Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1999 1
2001 1
2002 2
2005 2
2006 2
2007 1
2009 1
2011 1
2012 1
2013 1
2014 1
2017 1
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
Ulnar Mammary syndrome and TBX3: expanding the phenotype.
Linden H, Williams R, King J, Blair E, Kini U. Linden H, et al. Am J Med Genet A. 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096. Am J Med Genet A. 2009. PMID: 19938096
We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, and cryptorchidism. ...
We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipp …
Ulnar-Mammary syndrome with TBX3 gene mutation in a Chinese family: A case report and literature review.
Peng N, Guo M, Jiang T. Peng N, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28;47(12):1769-1774. doi: 10.11817/j.issn.1672-7347.2022.220197. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36748390 Free PMC article. Review. Chinese, English.
Ulnar-Mammary syndrome (UMS) is a rare monogenic disorder caused by mutations of the TBX3 gene. ...When the diagnosis is unclear, genetic testing is helpful for auxiliary diagnosis. Ulnar-Mammary syndrome (UMS) is a rare monogenic disorde …
Ulnar-Mammary syndrome (UMS) is a rare monogenic disorder caused by mutations of the TBX3 gene. ...When the diagnosis i …
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.
Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. Wollnik B, et al. Ann Genet. 2002 Oct-Dec;45(4):213-7. doi: 10.1016/s0003-3995(02)01144-9. Ann Genet. 2002. PMID: 12668170
We present a large Turkish family with autosomal dominant inherited ulnar-mammary syndrome in which 10 affected family members, spanning three generations, were diagnosed. ...The truncated protein lacks almost all functional important parts of TBX3, most like …
We present a large Turkish family with autosomal dominant inherited ulnar-mammary syndrome in which 10 affected family …
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. ...
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apo …
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. ...
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. ...
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.
Kaplan BS, Bellah RD. Kaplan BS, et al. Am J Med Genet. 1999 Dec 22;87(5):426-9. Am J Med Genet. 1999. PMID: 10594882
The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. ...
The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual f …
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.
Brummelkamp TR, Kortlever RM, Lingbeek M, Trettel F, MacDonald ME, van Lohuizen M, Bernards R. Brummelkamp TR, et al. J Biol Chem. 2002 Feb 22;277(8):6567-72. doi: 10.1074/jbc.M110492200. Epub 2001 Dec 17. J Biol Chem. 2002. PMID: 11748239 Free article.
TBX-3 is a T-box gene, which is found mutated in the human developmental disorder Ulnar-Mammary Syndrome. We have shown that TBX-3 potently represses expression of both mouse p19(ARF) and human p14(ARF). We have also shown here that point mutants of TBX-3, wh …
TBX-3 is a T-box gene, which is found mutated in the human developmental disorder Ulnar-Mammary Syndrome. We have shown …
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. ...
We describe a family affected by Ulnar-Mammary syndrome (UMS) in which typical UMS traits (hypoplasia of the breast and …
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N. Tanteles GA, et al. Clin Dysmorphol. 2017 Apr;26(2):61-65. doi: 10.1097/MCD.0000000000000170. Clin Dysmorphol. 2017. PMID: 28145909
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. ...
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. ...
15 results