Results 71 to 80 of about 4,319 (167)
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene
Genes, Chromosomes and Cancer, Volume 63, Issue 1, January 2024.Abstract PMS2 germline pathogenic variants are one of the major causes for Lynch syndrome and constitutional mismatch repair deficiencies. Variant identification in the 3′ region of this gene is complicated by the presence of the pseudogene PMS2CL which shares a high sequence homology with PMS2.
Ahmed Bouras +4 more
wiley +1 more source
Human Mutation, Volume 2024, Issue 1, 2024.Routine gene panel analysis identifies pathogenic variants in clinically relevant genes. However, variants of unknown significance (VUSs) are commonly observed, many of which potentially have an impact on mRNA transcription and splicing. Several software programs attempt to predict the impact of variants on splicing and thus make it possible to select ...
Maud Privat +10 more
wiley +1 more source
Dermatopathologic emergencies part ii: Dermatopathologic and situational
Indian Journal of Dermatopathology and Diagnostic Dermatology, 2018 In dermatopathology, there are several conditions which must be addressed emergently. While some conditions necessitate emergent intervention because of the pathology of the cutaneous manifestations, others require recognition of the underlying serious ...
Douglas H Atmatzidis +3 more
doaj +1 more source
Surgical Interventions and the Use of Device-Aided Therapy for the Treatment of Fecal Incontinence and Defecatory Disorders [PDF]
, 2017 The purpose of this clinical practice update expert review is to describe the key principles in the use of surgical interventions and device-aided therapy for managing fecal incontinence (FI) and defecatory disorders.
Bharucha, Adil E. +2 more
core +2 more sources
Sebaceous carcinoma of scalp with proliferating trichilemmal cyst
Indian Dermatology Online Journal, 2012 Sebaceous carcinoma is a rare neoplasm of the sebaceous gland. It is diagnosed mainly on histopathology and, clinically, it may mimic other neoplasms like squamous or basal cell carcinoma. We came across a patient presenting with a non-healing ulcer over
Siddhi Chikhalkar +3 more
doaj +1 more source
GORLIN-GOLTZ SYNDROME: A CASE REPORT [PDF]
, 2014 Introdução: O Síndrome de Gorlin-Goltz é uma condição hereditária autossómica dominante rara caracterizada por: carcinomas basocelulares, queratoquistos odontogénicos, depressões palmo-plantares, calcificações da foice cerebral e malformações ...
Bezerra, R. +6 more
core
Dermatology Research and Practice, 2010 Cutaneous neoplasms including sebaceous tumors, keratoacanthomas, and basal cell carcinomas with sebaceous differentiation can be markers of internal malignancy associated with the Muir-Torre Syndrome (MTS).
Michael C. Lynch, Bryan E. Anderson
doaj +1 more source
Dermatopathologic emergencies part I
Indian Journal of Dermatopathology and Diagnostic Dermatology, 2017 In dermatopathology, there are several conditions which must be addressed emergently. While some conditions necessitate emergent intervention because of the pathology of the cutaneous manifestations, others require recognition of the underlying serious ...
Douglas Hoffman Atmatzidis +3 more
doaj +1 more source
Neue S1‐Leitlinie Talgdrüsenkarzinom
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 6, Page 903-904, June 2024.
Jochen Utikal, Selma Ugurel
wiley +1 more source