Cargando…

Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome

BACKGROUND: Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45–60% of JPS cases, with BMPR1a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Papadopulos, M. E., Plazzer, J. P., Macrae, F. A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316536/ https://www.ncbi.nlm.nih.gov/pubmed/37400896 http://dx.doi.org/10.1186/s13053-023-00255-3

Ejemplares similares

Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome
por: Zhao, Zi-Ye, et al.
Publicado: (2023)

Juvenile polyposis without a germline variant in SMAD4/BMPR1A: defining a clinically distinct polyposis syndrome
por: MacFarland, Suzanne P., et al.
Publicado: (2021)

Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers
por: Rosner, Guy, et al.
Publicado: (2022)

Polyposis found on index colonoscopy in a 56-year-old female - BMPR1A variant in juvenile polyposis syndrome: A case report
por: Wu, Michael Yulong, et al.
Publicado: (2023)

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report
por: Liu, Qing, et al.
Publicado: (2020)

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
por: Lieberman, Sari, et al.
Publicado: (2019)

3323 Juvenile Polyposis Syndrome Patients Without a Mutation in SMAD4 or BMPR1A: Clinical Presentation and Novel Drivers of Disease
por: MacFarland, Suzanne, et al.
Publicado: (2019)

Polyposis syndromes– what to do when genotyping seems not informative
por: Macrae, F
Publicado: (2012)

Juvenile polyposis syndrome
por: Upadhyaya, Vijai D., et al.
Publicado: (2008)

Juvenile polyposis syndrome
por: Cichy, Wojciech, et al.
Publicado: (2014)

Juvenile polyposis syndrome
por: Hussain, Tasadooq, et al.
Publicado: (2019)

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
por: Russell, Bianca E., et al.
Publicado: (2019)

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome
por: Clendenning, Mark, et al.
Publicado: (2013)

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion
por: Taylor, Henry, et al.
Publicado: (2021)

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
por: Blatter, Robert, et al.
Publicado: (2020)

A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome
por: Miyahara, Yosuke, et al.
Publicado: (2020)

Juvenile polyposis coli.
por: Johnston, G. W., et al.
Publicado: (1968)

Juvenile polyposis syndrome: A case report
por: Pérez-Castilla, A., et al.
Publicado: (2019)

Juvenile polyposis syndrome: A case report
por: Mogere, Edwin, et al.
Publicado: (2023)

Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
por: Katz, Lior Haim, et al.
Publicado: (2022)

A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant
por: Liu, Yutong, et al.
Publicado: (2023)

Juvenile Polyposis Syndrome Complicated With Gastric Outlet Obstruction
por: Rios Crespo, Ricardo, et al.
Publicado: (2022)

A Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease
por: Bernshteyn, Michelle, et al.
Publicado: (2022)

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
por: Racacho, Lemuel, et al.
Publicado: (2015)

Genotype‐phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol
por: de Oliveira, Junea C., et al.
Publicado: (2019)

Genotype–Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis
por: Zhu, Li-Hua, et al.
Publicado: (2023)

Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review
por: Gao, Xian Hua, et al.
Publicado: (2020)

Juvenile polyposis syndrome affecting the stomach: A case report
por: Kelly, Steven, et al.
Publicado: (2008)

BMPR2 Variants Underlie Nonsyndromic Oligodontia
por: Zheng, Jinglei, et al.
Publicado: (2023)

Sirolimus for the Treatment of Juvenile Polyposis in Childhood
por: Martín-Masot, Rafael, et al.
Publicado: (2021)

Giant Gastric Folds in Juvenile Polyposis
por: Leonard, Nicole B., et al.
Publicado: (2021)

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis
por: Chaudhary, Ammar G., et al.
Publicado: (2022)

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer
por: Kaushik, Varun, et al.
Publicado: (2021)

Carcinosarcoma with Choriocarcinomatous and Osteosarcomatous Differentiation in a Patient with Juvenile Polyposis Syndrome
por: Parra-Medina, Rafael, et al.
Publicado: (2015)

Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania
por: Lodhia, Jay, et al.
Publicado: (2020)

Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy
por: Bell, Lisa Dillon, et al.
Publicado: (2022)

Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
por: Tao, Meng-Yu, et al.
Publicado: (2022)

Germline variant testing in serrated polyposis syndrome
por: Murphy, Aisling, et al.
Publicado: (2022)

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)

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
por: Micolonghi, Caterina, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_etas4d1f3gt6rb4j5sefmdchcm