Works matching Peutz-Jeghers syndrome (PJS)
Results: 271
Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.
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- Clinical Genetics, 2007, v. 72, n. 6, p. 568, doi. 10.1111/j.1399-0004.2007.00907.x
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- Article
Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein.
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- Journal of Biomolecular Structure & Dynamics, 2019, v. 37, n. 3, p. 796, doi. 10.1080/07391102.2018.1441070
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- Article
Peutz -Jeghers syndrome (PJS).
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- 2017
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- Publication type:
- journal article
Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 365, doi. 10.1111/j.1399-0004.2012.01928.x
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- Article
Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz–Jeghers Syndrome: Bioinformatic and Molecular Evidence.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8201, doi. 10.3390/ijms21218201
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- Article
例黑斑息肉综合征合并空肠套叠梗阻病例报道.
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- Journal of Shanghai Jiaotong University (Medical Science), 2021, v. 41, n. 8, p. 1129, doi. 10.3969/j.issn.1674-8115.2021.08.023
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- Article
A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study.
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- Gastroenterology & Hepatology from Bed to Bench, 2023, v. 16, n. 3, p. 341, doi. 10.22037/ghfbb.v16i2.2751
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- Article
The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0626-5
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- Article
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
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- 2016
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- Publication type:
- Case Study
Multidisciplinary management for Peutz-Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing.
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- 2022
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- Publication type:
- journal article
LKB1, a protein kinase regulating cell proliferation and polarity
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- FEBS Letters, 2003, v. 546, n. 1, p. 159, doi. 10.1016/S0014-5793(03)00642-2
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- Article
中国 Peutz-Jeghers 综合征女性患者妇科疾病 诊治现状调查.
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- China Oncology, 2022, v. 32, n. 11, p. 1049, doi. 10.19401/j.cnki.1007-3639.2022.11.003
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- Article
儿童Peutz-Jeghers 综合征研究现状.
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- Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 10, p. 1122, doi. 10.7499/j.issn.1008-8830.2404054
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- Article
Síndrome de Peutz Jeghers, manifestaciones bucales y su relación con la odontopediatría.
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- Odontología Pediátrica, 2012, v. 11, n. 1, p. 40
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- Article
A qualitative research on reproductive concerns of the patients with Peutz-Jeghers syndrome.
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- Journal of Psychosomatic Obstetrics & Gynecology, 2024, v. 45, n. 1, p. 1, doi. 10.1080/0167482X.2024.2405615
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- Article
Hereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.
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- Diagnostics (2075-4418), 2025, v. 15, n. 7, p. 819, doi. 10.3390/diagnostics15070819
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- Article
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.
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- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873
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- Article
Crystal structure of MO25a in complex with the C terminus of the pseudo kinase STE20-related adaptor.
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- Nature Structural & Molecular Biology, 2004, v. 11, n. 2, p. 193, doi. 10.1038/nsmb716
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- Article
Association of LKB1 with a WD-repeat protein WDR6 is implicated in cell growth arrest and p27<sup>Kip1</sup> induction.
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- Molecular & Cellular Biochemistry, 2007, v. 301, n. 1/2, p. 115, doi. 10.1007/s11010-006-9402-5
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- Article
Breast cancer, ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome.
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- Archives of Gynecology & Obstetrics, 2008, v. 278, n. 1, p. 75, doi. 10.1007/s00404-007-0535-x
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- Article
Single‐cell landscape of the cellular microenvironment in three different colonic polyp subtypes in children.
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- Clinical & Translational Medicine, 2024, v. 14, n. 1, p. 1, doi. 10.1002/ctm2.1535
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- Article
Benefits of ‘clean sweep’ in Peutz-Jeghers patients.
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- Colorectal Disease, 2004, v. 6, n. 5, p. 332, doi. 10.1111/j.1463-1318.2004.00623.x
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- Article
Uncommon manifestation of Peutz-Jeghers syndrome: a case of jejuno-jejunal intussusception and volvulus leading to small bowel obstruction.
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- 2024
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- Case Study
case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions.
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- 2022
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- Publication type:
- Case Study
Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz–Jeghers syndrome.
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- Journal of Surgical Case Reports, 2019, v. 2019, n. 1, p. N.PAG, doi. 10.1093/jscr/rjz004
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- Article
Prepubertal Gynecomastia in Two Monozygotic Twins with Peutz-Jeghers Syndrome: Two Years' Treatment with Anastrozole and Genetic Study.
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- Hormone Research in Paediatrics, 2011, v. 75, n. 5, p. 374, doi. 10.1159/000324178
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- Article
Sertoli Cell Tumor Causing Prepubertal Gynecomastia in a Boy with Peutz-Jeghers Syndrome: The Outcome of 1-Year Treatment with the Aromatase Inhibitor Testolactone.
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- Hormone Research in Paediatrics, 2005, v. 63, n. 5, p. 252, doi. 10.1159/000086325
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- Article
Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations.
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- 2022
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- Publication type:
- Case Study
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
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- Genes, 2022, v. 13, n. 2, p. 321, doi. 10.3390/genes13020321
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- Article
Inhibition of β-Catenin Activity Abolishes LKB1 Loss-Driven Pancreatic Cystadenoma in Mice.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4649, doi. 10.3390/ijms22094649
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- Article
Combined endoscopic and surgical treatment for the polyposis of Peutz-Jeghers syndrome.
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- 2000
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- Publication type:
- journal article
Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan.
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- Surgery Today, 2016, v. 46, n. 11, p. 1231, doi. 10.1007/s00595-015-1296-y
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- Article
Acute malignant intestinal obstruction accompanied by synchronous multifocal intestinal cancer in Peutz-Jeghers syndrome: report of a case.
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- Surgery Today, 2012, v. 42, n. 11, p. 1125, doi. 10.1007/s00595-012-0165-1
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- Article
LKB1 gene alterations in surgically resectable adenocarcinoma of the lung.
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- Surgery Today, 2011, v. 41, n. 1, p. 107, doi. 10.1007/s00595-009-4243-y
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- Article
Solitary duodenal hamartomatous polyp with malignant transformation: Report of a case.
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- Surgery Today, 2009, v. 39, n. 6, p. 527, doi. 10.1007/s00595-008-3873-9
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- Article
Germline Mutation of the LKB1/STK11 Gene with Loss of the Normal Allele in an Aggressive Breast Cancer of Peutz-Jeghers Syndrome.
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- Oncology, 2004, v. 67, n. 5/6, p. 476, doi. 10.1159/000082933
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- Article
Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.
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- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/9159315
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- Article
Seven-Year Follow-Up of Peutz-Jeghers Syndrome.
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- Case Reports in Dentistry, 2016, p. 1, doi. 10.1155/2016/6052181
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- Article
Peutz-Jeghers lentigines revealing epidermodysplasia verruciformis in two siblings.
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- Our Dermatology Online / Nasza Dermatologia Online, 2025, v. 16, n. 1, p. 90, doi. 10.7241/ourd.20251.19
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- Article
Laugier‐Hunziker syndrome: a case report of the pediatric patient and review of the literature.
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- International Journal of Dermatology, 2020, v. 59, n. 12, p. 1513, doi. 10.1111/ijd.15262
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- Article
Polycystic ovary syndrome ( PCOS) with melanocytic mucosal macules: the role of STK11 gene polymorphisms in PCOS and Peutz-Jeghers syndrome.
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- International Journal of Dermatology, 2016, v. 55, n. 2, p. 177, doi. 10.1111/ijd.12787
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- Publication type:
- Article
RARE ENTITY OF TWO-POINT INTUSSUSCEPTIONS IN AN ADOLESCENT WITH PEUTZJEGHERS SYNDROME.
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- Brunei International Medical Journal (BIMJ), 2021, v. 17, p. 149
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- Article
Solitary Peutz-Jeghers Polyp in a Paediatric Patient.
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- Case Reports in Gastroenterology, 2010, v. 4, n. 3, p. 452, doi. 10.1159/000321573
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- Article
A rare cause of mechanical intestinal obstruction due to small bowel intussusception: "A solitary Peutz-Jeghers type hamartomatous polyp".
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- Turkish Journal of Trauma & Emergency Surgery / Ulusal Travma ve Acil Cerrahi Dergisi, 2022, v. 28, n. 6, p. 879, doi. 10.14744/tjtes.2021.34560
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- Article
Feminizing Sertoli Cell Tumor Associated with Peutz-Jeghers Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 4, p. 449, doi. 10.1515/jpem.2002.15.4.449
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- Article
An Incidentally Discovered Asymptomatic Para-Aortic Paraganglioma with Peutz-Jeghers Syndrome.
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- Saudi Journal of Gastroenterology, 2012, v. 18, n. 6, p. 388, doi. 10.4103/1319-3767.103432
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- Article
Testicular tumors with Peutz-Jeghers syndrome.
- Published in:
- 1986
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- Publication type:
- journal article
Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
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- Journal of Genetics, 2012, v. 91, n. 2, p. 205, doi. 10.1007/s12041-012-0152-8
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- Publication type:
- Article
One Novel Deletion and One Splicing Mutation of the LKB1 Gene in Two Chinese Patients with Peutz-Jeghers Syndrome.
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- DNA & Cell Biology, 2012, v. 31, n. 10, p. 1535, doi. 10.1089/dna.2012.1720
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- Publication type:
- Article
Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl.
- Published in:
- 2018
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- Publication type:
- journal article