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Literature DB >> 25273316

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

Yoko Izumi¹, Ikuma Musha, Erina Suzuki, Manami Iso, Tomoko Jinno, Reiko Horikawa, Shin Amemiya, Tsutomu Ogata, Maki Fukami, Akira Ohtake.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2014 PMID： 25273316 DOI： 10.1007/s12020-014-0434-4

Source DB: PubMed Journal: Endocrine ISSN： 1355-008X Impact factor: 3.633

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12 in total

1. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

Authors: Yoko Izumi; Erina Suzuki; Susumu Kanzaki; Shuichi Yatsuga; Saori Kinjo; Maki Igarashi; Tetsuo Maruyama; Shinichiro Sano; Reiko Horikawa; Naoko Sato; Kazuhiko Nakabayashi; Kenichiro Hata; Akihiro Umezawa; Tsutomu Ogata; Yasunori Yoshimura; Maki Fukami
Journal: Fertil Steril Date: 2014-07-23 Impact factor: 7.329

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

Authors: Kirsi Vaaralahti; Johanna Tommiska; Vallo Tillmann; Natalja Liivak; Johanna Känsäkoski; Eeva-Maria Laitinen; Taneli Raivio
Journal: Pediatr Res Date: 2014-04-25 Impact factor: 3.756

3. Human haploinsufficiency--one for sorrow, two for joy.

Authors: E Fisher; P Scambler
Journal: Nat Genet Date: 1994-05 Impact factor: 38.330

4. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Authors: Hua Zhang; Hongsheng Chen; Hunjin Luo; Jing An; Lin Sun; Lingyun Mei; Chufeng He; Lu Jiang; Wen Jiang; Kun Xia; Jia-Da Li; Yong Feng
Journal: Hum Genet Date: 2011-10-01 Impact factor: 4.132

5. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

Authors: Brezo Jelena; Lam Christina; Vilain Eric; Quintero-Rivera Fabiola
Journal: Am J Med Genet A Date: 2014-04-08 Impact factor: 2.802

6. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

Authors: N Bondurand; V Pingault; D E Goerich; N Lemort; E Sock; C Le Caignec; M Wegner; M Goossens
Journal: Hum Mol Genet Date: 2000-08-12 Impact factor: 6.150

Review 7. The genetic basis of female reproductive disorders: etiology and clinical testing.

Authors: Lawrence C Layman
Journal: Mol Cell Endocrinol Date: 2013-03-14 Impact factor: 4.102

8. Significance of intravenous olfaction test using thiamine propyldisulfide (Alinamin) in olfactometry.

Authors: M Furukawa; M Kamide; T Miwa; R Umeda
Journal: Auris Nasus Larynx Date: 1988 Impact factor: 1.863

9. Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Authors: Veronique Pingault; Virginie Bodereau; Viviane Baral; Severine Marcos; Yuli Watanabe; Asma Chaoui; Corinne Fouveaut; Chrystel Leroy; Odile Vérier-Mine; Christine Francannet; Delphine Dupin-Deguine; Françoise Archambeaud; François-Joseph Kurtz; Jacques Young; Jérôme Bertherat; Sandrine Marlin; Michel Goossens; Jean-Pierre Hardelin; Catherine Dodé; Nadege Bondurand
Journal: Am J Hum Genet Date: 2013-05-02 Impact factor: 11.025

10. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Authors: Hichem Miraoui; Andrew A Dwyer; Gerasimos P Sykiotis; Lacey Plummer; Wilson Chung; Bihua Feng; Andrew Beenken; Jeff Clarke; Tune H Pers; Piotr Dworzynski; Kimberley Keefe; Marek Niedziela; Taneli Raivio; William F Crowley; Stephanie B Seminara; Richard Quinton; Virginia A Hughes; Philip Kumanov; Jacques Young; Maria A Yialamas; Janet E Hall; Guy Van Vliet; Jean-Pierre Chanoine; John Rubenstein; Moosa Mohammadi; Pei-San Tsai; Yisrael Sidis; Kasper Lage; Nelly Pitteloud
Journal: Am J Hum Genet Date: 2013-05-02 Impact factor: 11.025

8 in total

1. SOX10 is over-expressed in bladder cancer and contributes to the malignant bladder cancer cell behaviors.

Authors: H Yin; C Qin; Y Zhao; Y Du; Z Sheng; Q Wang; Q Song; L Chen; C Liu; T Xu
Journal: Clin Transl Oncol Date: 2017-03-03 Impact factor: 3.405

2. Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report.

Authors: Shuhei Morita; Ken Takeshima; Hiroyuki Ariyasu; Yasushi Furukawa; Shohei Kishimoto; Tomoya Tsuji; Shinsuke Uraki; Hiroyuki Mishima; Akira Kinoshita; Yuichi Takahashi; Hidefumi Inaba; Hiroshi Iwakura; Hiroto Furuta; Masahiro Nishi; Asako Doi; Shin-Ichi Murata; Koh-Ichiro Yoshiura; Takashi Akamizu
Journal: BMC Endocr Disord Date: 2020-06-22 Impact factor: 2.763

3. 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

Review 4. Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Authors: Kan Chen; Haoyu Wang; Yaxin Lai
Journal: Front Endocrinol (Lausanne) Date: 2021-02-01 Impact factor: 5.555