Literature DB >> 16061567

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

H G Kim, S R Herrick, E Lemyre, S Kishikawa, J A Salisz, S Seminara, M E MacDonald, G A P Bruns, C C Morton, B J Quade, J F Gusella.   

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Year:  2005        PMID： 16061567      PMCID： PMC1736121          DOI： 10.1136/jmg.2004.026989

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


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  28 in total

1.  Impaired FGF signaling contributes to cleft lip and palate.

Authors:  Bridget M Riley; M Adela Mansilla; Jinghong Ma; Sandra Daack-Hirsch; Brion S Maher; Lisa M Raffensperger; Erilynn T Russo; Alexandre R Vieira; Catherine Dodé; Moosa Mohammadi; Mary L Marazita; Jeffrey C Murray
Journal:  Proc Natl Acad Sci U S A       Date:  2007-03-06       Impact factor: 11.205

2.  A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.

Authors:  B M Riley; R E Schultz; M E Cooper; T Goldstein-McHenry; S Daack-Hirsch; K T Lee; E Dragan; A R Vieira; A C Lidral; M L Marazita; J C Murray
Journal:  Am J Med Genet A       Date:  2007-04-15       Impact factor: 2.802

Review 3.  Genetics of cleft lip and cleft palate.

Authors:  Elizabeth J Leslie; Mary L Marazita
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

4.  Heterozygous deletion of ventral anterior homeobox (vax1) causes subfertility in mice.

Authors:  Hanne M Hoffmann; Anika Tamrazian; Huimin Xie; María Inés Pérez-Millán; Alexander S Kauffman; Pamela L Mellon
Journal:  Endocrinology       Date:  2014-07-25       Impact factor: 4.736

Review 5.  Development of the upper lip: morphogenetic and molecular mechanisms.

Authors:  Rulang Jiang; Jeffrey O Bush; Andrew C Lidral
Journal:  Dev Dyn       Date:  2006-05       Impact factor: 3.780

Review 6.  Haploinsufficiency of Homeodomain Proteins Six3, Vax1, and Otx2 Causes Subfertility in Mice via Distinct Mechanisms.

Authors:  Hanne M Hoffmann; Erica C Pandolfi; Rachel Larder; Pamela L Mellon
Journal:  Neuroendocrinology       Date:  2018-09-27       Impact factor: 4.914

7.  The indirect role of fibroblast growth factor-8 in defining neurogenic niches of the olfactory/GnRH systems.

Authors:  Paolo Emanuele Forni; Kapil Bharti; Ellen M Flannery; Tomomi Shimogori; Susan Wray
Journal:  J Neurosci       Date:  2013-12-11       Impact factor: 6.167

Review 8.  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

9.  Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

Authors:  Junichiro Machida; Têmis M Félix; Jeffrey C Murray; Koh-ichiro Yoshiura; Mitsuyo Tanemura; Munefumi Kamamoto; Kazuo Shimozato; Shin-ichi Sonta; Takao Ono
Journal:  Cleft Palate Craniofac J       Date:  2009-02-02

10.  Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.

Authors:  Roland Haj; Kelly Jackson; Beth A Torchia; Lisa G Shaffer; Bassem A Bejjani; Gordon C Gowans; Michael W Ruff
Journal:  Mol Cytogenet       Date:  2009-01-07       Impact factor: 2.009
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