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Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.
The five affected individuals exhibit a broad spectrum of phenotypes, ranging from the severe one presented by the index case (grossly shortened and deformed forearm, markedly hypoplastic and appendicular thumb, malformed right foot and ear malformation), to the less conspicuous …
The five affected individuals exhibit a broad spectrum of phenotypes, ranging from the severe one presented by the index case (grossly short …
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A. Ullah E, et al. Ophthalmic Genet. 2017 Jul-Aug;38(4):371-375. doi: 10.1080/13816810.2016.1217550. Epub 2016 Sep 23. Ophthalmic Genet. 2017. PMID: 27661448 Free PMC article.
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence va …
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral micro …
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network; McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. Accogli A, et al. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005. Am J Hum Genet. 2019. PMID: 31585109 Free PMC article.
The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs()4]; c.2564_2567dupTGTT [p.Leu856Phefs()5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, r …
The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs()4]; c.2564_2567dupTGTT [p.Leu856Phefs()5]) are predicted to lead to a t …
Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome.
Kohlhase J, Heinrich M, Liebers M, Fröhlich Archangelo L, Reardon W, Kispert A. Kohlhase J, et al. Cytogenet Genome Res. 2002;98(4):274-7. doi: 10.1159/000071048. Cytogenet Genome Res. 2002. PMID: 12826753
This comparison also revealed the chromosomal location of SALL4 on mouse chromosome 2H3 and suggested that a predicted testis expressed gene TEX20 at the very same locus is most likely not a gene on its own but part of the SALL4 3' UTR. ...
This comparison also revealed the chromosomal location of SALL4 on mouse chromosome 2H3 and suggested that a predicted testis express …
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms. Six affected individuals had mutations …
Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic …