Literature DB >> 24769923

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

Kirsi Vaaralahti1, Johanna Tommiska2, Vallo Tillmann3, Natalja Liivak4, Johanna Känsäkoski1, Eeva-Maria Laitinen2, Taneli Raivio2.   

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Year:  2014        PMID： 24769923     DOI： 10.1038/pr.2014.60

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  13 in total

Review 1.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2015-09-22       Impact factor: 19.871

2.  Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

Authors:  Yoko Izumi; Ikuma Musha; Erina Suzuki; Manami Iso; Tomoko Jinno; Reiko Horikawa; Shin Amemiya; Tsutomu Ogata; Maki Fukami; Akira Ohtake
Journal:  Endocrine       Date:  2014-10-02       Impact factor: 3.633

Review 3.  Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Authors:  Ulrich Boehm; Pierre-Marc Bouloux; Mehul T Dattani; Nicolas de Roux; Catherine Dodé; Leo Dunkel; Andrew A Dwyer; Paolo Giacobini; Jean-Pierre Hardelin; Anders Juul; Mohamad Maghnie; Nelly Pitteloud; Vincent Prevot; Taneli Raivio; Manuel Tena-Sempere; Richard Quinton; Jacques Young
Journal:  Nat Rev Endocrinol       Date:  2015-07-21       Impact factor: 43.330

Review 4.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2016-02       Impact factor: 19.871

Review 5.  Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.

Authors:  Richard Quinton; Marco Bonomi; Biagio Cangiano; Du Soon Swee
Journal:  Hum Genet       Date:  2020-03-21       Impact factor: 4.132

6.  Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Authors:  Małgorzata Kałużna; Bartłomiej Budny; Michał Rabijewski; Jarosław Kałużny; Agnieszka Dubiel; Małgorzata Trofimiuk-Müldner; Elżbieta Wrotkowska; Alicja Hubalewska-Dydejczyk; Marek Ruchała; Katarzyna Ziemnicka
Journal:  Genes (Basel)       Date:  2021-06-05       Impact factor: 4.096

7.  Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Authors:  Xiaoyu Yu; Yun Lin; Hao Wu
Journal:  Neural Plast       Date:  2020-08-28       Impact factor: 3.599

8.  Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism.

Authors:  Jian Zhang; Shu-Yan Tang; Xiao-Bin Zhu; Peng Li; Jian-Qi Lu; Jiang-Shan Cong; Ling-Bo Wang; Feng Zhang; Zheng Li
Journal:  Asian J Androl       Date:  2021 May-Jun       Impact factor: 3.285

9.  SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.

Authors:  Hirohito Shima; Etsuro Tokuhiro; Shingo Okamoto; Mariko Nagamori; Tsutomu Ogata; Satoshi Narumi; Akie Nakamura; Yoko Izumi; Tomoko Jinno; Erina Suzuki; Maki Fukami
Journal:  J Endocr Soc       Date:  2021-03-30

10.  Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Authors:  Zippora Brownstein; Suleyman Gulsuner; Tom Walsh; Fábio T A Martins; Shahar Taiber; Ofer Isakov; Ming K Lee; Mor Bordeynik-Cohen; Maria Birkan; Weise Chang; Silvia Casadei; Nada Danial-Farran; Amal Abu-Rayyan; Ryan Carlson; Lara Kamal; Asgeir Ö Arnthórsson; Meirav Sokolov; Dror Gilony; Noga Lipschitz; Moshe Frydman; Bella Davidov; Michal Macarov; Michal Sagi; Chana Vinkler; Hana Poran; Reuven Sharony; Nadra Samra; Na'ama Zvi; Hagit Baris-Feldman; Amihood Singer; Ophir Handzel; Ronna Hertzano; Doaa Ali-Naffaa; Noa Ruhrman-Shahar; Ory Madgar; Efrat Sofrin-Drucker; Amir Peleg; Morad Khayat; Mordechai Shohat; Lina Basel-Salmon; Elon Pras; Dorit Lev; Michael Wolf; Eirikur Steingrimsson; Noam Shomron; Matthew W Kelley; Moien N Kanaan; Stavit Allon-Shalev; Mary-Claire King; Karen B Avraham
Journal:  Clin Genet       Date:  2020-08-24       Impact factor: 4.296
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