Cargando…

Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study

Background and study aims In most patients with juvenile polyposis Syndrome, it is possible to detect a pathogenic germline variant in SMAD4 or BMPR1A . It is well known that patients with a pathogenic variant in SMAD4 have a higher risk of gastric polyposis and gastric cancer compared to BMPR1A ca...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jelsig, Anne Marie, Qvist, Niels, Bertelsen, Birgitte, Christensen, Lise-Lotte, Grossjohan, Hanne, Lautrup, Charlotte Kvist, Sunde, Lone, Tørring, Pernille Mathiesen, Ljungman, Ken, Christensen, Louise Torp, Karstensen, John Gásdal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag KG 2022
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754866/ https://www.ncbi.nlm.nih.gov/pubmed/36531685 http://dx.doi.org/10.1055/a-1954-0522

Ejemplares similares

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
por: Jelsig, Anne Marie, et al.
Publicado: (2023)

Danish guidelines for management of non-APC-associated hereditary polyposis syndromes
por: Jelsig, Anne Marie, et al.
Publicado: (2021)

Cancer risk and mortality in patients with solitary juvenile polyps—A nationwide cohort study with matched controls
por: Jelsig, Anne Marie, et al.
Publicado: (2023)

Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights
por: Pachler, Frederik Rønne, et al.
Publicado: (2023)

Cancer risk and mortality in patients with solitary Peutz–Jeghers polyps
por: Jelsig, Anne Marie, et al.
Publicado: (2023)

Biodegradable stents for the treatment of bowel strictures in Crohn's disease: technical results and challenges
por: Karstensen, John Gásdal, et al.
Publicado: (2016)

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
por: Jelsig, Anne Marie, et al.
Publicado: (2021)

SMAD4 Protein Expression Is Downregulated in Ileal Epithelial Cells from Patients with Crohn's Disease with Significant Inverse Correlation to Disease Activity
por: Klausen, Pia, et al.
Publicado: (2018)

Coronavirus Disease-19 (COVID-19) associated with severe acute pancreatitis: Case report on three family members
por: Hadi, Amer, et al.
Publicado: (2020)

Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review
por: BRIX, Anna Trier Heiberg, et al.
Publicado: (2022)

Comorbidity among HHT patients and their controls in a 20 years follow-up period
por: Aagaard, Katrine Saldern, et al.
Publicado: (2018)

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features
por: Bayat, Allan, et al.
Publicado: (2022)

20-year follow-up study of Danish HHT patients—survival and causes of death
por: Kjeldsen, Anette, et al.
Publicado: (2016)

Exploring the hereditary background of renal cancer in Denmark
por: Christensen, Maria Bejerholm, et al.
Publicado: (2019)

Use of Oral Anticoagulation Therapy in Atrial Fibrillation after Stroke: Results from a Nationwide Registry
por: Jespersen, Stine Funder, et al.
Publicado: (2013)

Hamartomatous polyposis syndromes: A review
por: Jelsig, Anne Marie, et al.
Publicado: (2014)

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
por: Miceikaite, Ieva, et al.
Publicado: (2021)

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function
por: Roos, Laura, et al.
Publicado: (2015)

A core curriculum for basic EUS skills: An international consensus using the Delphi methodology
por: Karstensen, John Gásdal, et al.
Publicado: (2022)

Colon cancer patients with a serious psychiatric disorder present with a more advanced cancer stage and receive less adjuvant chemotherapy - A Nationwide Danish Cohort Study
por: Kaerlev, Linda, et al.
Publicado: (2018)

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
por: Aagaard, Katrine S., et al.
Publicado: (2020)

Total burden of disease in cancer patients at diagnosis—a Danish nationwide study of multimorbidity and redeemed medication
por: Loeppenthin, Katrine, et al.
Publicado: (2020)

Shared care versus hospital-based cardiac rehabilitation: a cost-utility analysis based on a randomised controlled trial
por: Bertelsen, Jannik B, et al.
Publicado: (2018)

Endoscopic Ultrasound-Guided Fine Needle Aspiration: From the Past to the Future
por: Costache, Mădălin-Ionuț, et al.
Publicado: (2013)

EUS-guided transcolonic drainage and necrosectomy in walled-off necrosis: a retrospective, single-center case series
por: Ebrahim, Mohamed, et al.
Publicado: (2023)

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly
por: Ree, Rasmus, et al.
Publicado: (2019)

Dural tear from diagnostic lumbar puncture followed by long-term morbidity: a case report
por: Haugstvedt, Aleksander Fjeld, et al.
Publicado: (2020)

Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
por: Korsager, Leise Elisabeth Hviid, et al.
Publicado: (2023)

Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia
por: Tørring, Pernille Mathiesen, et al.
Publicado: (2017)

Patients’ acceptance of video consultations in the mental health services: A systematic review and synthesis of qualitative research
por: Moeller, Anne Marie, et al.
Publicado: (2022)

Nationwide cardiovascular disease admission rates during a second COVID-19 lockdown
por: Christensen, Daniel Mølager, et al.
Publicado: (2021)

EUS-guided biopsy versus confocal laser endomicroscopy in patients with pancreatic cystic lesions: A systematic review and meta-analysis
por: Kovacevic, Bojan, et al.
Publicado: (2021)

Acute pancreatitis secondary to duodeno-duodenal intussusception caused by a duodenal membrane, in a patient with intestinal malrotation
por: Larsen, Pernille Oehlenschläger, et al.
Publicado: (2015)

Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood
por: Sunde, Lone, et al.
Publicado: (2020)

Nephrogenic Systemic Fibrosis in Denmark– A Nationwide Investigation
por: Elmholdt, Tina R., et al.
Publicado: (2013)

Trends in assisted ventilation and outcome for obstructive pulmonary disease exacerbations. A nationwide study
por: Toft-Petersen, Anne Pernille, et al.
Publicado: (2017)

Atrial cardiomyopathy in patients with ischaemic stroke: a cross-sectional and prospective cohort study—the COAST study
por: Larsen, Bjørn Strøier, et al.
Publicado: (2022)

Dyssynergic patterns of defecation in constipated adolescents and young adults with anorectal malformations
por: Bjørsum-Meyer, Thomas, et al.
Publicado: (2020)

Simultaneous endoscopic and video-assisted retroperitoneal debridement in walled-off pancreatic necrosis using a laparoscopic access platform: Two case reports
por: Lindgaard, Lars, et al.
Publicado: (2022)

Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy
por: Kodal, Louise Sloth, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_fv4ujnoqe3riurfp43muc7gc0a