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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Kim HG,
Herrick SR,
Lemyre E,
Kishikawa S,
Salisz JA,
Seminara S,
MacDonald ME,
Bruns GA,
Morton CC,
Quade BJ,
Gusella JF.
PMID: 16061567 [PubMed - indexed for MEDLINE]
PMCID: PMC1736121
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Cited by 8 PubMed Central articles
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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.
Haj R, Jackson K, Torchia BA, Shaffer LG, Bejjani BA, Gowans GC, Ruff MW.
Mol Cytogenet. 2009 Jan 7; 2:2. Epub 2009 Jan 7.
[Mol Cytogenet. 2009]
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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, et al.
Am J Hum Genet. 2008 Oct; 83(4):511-9. Epub 2008 Oct 2.
[Am J Hum Genet. 2008]
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Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, et al.
Am J Hum Genet. 2008 Mar; 82(3):712-22.
[Am J Hum Genet. 2008]
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