +1 more source
Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management [PDF]
, 2016 Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic ...
Abdolrahimzadeh, Solmaz +4 more
core +1 more source
Developmental Medicine &Child Neurology, EarlyView.This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova +6 more
wiley +1 more source
Hypervascular neurofibromas in a case of neurofibromatosis type 1: a case report [PDF]
, 2011 Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features.
Gogineni, Subhas Babu +1 more
core +1 more source
Survival impact of second primary cutaneous and non‐cutaneous melanoma in melanoma survivors
Journal of the European Academy of Dermatology and Venereology, EarlyView.In this US population‐based cohort study, melanoma survivors diagnosed with regional/distant‐stage SPCM or SPNCM had worse survival compared to those with a single melanoma. Abstract Background Melanoma survivors have a high risk of developing second primary neoplasms, both cutaneous melanoma (SPCM) and non‐cutaneous melanoma (SPNCM), but little is ...
Jingjing Xie +3 more
wiley +1 more source
ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO
Revista Chilena de Obstetricia y Ginecología, 2002 La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M. +2 more
doaj