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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Disease and BMPR1A[original query]
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
Human genetics 2002 Jul 111 (1): 108-11.
Friedl Waltraut, Uhlhaas Siegfried, Schulmann Karsten, Stolte Manfred, Loff Steffan, Back Walter, Mangold Elisabeth, Stern Martin, Knaebel Hanns-Peter, Sutter Christian, Weber Ruthild G, Pistorius Steffen, Burger Bettina, Propping Pet
Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2006 Sep 43 (5): 593-8.
Adewoye Adeboye H, Nolan Vikki G, Ma Qianli, Baldwin Clinton, Wyszynski Diego F, Farrell John J, Farrer Lindsay A, Steinberg Martin
Genetic variation in the transforming growth factor-ß signaling pathway and survival after diagnosis with colon and rectal cancer.
Cancer 2011 Sep 117 (18): 4175-83.
Slattery Martha L, Lundgreen Abbie, Herrick Jennifer S, Wolff Roger K, Caan Bette
Genotype-defined cancer risk in juvenile polyposis syndrome.
The British journal of surgery 2015 Jan 102 (1): 114-8.
Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi F H, Kalady M F, Burke C A, Church J
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 May .
D'Alessandro Lisa C A, Al Turki Saeed, Manickaraj Ashok Kumar, Manase Dorin, Mulder Barbara J M, Bergin Lynn, Rosenberg Herschel C, Mondal Tapas, Gordon Elaine, Lougheed Jane, Smythe John, Devriendt Koen, Bhattacharya Shoumo, Watkins Hugh, Bentham Jamie, Bowdin Sarah, Hurles Matthew E, Mital See
Genomic imbalances in syndromic congenital heart disease.
Jornal de pediatria 2017 Mar .
Molck Miriam C, Simioni Milena, Vieira Társis P, Sgardioli Ilária C, Monteiro Fabíola P, Souza Josiane, Fett-Conte Agnes C, Félix Têmis M, Monlléo Isabella L, Gil-da-Silva-Lopes Vera Lúc
Common Genetic Variants on Bone Morphogenetic Protein Receptor Type IB (BMPR1B) Gene Are Predictive for Carotid Intima-Media Thickness.
Circulation journal : official journal of the Japanese Circulation Society 2019 2 83 (4): 749-756.
Wu Yih-Jer, Lee Yi-Nan, Wu Tzu-Wei, Chou Chao-Liang, Wang Li-
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.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 May .
Blatter Robert, Tschupp Benjamin, Aretz Stefan, Bernstein Inge, Colas Chrystelle, Evans D Gareth, Genuardi Maurizio, Hes Frederik J, Hüneburg Robert, Järvinen Heikki, Lalloo Fiona, Moeslein Gabriela, Renkonen-Sinisalo Laura, Resta Nicoletta, Spier Isabel, Varvara Dora, Vasen Hans, Latchford Andrew R, Heinimann Ka
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.
Cancer prevention research (Philadelphia, Pa.) 2020 10 14 (2): 215-222.
MacFarland Suzanne P, Ebrahimzadeh Jessica E, Zelley Kristin, Begum Lubna, Bass Lee M, Brand Randall E, Dudley Beth, Fishman Douglas S, Ganzak Amanda, Karloski Eve, Latham Alicia, Llor Xavier, Plon Sharon, Riordan Mary K, Scollon Sarah R, Stadler Zsofia K, Syngal Sapna, Ukaegbu Chinedu, Weiss Jennifer M, Yurgelun Matthew B, Brodeur Garrett M, Mamula Petar, Katona Bryson
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.
Cancers 2021 10 13 (20): .
Frostberg Erik, Petersen Annabeth Høgh, Bojesen Anders, Rahr Hans Bjarke, Lindebjerg Jan, Rønlund Kari
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Frontiers in genetics 2022 11 13 1020543.
Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii
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