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Select item 35326041.

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki

Clin Genet. 2012 Dec; 82(6): 514–520. Published online 2012 Jan 30. doi: 10.1111/j.1399-0004.2011.01831.x

PMCID:: PMC3532604

Abstract Article PDF–643K

Select item 3791962.

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance

Am J Hum Genet. 2002 Sep; 71(3): 618–624. Published online 2002 Jun 27. doi: 10.1086/342067

PMCID:: PMC379196

Abstract Article PDF–423K

Select item 587333.

Human disease-causing NOG missense mutations: Effects on noggin secretion, dimer formation, and bone morphogenetic protein binding

Jose Marcelino, Christopher M. Sciortino, Michael F. Romero, Lynn M. Ulatowski, R. Tracy Ballock, Aris N. Economides, Peter M. Eimon, Richard M. Harland, Matthew L. Warman

Proc Natl Acad Sci U S A. 2001 Sep 25; 98(20): 11353–11358. Published online 2001 Sep 18. doi: 10.1073/pnas.201367598

PMCID:: PMC58733

Abstract Article PDF–325K

Select item 90346784.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

Zhao Zhang, Yu Lu, Jing‐Yuan Cao, Li Wang, Lin‐Ke Li, Chao Wang, Xuan Ye, Yi‐Ming Ji, Lin‐Yi Tu, Yi Sun

Mol Genet Genomic Med. 2022 May; 10(5): e1933. Published online 2022 Mar 25. doi: 10.1002/mgg3.1933

PMCID:: PMC9034678

Abstract Article PDF–2.3M

Select item 83770055.

BMP antagonists in tissue development and disease

Annkatrin Correns, Laura-Marie A. Zimmermann, Clair Baldock, Gerhard Sengle

Matrix Biol Plus. 2021 Aug; 11: 100071. Published online 2021 Jun 11. doi: 10.1016/j.mbplus.2021.100071

PMCID:: PMC8377005

Abstract Article PDF–1.4M

Select item 107676126.

A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review

Yadong Fu, Yueyun Zhou, Qing'e Zhang, Jingjing Dong, Jianli Zheng, Min Li, Jianbing Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2319. Published online 2023 Nov 27. doi: 10.1002/mgg3.2319

PMCID:: PMC10767612

Abstract Article PDF–2.0M

Select item 104072387.

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics

Congshan Jiang, Yanmin Zhang

Expert Rev Mol Med. 2023; 25: e17. Published online 2023 May 3. doi: 10.1017/erm.2023.11

PMCID:: PMC10407238

Abstract Article PDF–580K

Select item 94808778.

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function

Shuting Chen, Anand Venkatesan, Yong Qi Lin, Jing Xie, Gregory Neely, Swati Banerjee, Manzoor A. Bhat

J Neurosci. 2022 Sep 14; 42(37): 7016–7030. doi: 10.1523/JNEUROSCI.0442-22.2022

PMCID:: PMC9480877

Abstract Article PDF–5.3M

Select item 94467709.

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report

Jiaqi Shao, Yue Liu, Shuyang Zhao, Weisheng Sun, Jie Zhan, Lihua Cao

BMC Pediatr. 2022; 22: 528. Published online 2022 Sep 5. doi: 10.1186/s12887-022-03564-z

PMCID:: PMC9446770

Abstract Article PDF–1.5M

Select item 848604210.

Genetic heterogeneity and core clinical features of NOG-related-symphalangism spectrum disorder

Ryan J. Carlson, Alicia Quesnel, Dawson Wells, Zippora Brownstein, Dror Gilony, Suleyman Gulsuner, Kathleen A. Leppig, Karen B. Avraham, Mary-Claire King, Tom Walsh, Jay Rubinstein

Otol Neurotol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Otol Neurotol. 2021 Sep 1; 42(8): e1143–e1151. doi: 10.1097/MAO.0000000000003176

PMCID:: PMC8486042

Abstract Article PDF–1.2M

Select item 814242811.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

J Med Genet. 2021 Jun; 58(6): 362–368. Published online 2020 Jun 26. doi: 10.1136/jmedgenet-2020-106948

PMCID:: PMC8142428

Abstract Article PDF–580K

Select item 773326512.

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation

Rong Yu, Hongqun Jiang, Huihuang Liao, Wugen Luo

BMC Med Genomics. 2020; 13: 187. Published online 2020 Dec 11. doi: 10.1186/s12920-020-00843-5

PMCID:: PMC7733265

Abstract Article PDF–1.4M

Select item 668524313.

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

Gara Samara Brajadenta, Ariestya Indah Permata Sari, Donny Nauphar, Tiar Masykuroh Pratamawati, Vincent Thoreau

J Med Case Rep. 2019; 13: 244. Published online 2019 Aug 7. doi: 10.1186/s13256-019-2173-x

PMCID:: PMC6685243

Abstract Article PDF–4.8M

Select item 659021514.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Matthias Rath, Stefanie Spiegler, Tim M. Strom, Johannes Trenkler, Peter Michael Kroisel, Ute Felbor

Am J Med Genet A. 2019 Feb; 179(2): 295–299. Published online 2018 Dec 17. doi: 10.1002/ajmg.a.60700

PMCID:: PMC6590215

Abstract Article PDF–824K

Select item 655733115.

Tarsal–carpal coalition syndrome: importance of early diagnosis

Gloria Tze Yan Lau, Gayatri Athalye-Jape, Natasha Amery

BMJ Case Rep. 2019; 12(6): e229391. Published online 2019 Jun 6. doi: 10.1136/bcr-2019-229391

PMCID:: PMC6557331

Abstract Article PDF–1.9M

Select item 634955116.

A requirement for Fgfr2 in middle ear development

Diana Rigueur, Ryan R. Roberts, Lauren Bobzin, Amy E. Merrill

Genesis. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genesis. 2019 Jan; 57(1): e23252. Published online 2018 Oct 4. doi: 10.1002/dvg.23252

PMCID:: PMC6349551

Abstract Article PDF–4.4M

Select item 597394817.

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility

Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun

Eur J Hum Genet. 2018 Jun; 26(6): 876–885. Published online 2018 Mar 26. doi: 10.1038/s41431-018-0121-7

PMCID:: PMC5973948

Abstract Article PDF–1.4M

Select item 584632618.

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Tara L. Wenger, John Dahl, Elizabeth J. Bhoj, Anna Rosen, Donna McDonald-McGinn, Elaine Zackai, Ian Jacobs, Carrie L. Heike, Anne Hing, Avni Santani, Andrew F. Inglis, Kathleen C.Y. Sie, Michael Cunningham, Jonathan Perkins

Genet Med. Author manuscript; available in PMC 2018 Mar 12.

Published in final edited form as: Genet Med. 2017 Jan; 19(1): 62–68. Published online 2016 May 26. doi: 10.1038/gim.2016.60