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Items: 11

Select item 100394541.

Diagnostic yield of exome sequencing in congenital vertical talus

Naeimeh Tayebi, Wu-Lin Charng, Patricia I. Dickson, Matthew B. Dobbs, Christina A. Gurnett

Eur J Med Genet. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104514. Published online 2022 Apr 27. doi: 10.1016/j.ejmg.2022.104514

PMCID:: PMC10039454

Article PDF–317K

Select item 94028382.

Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome

David M. Sherer, Vicky Hsieh, Freeda Granderson, Hakeem Yusuf, Mudar Dalloul

J Ultrasound. 2022 Sep; 25(3): 645–647. Published online 2022 Jan 10. doi: 10.1007/s40477-021-00638-z

PMCID:: PMC9402838

Article PDF–495K

Select item 72516933.

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia

Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhihong Wu, Nan Wu

BMC Med Genet. 2020; 21: 115. Published online 2020 May 27. doi: 10.1186/s12881-020-01040-y

PMCID:: PMC7251693

Article PDF–3.3M

Select item 57897354.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz

BMC Med Genet. 2018; 19: 18. Published online 2018 Jan 30. doi: 10.1186/s12881-018-0531-y

PMCID:: PMC5789735

Article PDF–3.2M

Select item 54063475.

The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research

Matthew B. Dobbs, Christina A. Gurnett

Clin Orthop Relat Res. 2017 Jun; 475(6): 1716–1725. Published online 2017 Feb 24. doi: 10.1007/s11999-017-5290-0

PMCID:: PMC5406347

Article PDF–1.2M

Select item 49559426.

Deletions of 5’ HOXC genes are associated with lower extremity malformations including clubfoot and vertical talus

David M. Alvarado, Kevin McCall, Jacqueline T. Hecht, Matthew B. Dobbs, Christina A. Gurnett

J Med Genet. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: J Med Genet. 2016 Apr; 53(4): 250–255. Published online 2016 Jan 4. doi: 10.1136/jmedgenet-2015-103505

PMCID:: PMC4955942

Article PDF–1.4M

Select item 39958017.

Serum prolidase activity in benign joint hypermobility syndrome

Serda Em, Demet Ucar, Pelin Oktayoglu, Mehtap Bozkurt, Mehmet Caglayan, Ismail Yıldız, Osman Evliyaoglu, Kemal Nas

BMC Musculoskelet Disord. 2014; 15: 75. Published online 2014 Mar 11. doi: 10.1186/1471-2474-15-75

PMCID:: PMC3995801

Article PDF–174K

Select item 32343818.

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Ilse Feenstra, Lisenka E.L.M. Vissers, Ronald J.E. Pennings, Willy Nillessen, Rolph Pfundt, Henricus P. Kunst, Ronald J. Admiraal, Joris A. Veltman, Conny M.A. van Ravenswaaij-Arts, Han G. Brunner, Cor W.R.J. Cremers

Am J Hum Genet. 2011 Dec 9; 89(6): 813–819. doi: 10.1016/j.ajhg.2011.11.008