Found: 15
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Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.
- Published in:
- Human Genetics, 2011, v. 129, n. 5, p. 513, doi. 10.1007/s00439-010-0944-y
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- Publication type:
- Article
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.
- Published in:
- 2010
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- Publication type:
- Case Study
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
- Published in:
- 2011
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- Publication type:
- journal article
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
- Published in:
- 2009
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- Publication type:
- journal article
Familial occurrence of the VATER/VACTERL association.
- Published in:
- 2012
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- Publication type:
- Report
CNV Analysis in Monozygotic Twin Pairs Discordant for Urorectal Malformations.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 4, p. 802, doi. 10.1017/thg.2013.29
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- Publication type:
- Article
Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005024
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- Publication type:
- Article
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5069, doi. 10.1093/hmg/ddv225
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- Publication type:
- Article
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5536, doi. 10.1093/hmg/ddu259
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- Publication type:
- Article
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
- Published in:
- Human Mutation, 2012, v. 33, n. 7, p. 1045, doi. 10.1002/humu.22082
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- Publication type:
- Article
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3035, doi. 10.1002/ajmg.a.36153
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- Publication type:
- Article
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 445, doi. 10.1002/ajmg.a.33820
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- Publication type:
- Article
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0299-x
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- Publication type:
- Article
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
- Published in:
- International Journal of Cancer, 2015, v. 136, n. 6, p. E578, doi. 10.1002/ijc.29215
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- Publication type:
- Article
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
- Published in:
- Molecular Medicine Reports, 2015, v. 12, n. 1, p. 1579, doi. 10.3892/mmr.2015.3486
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- Publication type:
- Article