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Year Number of Results
1995 1
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1999 1
2002 1
2005 2
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2007 1
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2023 1
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15 results

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Page 1
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung ML, Chandra B, Kotlarek J, Melo M, Phillippi E, Justice CM, Musolf A, Boyadijev SA, Romitti PA, Darbro B, El-Shanti H. Tung ML, et al. Genes (Basel). 2022 Sep 14;13(9):1649. doi: 10.3390/genes13091649. Genes (Basel). 2022. PMID: 36140816 Free PMC article.
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. ...Next-generation sequencing revealed a novel, likely pathogenic, variant predicted …
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apo …
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.
Wang H, Gao Y, Qin L, Zhang M, Shi W, Feng Z, Guo L, Zhu B, Liao S. Wang H, et al. Orphanet J Rare Dis. 2023 May 7;18(1):107. doi: 10.1186/s13023-023-02705-6. Orphanet J Rare Dis. 2023. PMID: 37150818 Free PMC article.
RESULTS: A novel heterozygous mutation of the SETBP1 gene (c.1724_1727del, p.D575Vfs*4) was found in the patient and the fetus and the mutation was predicted to result in a truncated protein. Reduced SETBP1 expression was associated with SETBP1-HD. ...
RESULTS: A novel heterozygous mutation of the SETBP1 gene (c.1724_1727del, p.D575Vfs*4) was found in the patient and the fetus and the mutat …
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. ...We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the de …
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. ...We suggest that the …
Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.
Frank DU, Emechebe U, Thomas KR, Moon AM. Frank DU, et al. PLoS One. 2013 Jul 2;8(7):e67841. doi: 10.1371/journal.pone.0067841. Print 2013. PLoS One. 2013. PMID: 23844108 Free PMC article.
The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome. Efforts to understand how altered TBX3 dosage and function disrupt the development of numerous structures have been hampered by embryo …
The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome …
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.
Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. Slavotinek AM, et al. Am J Med Genet A. 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900. Am J Med Genet A. 2005. PMID: 16114047
Mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in ADULT syndrome....
Mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. …
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB. Bamshad M, et al. Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311. Nat Genet. 1997. PMID: 9207801
Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. ...Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5, a related and linked gene, …
Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. .. …
A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB. Bamshad M, et al. Hum Mol Genet. 1995 Oct;4(10):1973-7. doi: 10.1093/hmg/4.10.1973. Hum Mol Genet. 1995. PMID: 8595424
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies. We report the mapping …
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplicat …
Genetic analysis of the TBX3 gene promoter in ventricular septal defects.
Chen D, Qiao Y, Meng H, Pang S, Huang W, Zhang H, Yan B. Chen D, et al. Gene. 2013 Jan 10;512(2):185-8. doi: 10.1016/j.gene.2012.10.066. Epub 2012 Oct 29. Gene. 2013. PMID: 23116943 Clinical Trial.
TBX3 represses chamber myocardial gene expression. Mutations in TBX3 gene have been associated to ulnar-mammary syndrome with multiple developmental defects, including cardiac defects. ...Two other variants were found only in controls. These variants, which w …
TBX3 represses chamber myocardial gene expression. Mutations in TBX3 gene have been associated to ulnar-mammary syndrome …
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.
Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB. Bamshad M, et al. Am J Hum Genet. 1999 Jun;64(6):1550-62. doi: 10.1086/302417. Am J Hum Genet. 1999. PMID: 10330342 Free PMC article.
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. ...The subsequent cloning of new TBX3 cDNAs allowed us to complete the characterization of TBX3 and to identify alternatively transcri …
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital develop …
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.
Meneghini V, Odent S, Platonova N, Egeo A, Merlo GR. Meneghini V, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):151-8. doi: 10.1016/j.ejmg.2005.04.021. Epub 2005 Jun 22. Eur J Med Genet. 2006. PMID: 16530712 Review.
We describe a family affected by Ulnar-Mammary syndrome (UMS) in which typical UMS traits (hypoplasia of the breast and axillary hair, upper limbs and genital defects) are present together with cardiac malformations and pulmonary stenosis. ...Recently the exp …
We describe a family affected by Ulnar-Mammary syndrome (UMS) in which typical UMS traits (hypoplasia of the breast and …
15 results