Poliposis familiar hereditaria y síndrome de Gardner: aportación de la exploración odontoestomatológica a su diagnóstico y descripción de un caso [PDF]
, 2005 La poliposis adenomatosa familiar (PAF) y su variante fenotípica, el síndrome de Gardner, constituyen una infrecuente patología hereditaria autosómica dominante.
Blanco, Ignacio +3 more
core +1 more source
Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome [PDF]
, 2015 core +1 more source
Co-expression of LKB1, MO25α and STRADα in bacteria yield the functional and active heterotrimeric complex [PDF]
, 2018 The tumour suppressor LKB1 plays a critical role in cell proliferation, polarity and energy metabolism. LKB1 is a Ser/Thr protein kinase that is associated with STRAD and MO25 invivo. Here, we describe the individual expression of the three components of
Neumann, Dietbert +4 more
core
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome [PDF]
, 2008 Jong-Ha Yoo +7 more
core +1 more source
Involvement of large rearrangements in MSH6 and PMS2 genes in southern Italian patients with Lynch syndrome [PDF]
, 2018 Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes. Most of germline mutations are point variants, followed by large rearrangements that account to 15-55% of all ...
Cudia, B. +4 more
core +1 more source
Extra-ampullary Peutz–Jeghers polyp causing duodenal intussusception leading to biliary obstruction: a case report [PDF]
, 2016 A. A. Pathirana +5 more
core +1 more source
Mundschleimhaut als Spiegel systemischer Erkrankungen [PDF]
, 2018 Zusammenfassung: Viele Systemerkrankungen können sich an der Mundschleimhaut als zielführender "Nebenbefund" zeigen und mitunter auf eine noch latente Grunderkrankung hinweisen.
Fistarol, S.K., Itin, P.H.
core
The Peutz-Jeghers Syndrome [PDF]
Proceedings of the Royal Society of Medicine, 1958 openaire +2 more sources
Peutz -Jeghers syndrome (PJS) [PDF]
International Journal of Clinical Practice, 2017 openaire +2 more sources