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Select item 178681.

Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome

Ming-liang He, Leng Wen, Christine E. Campbell, Jane Y. Wu, Yi Rao

Proc Natl Acad Sci U S A. 1999 Aug 31; 96(18): 10212–10217. doi: 10.1073/pnas.96.18.10212

Correction in:: Proc Natl Acad Sci U S A. 1999 Nov 9; 96(23): 13589.

PMCID:: PMC17868

Abstract Article PDF–220K

Select item 63008622.

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, Maria Teresa Bonati

Endocr Connect. 2018 Dec; 7(12): 1432–1441. Published online 2018 Nov 23. doi: 10.1530/EC-18-0486

PMCID:: PMC6300862

Abstract Article PDF–2.5M

Select item 33747543.

The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development

Reyna Deeya Ballim, Cathy Mendelsohn, Virginia E. Papaioannou, Sharon Prince

Mol Biol Cell. 2012 Jun 15; 23(12): 2362–2372. doi: 10.1091/mbc.E11-09-0790

PMCID:: PMC3374754

Abstract Article PDF–1.4M

Select item 51172274.

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3

Mary P. Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G. Bonnemann, Elazar Zelzer, Anne M. Moon, Gabrielle Kardon

Dis Model Mech. 2016 Nov 1; 9(11): 1257–1269. doi: 10.1242/dmm.025874

PMCID:: PMC5117227

Abstract Article

Select item 100205265.

Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome

Xiwen Zhang, Lifen Chen, Lin Li, Jingjing An, Qinyu He, Xuelei Zhang, Wenli Lu, Yuan Xiao, Zhiya Dong

Front Pediatr. 2023; 11: 1052931. Published online 2023 Mar 3. doi: 10.3389/fped.2023.1052931

PMCID:: PMC10020526

Abstract Article PDF–3.0M

Select item 94984346.

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti

Genes (Basel) 2022 Sep; 13(9): 1649. Published online 2022 Sep 14. doi: 10.3390/genes13091649

PMCID:: PMC9498434

Abstract Article PDF–747K

Select item 109302737.

TBX3基因突变致Ulnar-Mammary综合征1例家系报道并文献复习

彭宁, 郭敏, 蒋铁建

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28; 47(12): 1769–1774. Chinese. doi: 10.11817/j.issn.1672-7347.2022.220197

PMCID:: PMC10930273

Abstract Article PDF–992K

Select item 36994858.

Mouse Tbx3 Mutants Suggest Novel Molecular Mechanisms for Ulnar-Mammary Syndrome

Deborah U. Frank, Uchenna Emechebe, Kirk R. Thomas, Anne M. Moon

PLoS One. 2013; 8(7): e67841. Published online 2013 Jul 2. doi: 10.1371/journal.pone.0067841

PMCID:: PMC3699485

Abstract Article PDF–1.1M

Select item 13778989.

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

M Bamshad, T Le, W S Watkins, M E Dixon, B E Kramer, A D Roeder, J C Carey, S Root, A Schinzel, L Van Maldergem, R J Gardner, R C Lin, C E Seidman, J G Seidman, R Wallerstein, E Moran, R Sutphen, C E Campbell, L B Jorde

Am J Hum Genet. 1999 Jun; 64(6): 1550–1562. doi: 10.1086/302417

PMCID:: PMC1377898

Summary PDF–1.5M

Select item 396794810.

TBX3 Regulates Splicing In Vivo: A Novel Molecular Mechanism for Ulnar-Mammary Syndrome

Pavan Kumar P., Sarah Franklin, Uchenna Emechebe, Hao Hu, Barry Moore, Chris Lehman, Mark Yandell, Anne M. Moon

PLoS Genet. 2014 Mar; 10(3): e1004247. Published online 2014 Mar 27. doi: 10.1371/journal.pgen.1004247

PMCID:: PMC3967948

Abstract Article PDF–2.2M

Select item 756899711.

CCDC22基因变异导致Ritscher-Schinzel综合征1例

梁燕婷, 江蕙芸, 付华钰

Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1135–1137. Chinese. doi: 10.7499/j.issn.1008-8830.2005168

PMCID:: PMC7568997

Abstract Article PDF–1.6M

Select item 1099419212.

UMS-Rep: Unified modality-specific representation for efficient medical image analysis

Ghada Zamzmi, Sivaramakrishnan Rajaraman, Sameer Antani

Inform Med Unlocked. Author manuscript; available in PMC 2024 Apr 4.

Published in final edited form as: Inform Med Unlocked. 2021; 24: 100571. Published online 2021 Apr 20. doi: 10.1016/j.imu.2021.100571

PMCID:: PMC10994192

Abstract Article PDF–1.7M

Select item 424444013.

Mental health problems of undocumented migrants (UMs) in the Netherlands: a qualitative exploration of help-seeking behaviour and experiences with primary care

Erik Teunissen, Jamilah Sherally, Maria van den Muijsenbergh, Chris Dowrick, Evelyn van Weel-Baumgarten, Chris van Weel

BMJ Open. 2014; 4(11): e005738. Published online 2014 Nov 21. doi: 10.1136/bmjopen-2014-005738

PMCID:: PMC4244440

Abstract Article PDF–1016K

Select item 433638514.

A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus

Mehmet Nuri Konya, Muhsin Elmas, Sadık Emre Erginoğlu, Murat Yeşil

Int J Surg Case Rep. 2015; 7: 130–133. Published online 2014 Nov 6. doi: 10.1016/j.ijscr.2014.10.098

PMCID:: PMC4336385

Abstract Article PDF–1.6M

Select item 435954515.

The potential for using a Universal Medication Schedule (UMS) to improve adherence in patients taking multiple medications in the UK: a qualitative evaluation

Cassandra Kenning, Joanne Protheroe, Nicola Gray, Darren Ashcroft, Peter Bower

BMC Health Serv Res. 2015; 15: 94. Published online 2015 Mar 11. doi: 10.1186/s12913-015-0749-8

PMCID:: PMC4359545

Abstract Article PDF–391K

Select item 468952216.

Attitudes of Psychiatric Nurses about the Request for Euthanasia on the Basis of Unbearable Mental Suffering(UMS)

Marc De Hert, Liesbet Van Bos, Kim Sweers, Martien Wampers, Jan De Lepeleire, Christophe U. Correll

PLoS One. 2015; 10(12): e0144749. Published online 2015 Dec 23. doi: 10.1371/journal.pone.0144749

PMCID:: PMC4689522

Abstract Article PDF–211K

Select item 1018711417.

Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome

Michael D. Healy, Kerrie E. McNally, Rebeka Butkovič, Molly Chilton, Kohji Kato, Joanna Sacharz, Calum McConville, Edmund R.R. Moody, Shrestha Shaw, Vicente J. Planelles-Herrero, Sathish K.N. Yadav, Jennifer Ross, Ufuk Borucu, Catherine S. Palmer, Kai-En Chen, Tristan I. Croll, Ryan J. Hall, Nikeisha J. Caruana, Rajesh Ghai, Thi H.D. Nguyen, Kate J. Heesom, Shinji Saitoh, Imre Berger, Christiane Schaffitzel, Tom A. Williams, David A. Stroud, Emmanuel Derivery, Brett M. Collins, Peter J. Cullen

Cell. 2023 May 11; 186(10): 2219–2237.e29. doi: 10.1016/j.cell.2023.04.003

PMCID:: PMC10187114

Abstract Article PDF–18M

Select item 1008647418.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato

J Med Genet. 2023 Apr; 60(4): 359–367. Published online 2022 Sep 16. doi: 10.1136/jmg-2022-108602

PMCID:: PMC10086474

Abstract Article PDF–3.2M

Select item 710895719.

The roles and regulation of TBX3 in development and disease

Saif F. Khan, Victoria Damerell, Rehana Omar, Michelle Du Toit, Mohsin Khan, Hapiloe Mabaruti Maranyane, Mihlali Mlaza, Jenna Bleloch, Claire Bellis, Bianca D.B. Sahm, Jade Peres, K.N. ArulJothi, Sharon Prince

Gene. Author manuscript; available in PMC 2021 Feb 5.

Published in final edited form as: Gene. 2020 Feb 5; 726: 144223. Published online 2019 Oct 26. doi: 10.1016/j.gene.2019.144223

PMCID:: PMC7108957

Abstract Article PDF–1.0M

Select item 482557120.

The T-Box factor TBX3 is important in S-phase and is regulated by c-Myc and cyclin A-CDK2

Tarryn Willmer, Jade Peres, Shaheen Mowla, Amaal Abrahams, Sharon Prince

Cell Cycle. 2015; 14(19): 3173–3183. Published online 2015 Aug 12. doi: 10.1080/15384101.2015.1080398

PMCID:: PMC4825571

Abstract Article PDF–865K

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