Literature DB >> 12525550

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

A-K Jbour, A F Mubaidin, M Till, H El-Shanti, A Hadidi, K M Ajlouni.   

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Year:  2003        PMID： 12525550      PMCID： PMC1735249          DOI： 10.1136/jmg.40.1.e2

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Authors:  A Deik; B Johannes; J C Rucker; E Sánchez; S E Brodie; E Deegan; K Landy; Y Kajiwara; S Scelsa; R Saunders-Pullman; C Paisán-Ruiz
Journal:  J Neurol       Date:  2014-09-30       Impact factor: 4.849

2.  Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Authors:  Kishin Koh; Fumikazu Kobayashi; Michiaki Miwa; Kazumasa Shindo; Eiji Isozaki; Hiroyuki Ishiura; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

3.  Expression of FSH and its co-localization with FSH receptor and GnRH receptor in rat cerebellar cortex.

Authors:  Chenyu Chu; Jing'an Zhou; Yaqun Zhao; Ce Liu; Pengfei Chang; Qing Zhou; Li Zhao; Weiquan Huang
Journal:  J Mol Histol       Date:  2012-09-13       Impact factor: 2.611

Review 4.  Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

Authors:  A A Tarnutzer; C Gerth-Kahlert; D Timmann; D I Chang; F Harmuth; P Bauer; D Straumann; M Synofzik
Journal:  J Neurol       Date:  2014-10-31       Impact factor: 4.849

5.  Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.

Authors:  Juliette J Kahle; Natali Gulbahce; Chad A Shaw; Janghoo Lim; David E Hill; Albert-László Barabási; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2010-11-15       Impact factor: 6.150

6.  A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.

Authors:  Ruizhi Zheng; Yaguang Zhao; Jiayu Wu; Yuanmei Wang; Jian-Ling Liu; Zhi-Ling Zhou; Xiao-Tao Zhou; Dan-Na Chen; Wei-Hua Liao; Jia-Da Li
Journal:  Mol Med Rep       Date:  2018-05-03       Impact factor: 2.952
  6 in total

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