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Items: 14

Select item 39780061.

Identification of Duplication Downstream of BMP2 in a Chinese Family with Brachydactyly Type A2 (BDA2)

Xudong Liu, Linghan Gao, Aman Zhao, Rui Zhang, Baohu Ji, Lei Wang, Yonglan Zheng, Bingfang Zeng, Robert K. Valenzuela, Lin He, Jie Ma

PLoS One. 2014; 9(4): e94201. Published online 2014 Apr 7. doi: 10.1371/journal.pone.0094201

PMCID:: PMC3978006

Article PDF–814K

Select item 26679732.

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos

Am J Hum Genet. 2009 Apr 10; 84(4): 483–492. doi: 10.1016/j.ajhg.2009.03.001

PMCID:: PMC2667973

Article PDF–990K

Select item 25632473.

A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2

K W Kjaer, H Eiberg, L Hansen, C B van der Hagen, K Rosendahl, N Tommerup, S Mundlos

J Med Genet. 2006 Mar; 43(3): 225–231. Published online 2005 Jul 13. doi: 10.1136/jmg.2005.034058

PMCID:: PMC2563247

Article PDF–1.2M

Select item 11903744.

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Petra Seemann, Raphaela Schwappacher, Klaus W. Kjaer, Deborah Krakow, Katarina Lehmann, Katherine Dawson, Sigmar Stricker, Jens Pohl, Frank Plöger, Eike Staub, Joachim Nickel, Walter Sebald, Petra Knaus, Stefan Mundlos

J Clin Invest. 2005 Sep 1; 115(9): 2373–2381. Published online 2005 Aug 25. doi: 10.1172/JCI25118

PMCID:: PMC1190374

Article PDF–998K

Select item 2187495.

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Katarina Lehmann, Petra Seemann, Sigmar Stricker, Marai Sammar, Birgit Meyer, Katrin Süring, Frank Majewski, Sigrid Tinschert, Karl-Heinz Grzeschik, Dietmar Müller, Petra Knaus, Peter Nürnberg, Stefan Mundlos

Proc Natl Acad Sci U S A. 2003 Oct 14; 100(21): 12277–12282. Published online 2003 Oct 1. doi: 10.1073/pnas.2133476100

PMCID:: PMC218749

Article PDF–498K

Select item 81041576.

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka

Mol Genet Genomic Med. 2021 Mar; 9(3): e1594. Published online 2021 Jan 24. doi: 10.1002/mgg3.1594

PMCID:: PMC8104157

Article PDF–1.0M

Select item 40232047.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann

Eur J Hum Genet. 2014 Jun; 22(6): 726–733. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.222

PMCID:: PMC4023204

Article PDF–2.2M

Select item 17360428.

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies

O Demirhan, S Turkmen, G Schwabe, S Soyupak, E Akgul, D Tastemir, D Karahan, S Mundlos, K Lehmann

J Med Genet. 2005 Apr; 42(4): 314–317. doi: 10.1136/jmg.2004.023564

PMCID:: PMC1736042

Summary PDF–129K

Select item 47952029.

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill, Dennis E Bulman

Eur J Hum Genet. 2015 Dec; 23(12): 1640–1645. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.38

PMCID:: PMC4795202

Article PDF–3.6M

Select item 888708510.

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

Guangquan Chen, Shiyi Xiong, Gang Zou, Fengyu Wu, Xiaoxing Qu, Salem Alawbathani, Luming Sun

Mol Cytogenet. 2022; 15: 6. Published online 2022 Feb 28. doi: 10.1186/s13039-022-00584-3

PMCID:: PMC8887085

Article PDF–1.4M

Select item 822444411.

Thermal and Humidity Stability of Mixed Spacer Cations 2D Perovskite Solar Cells

Huayang Yu, Yulin Xie, Jia Zhang, Jiashun Duan, Xu Chen, Yudong Liang, Kai Wang, Ling Xu

Adv Sci (Weinh) 2021 Jun; 8(12): 2004510. Published online 2021 May 6. doi: 10.1002/advs.202004510

Correction in:: Adv Sci (Weinh). 2022 Apr; 9(11): 2201367.

PMCID:: PMC8224444

Article PDF–3.9M

Select item 709032612.

Amphiphilic Oxo-Bridged Ruthenium “Green Dimer” for Water Oxidation

Qing-Qing Yang, Xin Jiang, Bing Yang, Yang Wang, Chen-Ho Tung, Li-Zhu Wu

iScience. 2020 Mar 27; 23(3): 100969. Published online 2020 Mar 8. doi: 10.1016/j.isci.2020.100969

PMCID:: PMC7090326

Article PDF–4.2M

Select item 300574813.

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

Tamar Lubell, Maria Garzon, Kwame Anyane−Yeboa, Bina Shah

J Clin Res Pediatr Endocrinol. 2009 Sep; 1(5): 244–247. Published online 2009 Aug 6. doi: 10.4274/jcrpe.v1i5.244

PMCID:: PMC3005748

Article PDF–133K

Select item 299736914.

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Yun Li, Kathrin Laue, Samia Temtamy, Mona Aglan, L. Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma L. Wakeling, Oliver W. Quarrell, Ingelore Baessmann, Matthew B. Lanktree, Mustafa Yilmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloglu, Matthias Hammerschmidt, Bernd Wollnik

Am J Hum Genet. 2010 Dec 10; 87(6): 757–767. doi: 10.1016/j.ajhg.2010.10.003