PMC Articles for MedGen (Select 116080) - PMC

Hyeonseong Woo, Bo Ryun Kim, Jin A. Yoon, Hyun Jung Han, Young Il Yoon, Seung U. Lee, Seon Cho, Yong Beom Shin, Hyun Jung Lee, Jee Hyun Suh, Jiwoon Lim, Jaewon Beom, Yulhyun Park, Ju Seok Ryu

Medicine (Baltimore) 2023 Oct 27; 102(43): e35696. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000035696

PMCID:: PMC10615394

Abstract Article PDF–721K

Select item 96268664.

Coxa valga and antetorta increases differences among different femoral version measurements: potential implications for derotational femoral osteotomy planning

Florian Schmaranzer, Malin K. Meier, Till D. Lerch, Andreas Hecker, Simon D. Steppacher, Eduardo N. Novais, Ata M. Kiapour

Bone Jt Open. 2022 Oct; 3(10): 759–766. Published online 2022 Oct 3. doi: 10.1302/2633-1462.310.BJO-2022-0102.R1

PMCID:: PMC9626866

Abstract Article PDF–1.4M

Select item 96692185.

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis

John J. DiGiovanna, Grant Randall, Alexandra Edelman, Rina Allawh, Michael Xiong, Deborah Tamura, Sikandar G. Khan, Elizabeth R. H. Rizza, James C. Reynolds, Scott M. Paul, Suvimol C. Hill, Kenneth H. Kraemer

Am J Med Genet A. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3448–3462. Published online 2022 Sep 14. doi: 10.1002/ajmg.a.62962

PMCID:: PMC9669218

Abstract Article PDF–1.6M

Select item 67087236.

A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report

Xianzuo Zhang, Haiyi Liang, Weilu Liu, Xu Li, Wenzhi Zhang, Xifu Shang

Medicine (Baltimore) 2019 Jul; 98(30): e16485. Published online 2019 Jul 26. doi: 10.1097/MD.0000000000016485

PMCID:: PMC6708723

Abstract Article PDF–601K

Select item 38258767.

Valgus Hip With High Antetorsion Causes Pain Through Posterior Extraarticular FAI

Klaus A. Siebenrock, Simon Damian Steppacher, Pascal Cyrill Haefeli, Joseph Michael Schwab, Moritz Tannast

Clin Orthop Relat Res. 2013 Dec; 471(12): 3774–3780. Published online 2013 Mar 6. doi: 10.1007/s11999-013-2895-9

PMCID:: PMC3825876

Abstract Article PDF–538K

Select item 48120058.

Q-angle in patellofemoral pain: relationship with dynamic knee valgus, hip abductor torque, pain and function

Gabriel Peixoto Leão Almeida, Ana Paula de Moura Campos Carvalho e Silva, Fábio Jorge Renovato França, Maurício Oliveira Magalhães, Thomaz Nogueira Burke, Amélia Pasqual Marques

Rev Bras Ortop. 2016 Mar-Apr; 51(2): 181–186. Published online 2016 Feb 9. doi: 10.1016/j.rboe.2016.01.010

PMCID:: PMC4812005

Abstract Article PDF–689K

Select item 101644899.

Concomitant valgus hip osteotomy in operative fixation of displaced proximal femoral neck fractures

Abdul Q. Khan, Madhav Chowdhry, Mohd K. A. Sherwani, Edward J. McPherson

Bone Jt Open. 2023 May; 4(5): 329–337. Published online 2023 May 8. doi: 10.1302/2633-1462.45.BJO-2023-0016.R1

PMCID:: PMC10164489

Abstract Article PDF–1.1M

Select item 847069010.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera

Genes (Basel) 2021 Sep; 12(9): 1406. Published online 2021 Sep 12. doi: 10.3390/genes12091406

PMCID:: PMC8470690

Abstract Article PDF–1.3M

Select item 617564311.

Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA

Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 18–37. Published online 2018 May 15. doi: 10.1016/j.ymgme.2018.05.004

PMCID:: PMC6175643

Abstract Article PDF–1.1M

Select item 790388112.

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Ximena Montenegro-Garreaud, Adam W. Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang, He Li, Tadahiro Mitani, Elena Kessler, Joy Jayaseelan, Hua Shen, Alper Gezdirici, Davut Pehlivan, Qingchang Meng, Jill A. Rosenfeld, Shalini N Jhangiani, Suneeta Madan-Khetarpal, Daryl A. Scott, Hugo Abarca-Barriga, Milana Trubnykova, Marie-Claude Gingras, Donna M. Muzny, Jennifer E. Posey, Pengfei Liu, James R. Lupski, Richard Gibbs

Hum Mutat. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Hum Mutat. 2020 Dec; 41(12): 2094–2104. Published online 2020 Oct 8. doi: 10.1002/humu.24118

PMCID:: PMC7903881

Abstract Article PDF–645K

Select item 743695113.

A family of Melnick-Needles syndrome: a case report

Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee

BMC Pediatr. 2020; 20: 391. Published online 2020 Aug 19. doi: 10.1186/s12887-020-02288-2

PMCID:: PMC7436951

Abstract Article PDF–947K

Select item 1052481614.

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family

Hamna Shahid, Nazish Shakoor, Anisa Bibi, Asma Saleem Qazi, Rida Fatima Saeed, Aqeela Nawaz, Sajid Malik, Sara Mumtaz

Yale J Biol Med. 2023 Sep; 96(3): 383–396. Published online 2023 Sep 29. doi: 10.59249/UTCP9818

PMCID:: PMC10524816

Abstract Article PDF–1.0M

Select item 176288715.

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

P W Allderdice, N Browne, D P Murphy

Am J Hum Genet. 1975 Nov; 27(6): 699–718.

PMCID:: PMC1762887

Summary Page Browse PDF–3.1M

Select item 674545516.

A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment

Emine Çamtosun, Ayşehan Akıncı, Emine Demiral, İbrahim Tekedereli, Ahmet Sığırcı

J Clin Res Pediatr Endocrinol. 2019 Sep; 11(3): 301–305. Published online 2019 Sep 3. doi: 10.4274/jcrpe.galenos.2018.2018.0211

PMCID:: PMC6745455

Abstract Article PDF–990K

Select item 488622117.

A Transgenic Rat for Specifically Inhibiting Adult Neurogenesis

Jason S. Snyder, Laura Grigereit, Alexandra Russo, Désirée R. Seib, Michelle Brewer, James Pickel, Heather A. Cameron

eNeuro. 2016 May-Jun; 3(3): ENEURO.0064-16.2016. Prepublished online 2016 May 11. Published online 2016 May 31. doi: 10.1523/ENEURO.0064-16.2016

PMCID:: PMC4886221

Abstract Article PDF–3.1M

Select item 658337218.

Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia

Ali Al Kaissi, Vladimir Kenis, Eugeniy Melchenko, Farid Ben Chehida, Rudolf Ganger, Klaus Klaushofer, Franz Grill

Orthop Surg. 2014 Nov; 6(4): 274–279. Published online 2014 Nov 27. doi: 10.1111/os.12146

PMCID:: PMC6583372

Abstract Article PDF–496K

Select item 650681019.

Correction of distal femoral valgus deformities with fixator-assisted plating: How accurate is the correction?

Güney Yılmaz, Sancar Bakırcıoğlu

Acta Orthop Traumatol Turc. 2019 Mar; 53(2): 100–105. Published online 2018 Dec 13. doi: 10.1016/j.aott.2018.11.002

PMCID:: PMC6506810

Abstract Article PDF–984K

Select item 704129820.

Modular stem in total hip arthroplasty for patients with trochanter valgus deformity: surgical technique and case series

Xiangpeng Kong, Wei Chai, Minzhi Yang, Alvin Ong, Jiying Chen, Yan Wang, Yonggang Zhou

BMC Musculoskelet Disord. 2020; 21: 124. Published online 2020 Feb 24. doi: 10.1186/s12891-020-3145-4

PMCID:: PMC7041298

Abstract Article PDF–3.9M

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