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.

Published in:

Clinical Genetics, 2007, v. 72, n. 6, p. 568, doi. 10.1111/j.1399-0004.2007.00907.x

By:

de Leng, W. W. J.;
Jansen, M.;
Carvalho, R.;
Polak, M.;
Musler, A. R.;
Milne, A. N. A.;
Keller, J. J.;
Menko, F. H.;
de Rooij, F. W. M.;
Iacobuzio-Donahue, C. A.;
Giardiello, F. M.;
Weterman, M. A. J.;
Offerhaus, G. J. A.

Publication type:

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.

Published in:

Journal of Biomolecular Structure & Dynamics, 2019, v. 37, n. 3, p. 796, doi. 10.1080/07391102.2018.1441070

By:

Rungsung, Ikrormi;
Ramaswamy, Amutha

Publication type:

Article

Peutz -Jeghers syndrome (PJS).

Published in:

2017

By:

Dhroove, Gati

Publication type:

journal article

Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.

Published in:

Clinical Genetics, 2013, v. 83, n. 4, p. 365, doi. 10.1111/j.1399-0004.2012.01928.x

By:

Orellana, P;
López‐Köstner, F;
Heine, C;
Suazo, C;
Pinto, E;
Church, J;
Carvallo, P;
Alvarez, K

Publication type:

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.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8201, doi. 10.3390/ijms21218201

By:

Cerasuolo, Andrea;
Cammarota, Francesca;
Duraturo, Francesca;
Staiano, Annamaria;
Martinelli, Massimo;
Miele, Erasmo;
Izzo, Paola;
De Rosa, Marina

Publication type:

Article

例黑斑息肉综合征合并空肠套叠梗阻病例报道.

Published in:

Journal of Shanghai Jiaotong University (Medical Science), 2021, v. 41, n. 8, p. 1129, doi. 10.3969/j.issn.1674-8115.2021.08.023

By:

罗明旺;
张兆祺;
卫媛;
闫文帝;
严东旺

Publication type:

Article

A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study.

Published in:

Gastroenterology & Hepatology from Bed to Bench, 2023, v. 16, n. 3, p. 341, doi. 10.22037/ghfbb.v16i2.2751

By:

Khanabadi, Binazir;
Seyfi, Diba Najafgholizadeh;
Rejali, Leili;
Taleghani, Mohammad Yaghoob;
Tavallaei, Mehdi;
Shahrokh, Shabnam;
Abkenar, Elahe Daskar;
Noukabadi, Fatemeh Naderi;
Aghdaei, Hamid Asadzadeh;
Mojarad, Ehsan Nazemalhosseini

Publication type:

Article

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0626-5

By:

Jiang, Yu-Liang;
Zhao, Zi-Ye;
Li, Bai-Rong;
Yang, Fu;
Li, Jing;
Jin, Xiao-Wei;
Wang, Hao;
Yu, En-Da;
Sun, Shu-Han;
Ning, Shou-Bin

Publication type:

Article

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Published in:

2016

By:

Hu Tan;
Libin Mei;
Yanru Huang;
Pu Yang;
Haoxian Li;
Ying Peng;
Chen Chen;
Xianda Wei;
Qian Pan;
Desheng Liang;
Lingqian Wu

Publication type:

Case Study

Multidisciplinary management for Peutz-Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing.

Published in:

2022

By:

Xu, Xiqiao;
Song, Ruifeng;
Hu, Kaiyue;
Li, Ya;
Jin, Haixia;
Chen, Bing;
Song, Wenyan;
Zhang, Yile;
Xu, Jiawei;
Sun, Yingpu

Publication type:

journal article

LKB1, a protein kinase regulating cell proliferation and polarity

Published in:

FEBS Letters, 2003, v. 546, n. 1, p. 159, doi. 10.1016/S0014-5793(03)00642-2

By:

Boudeau, Jérôme;
Sapkota, Gopal;
Alessi, Dario R.

Publication type:

Article

中国 Peutz-Jeghers 综合征女性患者妇科疾病诊治现状调查.

Published in:

China Oncology, 2022, v. 32, n. 11, p. 1049, doi. 10.19401/j.cnki.1007-3639.2022.11.003

By:

石月;
陈奕清;
丁景新;
宁燕;
汪清;
马凤华;
谭灏文;
康玉

Publication type:

Article

儿童Peutz-Jeghers 综合征研究现状.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 10, p. 1122, doi. 10.7499/j.issn.1008-8830.2404054

By:

童琴;
综述;
赵红梅;
审校

Publication type:

Article

Síndrome de Peutz Jeghers, manifestaciones bucales y su relación con la odontopediatría.

Published in:

Odontología Pediátrica, 2012, v. 11, n. 1, p. 40

By:

Chirinos-Llerena, Wilbert

Publication type:

Article

A qualitative research on reproductive concerns of the patients with Peutz-Jeghers syndrome.

Published in:

Journal of Psychosomatic Obstetrics & Gynecology, 2024, v. 45, n. 1, p. 1, doi. 10.1080/0167482X.2024.2405615

By:

Pan, Mengxia;
Ye, Beilei;
Shen, Huajuan;
Jin, Jiyong;
Zhang, Qiong

Publication type:

Article

Hereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 7, p. 819, doi. 10.3390/diagnostics15070819

By:

Borsotti, Edoardo;
Nava, Francesca Laura;
Benedicenti, Felice;
Cini, Laura;
Magarotto, Andrea;
Ferrari, Davide;
Cantù, Paolo;
Vitellaro, Marco;
Rausa, Emanuele;
Cavalcoli, Federica

Publication type:

Article

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

Published in:

Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873

By:

Hastings, Michelle L.;
Resta, Nicoletta;
Traum, Daniel;
Stella, Alessandro;
Guanti, Ginevra;
Krainer, Adrian R.

Publication type:

Article

Crystal structure of MO25a in complex with the C terminus of the pseudo kinase STE20-related adaptor.

Published in:

Nature Structural & Molecular Biology, 2004, v. 11, n. 2, p. 193, doi. 10.1038/nsmb716

By:

Milburn, Christine C.;
Boudeau, Jerome;
Deak, Maria;
Alessi, Dario R.;
Daan M.F. van Aalten, Dario R.

Publication type:

Article

Association of LKB1 with a WD-repeat protein WDR6 is implicated in cell growth arrest and p27<sup>Kip1</sup> induction.

Published in:

Molecular & Cellular Biochemistry, 2007, v. 301, n. 1/2, p. 115, doi. 10.1007/s11010-006-9402-5

By:

Xiaoduo Xie;
Zhenzhen Wang;
Yan Chen

Publication type:

Article

Breast cancer, ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome.

Published in:

Archives of Gynecology & Obstetrics, 2008, v. 278, n. 1, p. 75, doi. 10.1007/s00404-007-0535-x

By:

Kilic-Okman, Tulay;
Yardim, Turgut;
Gücer, Fatih;
Altaner, Semsi;
Yuce, M. Ali

Publication type:

Article

Single‐cell landscape of the cellular microenvironment in three different colonic polyp subtypes in children.

Published in:

Clinical & Translational Medicine, 2024, v. 14, n. 1, p. 1, doi. 10.1002/ctm2.1535

By:

Deng, Yafei;
Li, Canlin;
Huang, Lanlan;
Xiong, Peiwen;
Li, Yana;
Liu, Yongjie;
Li, Songyang;
Chen, Weijian;
Yin, Qiang;
Li, Yong;
Yang, Qinglan;
Peng, Hongyan;
Wu, Shuting;
Wang, Xiangyu;
Tong, Qin;
Ouyang, Hongjuan;
Hu, Die;
Liu, Xinjia;
Li, Liping;
You, Jieyu

Publication type:

Article

Benefits of ‘clean sweep’ in Peutz-Jeghers patients.

Published in:

Colorectal Disease, 2004, v. 6, n. 5, p. 332, doi. 10.1111/j.1463-1318.2004.00623.x

By:

Oncel, M.;
Remzi, F.H.;
Church, J.M.;
Connor, J.T.;
Fazio, V.W.

Publication type:

Article

Uncommon manifestation of Peutz-Jeghers syndrome: a case of jejuno-jejunal intussusception and volvulus leading to small bowel obstruction.

Published in:

2024

By:

Barhmji, Hesham;
Alsalehi, Abduraboh;
Kammasha, Ahmad;
Alkheder, Ahmad

Publication type:

Case Study

case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions.

Published in:

2022

By:

Gorji, Leva;
Huish, Grant;
Morgan, Joshua;
Levy, Paul

Publication type:

Case Study

Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz–Jeghers syndrome.

Published in:

Journal of Surgical Case Reports, 2019, v. 2019, n. 1, p. N.PAG, doi. 10.1093/jscr/rjz004

By:

Algarni, Maidah;
Raml, Enas;
Trabulsi, Nora;
Nassif, Mohammed

Publication type:

Article

Prepubertal Gynecomastia in Two Monozygotic Twins with Peutz-Jeghers Syndrome: Two Years' Treatment with Anastrozole and Genetic Study.

Published in:

Hormone Research in Paediatrics, 2011, v. 75, n. 5, p. 374, doi. 10.1159/000324178

By:

Grandone, Anna;
Miraglia del Giudice, Emanuele;
Cirillo, Grazia;
Santarpia, Michele;
Coppola, Filomena;
Perrone, Laura

Publication type:

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.

Published in:

Hormone Research in Paediatrics, 2005, v. 63, n. 5, p. 252, doi. 10.1159/000086325

By:

Kara, Cengiz;
Kutlu, Alev Oguz;
Tosun, Mahya Sultan;
Apaydın, Sema;
Senel, Ferda

Publication type:

Article

Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations.

Published in:

2022

By:

Kariv, Revital;
Dahary, Dvir;
Yaron, Yuval;
Petel-Galil, Yael;
Malcov, Mira;
Rosner, Guy

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.

Published in:

Genes, 2022, v. 13, n. 2, p. 321, doi. 10.3390/genes13020321

By:

Vietri, Maria Teresa;
D'Elia, Giovanna;
Caliendo, Gemma;
Albanese, Luisa;
Signoriello, Giuseppe;
Napoli, Claudio;
Molinari, Anna Maria

Publication type:

Article

Inhibition of β-Catenin Activity Abolishes LKB1 Loss-Driven Pancreatic Cystadenoma in Mice.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4649, doi. 10.3390/ijms22094649

By:

Hsieh, Mei-Jen;
Weng, Ching-Chieh;
Lin, Yu-Chun;
Wu, Chia-Chen;
Chen, Li-Tzong;
Cheng, Kuang-Hung;
Luchini, Claudio

Publication type:

Article

Combined endoscopic and surgical treatment for the polyposis of Peutz-Jeghers syndrome.

Published in:

2000

By:

Lin, B.-C.;
Lien, J.-M.;
Chen, R.-J.;
Fang, J.-F.;
Wong, Y.-C.

Publication type:

journal article

Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan.

Published in:

Surgery Today, 2016, v. 46, n. 11, p. 1231, doi. 10.1007/s00595-015-1296-y

By:

Ishida, Hideyuki;
Tajima, Yusuke;
Gonda, Tsuyoshi;
Kumamoto, Kensuke;
Ishibashi, Keiichiro;
Iwama, Takeo

Publication type:

Article

Acute malignant intestinal obstruction accompanied by synchronous multifocal intestinal cancer in Peutz-Jeghers syndrome: report of a case.

Published in:

Surgery Today, 2012, v. 42, n. 11, p. 1125, doi. 10.1007/s00595-012-0165-1

By:

Eren, Tunc;
Bayraktar, Baris;
Celik, Yahya;
Boluk, Salih;
Adali, Gupse

Publication type:

Article

LKB1 gene alterations in surgically resectable adenocarcinoma of the lung.

Published in:

Surgery Today, 2011, v. 41, n. 1, p. 107, doi. 10.1007/s00595-009-4243-y

By:

Okuda, Katsuhiro;
Sasaki, Hidefumi;
Hikosaka, Yu;
Kawano, Osamu;
Moriyama, Satoru;
Yano, Motoki;
Fujii, Yoshitaka

Publication type:

Article

Solitary duodenal hamartomatous polyp with malignant transformation: Report of a case.

Published in:

Surgery Today, 2009, v. 39, n. 6, p. 527, doi. 10.1007/s00595-008-3873-9

By:

Aza Jamaludin;
Pemasari Telisinghe;
Samuel Yapp;
Vui Chong

Publication type:

Article

Germline Mutation of the LKB1/STK11 Gene with Loss of the Normal Allele in an Aggressive Breast Cancer of Peutz-Jeghers Syndrome.

Published in:

Oncology, 2004, v. 67, n. 5/6, p. 476, doi. 10.1159/000082933

By:

Nakanishi, Chikashi;
Yamaguchi, Tatsuro;
Iijima, Takeru;
Saji, Shigehira;
Toi, Masakazu;
Mori, Takeo;
Miyaki, Michiko

Publication type:

Article

Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/9159315

By:

Wu, Bo-Da;
Wang, Yong-Jun;
Fan, Liang-Liang;
Huang, Hui;
Zhou, Peng;
Yang, Mei;
Shi, Xiao-Liu

Publication type:

Article

Seven-Year Follow-Up of Peutz-Jeghers Syndrome.

Published in:

Case Reports in Dentistry, 2016, p. 1, doi. 10.1155/2016/6052181

By:

Mozaffari, Hamid Reza;
Rezaei, Fetemeh;
Sharifi, Roohollah;
Mirbahari, S. Ghasem

Publication type:

Article

Peutz-Jeghers lentigines revealing epidermodysplasia verruciformis in two siblings.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2025, v. 16, n. 1, p. 90, doi. 10.7241/ourd.20251.19

By:

Chhiti, Sokaina;
Baybay, Hanane;
Moumna, Rasha;
Douhi, Zakia;
Soughi, Meryem;
Elloudi, Sara;
Mernissi, Fatima zahra

Publication type:

Article

Laugier‐Hunziker syndrome: a case report of the pediatric patient and review of the literature.

Published in:

International Journal of Dermatology, 2020, v. 59, n. 12, p. 1513, doi. 10.1111/ijd.15262

By:

Sputa‐Grzegrzolka, Patrycja;
Wozniak, Zdzislaw;
Akutko, Katarzyna;
Pytrus, Tomasz;
Baran, Wojciech;
Calik, Jacek;
Glatzel‐Plucinska, Natalia;
Domagala, Zygmunt;
Podhorska‐Okolow, Marzenna;
Stawarski, Andrzej;
Dziegiel, Piotr

Publication type:

Article

Polycystic ovary syndrome ( PCOS) with melanocytic mucosal macules: the role of STK11 gene polymorphisms in PCOS and Peutz-Jeghers syndrome.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 2, p. 177, doi. 10.1111/ijd.12787

By:

Smith, Kathleen J.;
Germain, Marguerite

Publication type:

Article

RARE ENTITY OF TWO-POINT INTUSSUSCEPTIONS IN AN ADOLESCENT WITH PEUTZJEGHERS SYNDROME.

Published in:

Brunei International Medical Journal (BIMJ), 2021, v. 17, p. 149

By:

SOH, Jien Yen;
OARIS, Iqtidaar;
HASHIM ISA MERICAN, Siti Rahmah;
ZAKARIA, Zaidi

Publication type:

Article

Solitary Peutz-Jeghers Polyp in a Paediatric Patient.

Published in:

Case Reports in Gastroenterology, 2010, v. 4, n. 3, p. 452, doi. 10.1159/000321573

By:

Retrosi, Giuseppe;
Nanni, Lorenzo;
Vecchio, Fabio Maria;
Manzoni, Carlo;
Canali, Raffaella;
Busato, Gaia;
Pintus, Claudio

Publication type:

Article

A rare cause of mechanical intestinal obstruction due to small bowel intussusception: "A solitary Peutz-Jeghers type hamartomatous polyp".

Published in:

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

By:

Aytin, Yusuf Emre;
Türkyılmaz, Zeliha

Publication type:

Article

Feminizing Sertoli Cell Tumor Associated with Peutz-Jeghers Syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 4, p. 449, doi. 10.1515/jpem.2002.15.4.449

By:

Alikasifoglu, Ayfer;
Gone, E. Nazl;
Akcoren, Zuhal;
Kale, Gulsev;
Ciftci, Arbay O.;
Senocak, M. Emin;
Yordam, Nursen

Publication type:

Article

An Incidentally Discovered Asymptomatic Para-Aortic Paraganglioma with Peutz-Jeghers Syndrome.

Published in:

Saudi Journal of Gastroenterology, 2012, v. 18, n. 6, p. 388, doi. 10.4103/1319-3767.103432

By:

Butt, Nazish;
Salih, Mohammad;
Rizwan Khan, Mohammad;
Ahmed, Rashida;
Haider, Zishan;
Hasnain Ali Shah, Syed

Publication type:

Article

Testicular tumors with Peutz-Jeghers syndrome.

Published in:

1986

By:

Wilson, Darrell M.;
Pitts, William C.;
Hintz, Raymond L.;
Rosenfeld, Ron G.;
Wilson, D M;
Pitts, W C;
Hintz, R L;
Rosenfeld, R G

Publication type:

journal article

Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Published in:

Journal of Genetics, 2012, v. 91, n. 2, p. 205, doi. 10.1007/s12041-012-0152-8

By:

LIU, DAN;
GUO, HONG;
XU, XUEQING;
YU, YANYAN;
BAI, YUN

Publication type:

Article

One Novel Deletion and One Splicing Mutation of the LKB1 Gene in Two Chinese Patients with Peutz-Jeghers Syndrome.

Published in:

DNA & Cell Biology, 2012, v. 31, n. 10, p. 1535, doi. 10.1089/dna.2012.1720

By:

Chen, Chunyan;
Zhang, Xiaomei;
Wang, Fangyu;
Liu, Chang;
Lu, Heng;
Wan, Haijun;
Wei, Juan;
Liu, Jiong

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

By:

Zhao, Zi-Ye;
Jiang, Yu-Liang;
Li, Bai-Rong;
Li, Jing;
Jin, Xiao-Wei;
Yu, En-Da;
Ning, Shou-Bin

Publication type:

journal article