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Select item 111358981.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

Adriana Amaral Carvalho, Renato Assis Machado, Célia Márcia Fernandes Maia, Luis Antônio Nogueira dos Santos, Daniella Reis Barbosa Martelli, Ricardo Della Coletta, Hercílio Martelli, Júnior

Rev Paul Pediatr. 2024; 42: e2022189. Published online 2024 May 27. doi: 10.1590/1984-0462/2024/42/2022189

PMCID:: PMC11135898

Article PDF–613K

Select item 109162412.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

Hum Genomics. 2024; 18: 23. Published online 2024 Mar 6. doi: 10.1186/s40246-024-00593-w

PMCID:: PMC10916241

Article PDF–1.9M

Select item 97330313.

Cystic angiomatosis in children: clinical experience and review of literature

Wen Chao Li, Li Liu, Zhen Dong Wang, Hui Chen, Guang Liu, Zhi Chun Feng

World J Surg Oncol. 2022; 20: 390. Published online 2022 Dec 9. doi: 10.1186/s12957-022-02864-z

PMCID:: PMC9733031

Article PDF–2.2M

Select item 93224844.

A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia

Yanli Zhang, Xiaohong Duan

Genes (Basel) 2022 Jul; 13(7): 1128. Published online 2022 Jun 23. doi: 10.3390/genes13071128

PMCID:: PMC9322484

Article PDF–1.2M

Select item 92393005.

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Sermporn THAWEESAPPHITHAK, Jirawat SAENGSIN, Wuttichart KAMOLVISIT, Thanakorn THEERAPANON, Thantrira PORNTAVEETUS, Vorasuk SHOTELERSUK

J Appl Oral Sci. 2022; 30: e20220028. Published online 2022 Jun 6. doi: 10.1590/1678-7757-2022-0028

PMCID:: PMC9239300

Article PDF–6.9M

Select item 91201136.

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

Lei Gong, Bekzod Odilov, Feng Han, Fuqiang Liu, Yujing Sun, Ningxin Zhang, Xiaolin Zuo, Jiaojiao Yang, Shouyu Wang, Xinguo Hou, Jianmin Ren

Genes Genomics. 2022; 44(6): 683–690. Published online 2022 Mar 2. doi: 10.1007/s13258-022-01229-w

PMCID:: PMC9120113

Article PDF–2.6M

Select item 85355627.

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics

Isabelle Jéru, Amira Nabil, Gehad El-Makkawy, Olivier Lascols, Corinne Vigouroux, Ebtesam Abdalla

Genes (Basel) 2021 Oct; 12(10): 1508. Published online 2021 Sep 26. doi: 10.3390/genes12101508

PMCID:: PMC8535562

Article PDF–1.4M

Select item 81919248.

Characterization of dental phenotype in patients with cleidocranial dysplasia using longitudinal data

Sang-Woon Ha, Yu-Jin Jung, Han-Sol Bae, Hyun-Mo Ryoo, Il-Sik Cho, Seung-Hak Baek

Angle Orthod. 2018 Jul; 88(4): 416–424. Published online 2018 Apr 17. doi: 10.2319/092617-647.1

PMCID:: PMC8191924

Article PDF–458K

Select item 69668129.

Cleidocranial dysplasia with growth hormone deficiency: a case report

Nozomi Takaki, Jun Mori, Satoshi Matsuo, Toshio Osamura, Toshimi Michigami

BMC Pediatr. 2020; 20: 19. Published online 2020 Jan 16. doi: 10.1186/s12887-020-1914-8

PMCID:: PMC6966812

Article PDF–1.1M

Select item 674773610.

Identification of RUNX2 variants associated with cleidocranial dysplasia

Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang, Xuefan Gu, Yongguo Yu

Hereditas. 2019; 156: 31. Published online 2019 Sep 16. doi: 10.1186/s41065-019-0107-7

PMCID:: PMC6747736

Article PDF–1.3M

Select item 674545511.

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

Article PDF–990K

Select item 645251712.

Cleidocranial dysplasia syndrome with epilepsy: a case report

Yimei Ma, Fumin Zhao, Dan Yu

BMC Pediatr. 2019; 19: 97. Published online 2019 Apr 8. doi: 10.1186/s12887-019-1472-0

PMCID:: PMC6452517

Article PDF–3.0M

Select item 611726413.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L. Wakeling

Eur J Hum Genet. 2018 Sep; 26(9): 1288–1293. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0166-7

PMCID:: PMC6117264

Article PDF–4.7M

Select item 610214914.

Enhancer of zeste homolog 2 (Ezh2) controls bone formation and cell cycle progression during osteogenesis in mice

Amel Dudakovic, Emily T. Camilleri, Christopher R. Paradise, Rebekah M. Samsonraj, Martina Gluscevic, Carlo Alberto Paggi, Dana L. Begun, Farzaneh Khani, Oksana Pichurin, Farah S. Ahmed, Ranya Elsayed, Mohammed Elsalanty, Meghan E. McGee-Lawrence, Marcel Karperien, Scott M. Riester, Roman Thaler, Jennifer J. Westendorf, Andre J. van Wijnen

J Biol Chem. 2018 Aug 17; 293(33): 12894–12907. Published online 2018 Jun 13. doi: 10.1074/jbc.RA118.002983

PMCID:: PMC6102149

Article PDF–4.0M

Select item 573144215.

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

Emily E. Miller, Gerson S. Kobayashi, Camila M. Musso, Miranda Allen, Felipe A.A. Ishiy, Luiz Carlos de Caires, Jr, Ernesto Goulart, Karina Griesi-Oliveira, Roseli M. Zechi-Ceide, Antonio Richieri-Costa, Debora R. Bertola, Maria Rita Passos-Bueno, Debra L. Silver

Hum Mol Genet. 2017 Jun 15; 26(12): 2177–2191. Published online 2017 Mar 2. doi: 10.1093/hmg/ddx078

PMCID:: PMC5731442

Article PDF–1.4M

Select item 553813816.

Clinical and Radiographic Delineation of Bent Bone Dysplasia-FGFR2 Type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-Shaped Phalanges

Deborah Krakow, Daniel H. Cohn, William R. Wilcox, Grace J. Noh, Leslie J. Raffel, Anna Sarukhanov, Margarita H. Ivanova, Moise Danielpour, Dorothy K. Grange, Alison M. Elliott, Jonathan A. Bernstein, David L. Rimoin, Amy E. Merrill, Ralph S. Lachman

Am J Med Genet A. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Am J Med Genet A. 2016 Oct; 170(10): 2652–2661. Published online 2016 May 30. doi: 10.1002/ajmg.a.37772