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Year | Number of Results |
---|---|
1997 | 1 |
1998 | 1 |
2011 | 1 |
2013 | 3 |
2014 | 1 |
2024 | 0 |
PubMed (cited) for id: 615140
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Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5.
Am J Med Genet A. 2014.
PMID: 24798461
Review.
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM.
Salih MA, et al.
Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30.
Am J Med Genet A. 2013.
PMID: 23633300
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Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG.
Akizu N, et al.
Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28.
Am J Hum Genet. 2013.
PMID: 23453666
Free PMC article.
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Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS.
Zahrani F, et al.
Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28.
Am J Hum Genet. 2013.
PMID: 23453665
Free PMC article.
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.
Najmabadi H, et al.
Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
Nature. 2011.
PMID: 21937992
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Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6.
Ansari-Lari MA, Oeltjen JC, Schwartz S, Zhang Z, Muzny DM, Lu J, Gorrell JH, Chinault AC, Belmont JW, Miller W, Gibbs RA.
Ansari-Lari MA, et al.
Genome Res. 1998 Jan;8(1):29-40.
Genome Res. 1998.
PMID: 9445485
Free article.
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Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.
Ansari-Lari MA, Shen Y, Muzny DM, Lee W, Gibbs RA.
Ansari-Lari MA, et al.
Genome Res. 1997 Mar;7(3):268-80. doi: 10.1101/gr.7.3.268.
Genome Res. 1997.
PMID: 9074930
Free article.
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