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Select item 110098341.

Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

Anthony L. Guerrerio, Allyson Mateja, Marjohn Rasooly, Samara Levin, Alaina Magnani, Caeden Dempsey, Gretchen MacCarrick, Harry C. Dietz, Erica Brittain, Alison M. Boyce, Pamela A. Frischmeyer-Guerrerio

Genet Med. Author manuscript; available in PMC 2024 Apr 12.

Published in final edited form as: Genet Med. 2022 Feb; 24(2): 419–429. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.10.002

PMCID:: PMC11009834

Article PDF–734K

Select item 109477332.

SOFT syndrome with Kohlschutter–Tonz syndrome

SA Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar

J Postgrad Med. 2024 Jan-Mar; 70(1): 56–59. Published online 2023 Sep 7. doi: 10.4103/jpgm.jpgm_1001_22

PMCID:: PMC10947733

Article

Select item 105236973.

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi

BMC Med Genomics. 2023; 16: 226. Published online 2023 Sep 26. doi: 10.1186/s12920-023-01643-3

PMCID:: PMC10523697

Article PDF–1.1M

Select item 103640414.

Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial

Ignacio Arroyo-Carrera, María Solo de Zaldívar-Tristancho, Verónica D. García Navas-Núñez, Alba Ramajo-Polo, Marta Gutiérrez-Agujetas

Rev Neurol. 2023; 76(3): 111–115. Spanish. Published online 2023 Feb 1. doi: 10.33588/rn.7603.2022165

PMCID:: PMC10364041

Article PDF–791K

Select item 103196915.

RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication

Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian

Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y

Retraction in:: Neurogenetics. 2024; 25(1): 49.

PMCID:: PMC10319691

Article

Select item 94089846.

Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review

Merlin G. Butler, Waheeda A. Hossain, Jacob Steinle, Harry Gao, Eleina Cox, Yuxin Niu, May Quach, Olivia J. Veatch

Int J Mol Sci. 2022 Aug; 23(16): 9090. Published online 2022 Aug 13. doi: 10.3390/ijms23169090

PMCID:: PMC9408984

Article PDF–572K

Select item 92350237.

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E. Posey, James R. Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Lumaka

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 27.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 990–994. Published online 2020 Dec 29. doi: 10.1002/ajmg.a.62049

PMCID:: PMC9235023

Article PDF–606K

Select item 89953528.

Werner syndrome in a Lebanese family

Batoul Jaafar, Mona Nasrallah, Bianca Sievers, Junko Oshima, Davor Lessel

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

Published in final edited form as: Am J Med Genet A. 2022 May; 188(5): 1630–1634. Published online 2022 Jan 17. doi: 10.1002/ajmg.a.62654

PMCID:: PMC8995352

Article PDF–719K

Select item 86917139.

A giant left internal iliac artery aneurysm in a patient with Loeys–Dietz syndrome

Ivan I Skopin, Valerii S Arakelyan, Nickolai A Tchurikov, Andrei M Belyaev

Interact Cardiovasc Thorac Surg. 2021 Nov; 33(5): 832–833. Published online 2021 May 9. doi: 10.1093/icvts/ivab157

PMCID:: PMC8691713

Article PDF–171K

Select item 804992110.

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

Guglielmina Pepe, Betti Giusti, Stefania Colonna, Maria Pia Fugazzaro, Elena Sticchi, Rosina De Cario, Ada Kura, Elisa Pratelli, Daniela Melchiorre, Stefano Nistri

Intern Emerg Med. 2021; 16(3): 609–615. Published online 2020 Sep 19. doi: 10.1007/s11739-020-02458-1

PMCID:: PMC8049921

Article PDF–863K

Select item 796919611.

1例新生儿常染色体显性智力障碍21型病例报告

陈兰, 赫纹, 刘玲

Zhongguo Dang Dai Er Ke Za Zhi. 2021 Mar 15; 23(3): 306–309. Chinese. doi: 10.7499/j.issn.1008-8830.2010095

PMCID:: PMC7969196

Article PDF–1.3M

Select item 770552312.

Infantile presentation of 3q26.33-3q27.2 deletion syndrome

Renee Robilliard, Mustafa Caylan

BMJ Case Rep. 2020; 13(11): e233215. Published online 2020 Nov 30. doi: 10.1136/bcr-2019-233215

PMCID:: PMC7705523

Article PDF–1.5M

Select item 743785713.

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report

Alina Bogliş, Adriana S. Cosma, Florin Tripon, Claudia Bãnescu

Medicine (Baltimore) 2020 Aug 14; 99(33): e21632. Published online 2020 Aug 14. doi: 10.1097/MD.0000000000021632

PMCID:: PMC7437857

Article PDF–798K

Select item 725169314.

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 700408115.

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

Celia L Gregson, Dylan J. M. Bergen, Paul Leo, Richard B Sessions, Lawrie Wheeler, April Hartley, Scott Youlten, Peter I Croucher, Aideen M McInerney‐Leo, William Fraser, Jonathan CY Tang, Lisa Anderson, Mhairi Marshall, Leon Sergot, Lavinia Paternoster, George Davey Smith, The AOGC Consortium, Matthew A Brown, Chrissy Hammond, John P Kemp, Jon H Tobias, Emma L Duncan

J Bone Miner Res. 2020 Jan; 35(1): 92–105. Published online 2019 Nov 14. doi: 10.1002/jbmr.3875

PMCID:: PMC7004081

Article PDF–1.8M

Select item 669715316.

Rare FMR1 gene mutations causing fragile X syndrome: A review

Adam F. Sitzmann, Robert T. Hagelstrom, Flora Tassone, Randi J. Hagerman, Merlin G. Butler

Am J Med Genet A. Author manuscript; available in PMC 2019 Aug 15.

Published in final edited form as: Am J Med Genet A. 2018 Jan; 176(1): 11–18. Published online 2017 Nov 27. doi: 10.1002/ajmg.a.38504

PMCID:: PMC6697153

Article PDF–1.0M

Select item 629049017.

ERα PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study

P. A. Pontin, P. R. B. Nogara, F. C. P. Fonseca, C. Cesar Netto, K. C. Carvalho, J. M. Soares Junior, E. C. Baracat, T. D. Fernandes, N. Maffulli, M. C. L. Santos, A. L. Godoy-Santos

J Orthop Surg Res. 2018; 13: 316. Published online 2018 Dec 11. doi: 10.1186/s13018-018-1020-x

PMCID:: PMC6290490

Article PDF–360K

Select item 578973518.

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 552531419.

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report

Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li, Qiwei Guo

BMC Pediatr. 2017; 17: 175. Published online 2017 Jul 24. doi: 10.1186/s12887-017-0930-9

PMCID:: PMC5525314

Article PDF–4.7M

Select item 549503020.

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

Margot A. Cousin, Michael T. Zimmermann, Angela J. Mathison, Patrick R. Blackburn, Nicole J. Boczek, Gavin R. Oliver, Gwen A. Lomberk, Raul A. Urrutia, David R. Deyle, Eric W. Klee

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001727. doi: 10.1101/mcs.a001727

PMCID:: PMC5495030

Article PDF–1.7M

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