HuGE Literature Finder
Records
1
-
21
| High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
| Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes 2021 4 12 (4): . Tannorella Pierpaola, Minervino Daniele, Guzzetti Sara, Vimercati Alessandro, Calzari Luciano, Patti Giuseppa, Maghnie Mohamad, Allegri Anna Elsa Maria, Milani Donatella, Scuvera Giulietta, Mariani Milena, Modena Piergiorgio, Selicorni Angelo, Larizza Lidia, Russo Silv |
| Serine/Threonine Kinase 11 Plays a Canonical Role in Malignant Progression of KRAS -Mutant and GNAS -Wild-Type Intraductal Papillary Mucinous Neoplasms of the Pancreas. Annals of surgery 2021 4 277 (2): e384-e395. Omori Yuko, Ono Yusuke, Morikawa Takanori, Motoi Fuyuhiko, Higuchi Ryota, Yamamoto Masakazu, Hayakawa Yuko, Karasaki Hidenori, Mizukami Yusuke, Unno Michiaki, Furukawa To |
| ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clinical epigenetics 2021 5 13 (1): 119. Kagami Masayo, Hara-Isono Kaori, Matsubara Keiko, Nakabayashi Kazuhiko, Narumi Satoshi, Fukami Maki, Ohkubo Yumiko, Saitsu Hirotomo, Takada Shuji, Ogata Tsuto |
| Increased Prevalence of Malignancies in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS): Data from a National Referral Center and the Dutch National Pathology Registry (PALGA). Calcified tissue international 2020 Nov . Hagelstein-Rotman M, Meier M E, Majoor B C J, Cleven A H G, Dijkstra P D S, Hamdy N A T, van de Sande M A J, Dekkers O M, Appelman-Dijkstra N |
| Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 2020 6 12 (1): 86. Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa |
| Differential methylation of imprinting genes and MHC locus in 22q11.2 deletion syndrome-related schizophrenia spectrum disorders. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2020 3 22 (1): 46-57. Carmel Miri, Michaelovsky Elena, Weinberger Ronnie, Frisch Amos, Mekori-Domachevsky Ehud, Gothelf Doron, Weizman Abrah |
| Intratumoral heterogeneity of the tumor cells based on in situ cortisol excess in cortisol-producing adenomas; ?An association among morphometry, genotype and cellular senescence?. The Journal of steroid biochemistry and molecular biology 2020 10 204 105764. Gao Xin, Yamazaki Yuto, Tezuka Yuta, Pieroni Jacopo, Ishii Kae, Atsumi Nanako, Ono Yoshikiyo, Omata Kei, Morimoto Ryo, Nakamura Yasuhiro, Satoh Fumitoshi, Sasano Hirono |
| Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei. The Journal of molecular diagnostics : JMD 2018 6 20 (5): 635-642. Pengelly Reuben J, Rowaiye Babatunde, Pickard Karen, Moran Brendan, Dayal Sanjeev, Tapper William, Mirnezami Alex, Cecil Tom, Mohamed Faheez, Carr Norman, Ennis Sar |
| Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. Nature genetics 2018 10 50 (11): 1542-1552. Zink Florian, Magnusdottir Droplaug N, Magnusson Olafur T, Walker Nicolas J, Morris Tiffany J, Sigurdsson Asgeir, Halldorsson Gisli H, Gudjonsson Sigurjon A, Melsted Pall, Ingimundardottir Helga, Kristmundsdottir Snædis, Alexandersson Kristjan F, Helgadottir Anna, Gudmundsson Julius, Rafnar Thorunn, Jonsdottir Ingileif, Holm Hilma, Eyjolfsson Gudmundur Ingi, Sigurdardottir Olof, Olafsson Isleifur, Masson Gisli, Gudbjartsson Daniel F, Thorsteinsdottir Unnur, Halldorsson Bjarni V, Stacey Simon N, Stefansson Ka |
| Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017 9 33 (1): 84-90. Majoor Bas Cj, Boyce Alison M, Bovée Judith Vmg, Smit Vincent Thbm, Collins Michael T, Cleton-Jansen Anne-Marie, Dekkers Olaf M, Hamdy Neveen At, Dijkstra Pd Sander, Appelman-Dijkstra Natasha |
| Clinical characteristics of PRKACA mutations in Chinese patients with adrenal lesions: a single-centre study. Clinical endocrinology 2016 Jun . Li Xintao, Wang Baojun, Tang Lu, Lang Bin, Zhang Yu, Zhang Fan, Chen Luyao, Ouyang Jinzhi, Zhang |
| PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases. European journal of endocrinology / European Federation of Endocrine Societies 2015 Mar . Thiel Anne, Reis Anna-Carinna, Haase Matthias, Goh Gerald, Schott Matthias, Willenberg Holger S, Scholl Ute Ingr |
| A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects. The Journal of clinical endocrinology and metabolism 2015 9 100 (11): 3963-6. Bakker Boudewijn, Sonneveld Laura J H, Woltering M Claire, Bikker Hennie, Kant Sarina |
| The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases. Human pathology 2012 Aug 43 (8): 1234-42. Lee Seung Eun, Lee Eun Hee, Park Heejung, Sung Ji-Youn, Lee Hyoun Wook, Kang So Young, Seo Sungwook, Kim Byung Heon, Lee Hyojin, Seo An Na, Ahn Geunghwan, Choi Yoon- |
| GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. Journal of hepatology 2012 Jan 56 (1): 184-91. Nault Jean Charles, Fabre Monique, Couchy Gabrielle, Pilati Camilla, Jeannot Emmanuelle, Tran Van Nhieu Jeanne, Saint-Paul Marie-Christine, De Muret Anne, Redon Marie-José, Buffet Catherine, Salenave Sylvie, Balabaud Charles, Prevot Sophie, Labrune Philippe, Bioulac-Sage Paulette, Scoazec Jean-Yves, Chanson Philippe, Zucman-Rossi Jessi |
| Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age. BMC medical genetics 2012 11 13 99. Murphy Rinki, Mackay Deborah, Mitchell Ed |
| Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. American journal of medical genetics. Part A 2010 7 152A (8): 1990-3. Poole Rebecca L, Baple Emma, Crolla John A, Temple I Karen, Mackay Deborah J |
| Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. European journal of endocrinology / European Federation of Endocrine Societies 2009 Jul 161 (1): 153-61. Bimpaki Eirini I, Nesterova Maria, Stratakis Constantine |
| Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. Journal of medical genetics 2009 12 47 (6): 371-6. Tierling Sascha, Souren Nicole Y, Gries Jasmin, Loporto Christina, Groth Marco, Lutsik Pavlo, Neitzel Heidemarie, Utz-Billing Isabelle, Gillessen-Kaesbach Gabriele, Kentenich Heribert, Griesinger Georg, Sperling Karl, Schwinger Eberhard, Walter Jö |
| The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome. European journal of endocrinology / European Federation of Endocrine Societies 2006 Nov 155 (5): 763-70. Hahn Susanne, Frey Ulrich H, Siffert Winfried, Tan Susanne, Mann Klaus, Janssen Onno |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
- Content source: