Results 81 to 90 of about 4,357 (176)

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, Cedrick Lefol, Eric Ruano, Chloé Grand‐Masson, Qing Wang   +4 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, Amy R Weiss, Karl Hoegler, W Clark Lambert   +3 more
doaj   +1 more source

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis

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, Flora Ponelle-Chachuat, Sandrine Viala, Nancy Uhrhammer, Mathis Lepage, Anne Cayre, Yannick Bidet, Yves-Jean Bignon, Mathilde Gay-Bellile, Mathias Cavaillé, F. A. Macrae   +10 more
wiley   +1 more source

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, Gaurav Garg, Rameshwar Gutte, Uday Khopkar   +3 more
doaj   +1 more source

Benign follicular tumors [PDF]

, 2015
Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological ...
Ackerman AB, Agoston AT, Al-Arashi MY, Alsina MM, Ana Rita Gameiro, António Poiares Baptista, Baptista AP, Barr RJ, Batman PA, Betti R, Blaya B, Brownstein MH, Brownstein MH, Cardoso JC, Carr RA, Chan EF, Cho S, Cribier B, Córdoba A, Eng C, Eng C, Findlay GH, Happle R, Harris A, Herrmann JL, Hoang MP, Hunt SJ, Inês Coutinho, José Carlos Cardoso, José Pedro Reis, Kazakov DV, Kimura T, Kossard S, Kutzner H, Lee DA, Leonardi CL, Leonor Ramos, McKenna DB, Mehregan AH, Mehregan AH, Misago N, Misago N, Misago N, Oscar Tellechea, Parren LJ, Pilarski R, Poiares Baptista A, Rahbari H, Reese E, Resnik KS, Rohwedder A, Rosso R, Sangueza OP, Sau P, Schnitzler L, Schulz T, Serra D, Shimanovich I, Shvartsbeyn M, Starink TM, Steffen C, Stierman S, Tellechea O, Tellechea O, Tellechea O, Tellechea O, Weyers W, Winer LH   +67 more
core   +3 more sources

Is elite sport (really) bad for you? Can we answer the question? [PDF]

, 2017
Elite athletes are not immune to mental health issues. Yet, quality research on mental health in elites has so far been limited. Thus, while research on mental health emphasises the prevalence and nature of disorders in the general population, its extent
American Psychiatric Association [APA], Armstrong, Arnold, Berglund, Byrne, Bär, Collins, Doherty, Eklund, Giel, Gouttebarge, Gouttebarge, Gulliver, Guskiewicz, Hill, Hughes, Klinkowski, MacNamara, Markser, Martindale, Meeusen, Muir, Murphy, Pecen, Perseghin, Pickering, Raedeke, Reardon, Rice, Roberts, Schaal, Sebbens, Sudi, Swann, Thompson, Williams, World Health Organization [WHO]   +36 more
core   +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, Karl Hoegler, Amy R Weiss, W Clark Lambert   +3 more
doaj   +1 more source

Muir Torre Syndrom

, 2012
Jahrestagung 2012 der Sächsischen Augenärztlichen ...
Voigt, E, Sommer, F, Pillunat, LE
openaire   +2 more sources

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

Sebaceous carcinoma over cheek: A rare presentation

Medical Journal of Dr. D.Y. Patil University, 2014
Sebaceous carcinoma, an uncommon cutaneous tumor first described by Allaire in 1891. This arises mostly from sebaceous glands in the skin and thus may arise anywhere in the body where these glands exist.
Dakshayani S Nirhale, Amit Parasnis, Virendra S Athavale, Mohit Bhatia   +3 more
doaj   +1 more source