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Items: 1 to 20 of 21

1.
Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
J Clin Res Pediatr Endocrinol. 2018 Sep; 10(3): 256–263. Published online 2018 Jul 31. doi: 10.4274/jcrpe.5119
PMCID:
PMC6083464
AbstractArticlePDF–281K
2.
A family with diaphyseal aclasis and peripheral dysostosis.
A P Brooks, R Wynne-Davies
J Med Genet. 1980 Aug; 17(4): 277–280. doi: 10.1136/jmg.17.4.277
PMCID:
PMC1048569
SummaryPage BrowsePDF–1.3M
3.
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
C I Phillips, R Wynne-Davies, N L Stokoe, M Newton
J Med Genet. 1981 Feb; 18(1): 46–49. doi: 10.1136/jmg.18.1.46
PMCID:
PMC1048657
SummaryPage BrowsePDF–1.2M
4.
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles
C Armour, D Bulman, A Hunter
J Med Genet. 2000 Apr; 37(4): 292–296. doi: 10.1136/jmg.37.4.292
PMCID:
PMC1734558
SummaryPDF–200K
5.
Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
Eva Klopocki, Bianca P. Hennig, Katarina Dathe, Randi Koll, Thomy de Ravel, Emiel Baten, Eveline Blom, Yves Gillerot, Johannes F.W. Weigel, Gabriele Krüger, Olaf Hiort, Petra Seemann, Stefan Mundlos
Am J Hum Genet. 2010 Mar 12; 86(3): 434–439. doi: 10.1016/j.ajhg.2010.01.023
PMCID:
PMC2833367
AbstractArticlePDF–492K
6.
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska
BMC Med Genet. 2012; 13: 4. Published online 2012 Jan 10. doi: 10.1186/1471-2350-13-4
PMCID:
PMC3278352
AbstractArticlePDF–323K
7.
Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong
Ann Lab Med. 2013 Mar; 33(2): 150–152. Published online 2013 Feb 21. doi: 10.3343/alm.2013.33.2.150
PMCID:
PMC3589643
AbstractArticlePDF–474K
8.
The orthopaedic aspects of multiple epiphyseal dysplasia
A. Sebik, F. Sebik, E. Kutluay, F. Kuyurtar, Y. Ademoğlu
Int Orthop. 1998 Dec; 22(6): 417–421. doi: 10.1007/s002640050291
PMCID:
PMC3619669
SummaryPDF–176K
9.
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez, Jacques Puechberty, Anouck Schneider, Manon Girard, Patrick Edery, Patricia Bretonnes, Jérôme Cottalorda, Geneviève Lefort, Claire Jeandel, Pierre Sarda, David Genevieve
Eur J Hum Genet. 2014 Jan; 22(1): 136–139. Published online 2013 Apr 10. doi: 10.1038/ejhg.2013.56
PMCID:
PMC3865400
AbstractArticlePDF–1.2M
10.
Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities
Maria Eugenia Teves, Gobalakrishnan Sundaresan, David J. Cohen, Sharon L. Hyzy, Illya Kajan, Melissa Maczis, Zhibing Zhang, Richard M. Costanzo, Jamal Zweit, Zvi Schwartz, Barbara D. Boyan, Jerome F. Strauss, III
PLoS One. 2015; 10(5): e0125936. Published online 2015 May 27. doi: 10.1371/journal.pone.0125936
PMCID:
PMC4446355
AbstractArticlePDF–2.4M
11.
A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B
Monica Reyes, Anara Karaca, Murat Bastepe, Nese Ersoz Gulcelik, Harald Jüppner
Bone. Author manuscript; available in PMC 2018 May 10.
Published in final edited form as: Bone. 2017 Oct; 103: 281–286. Published online 2017 Jul 12. doi: 10.1016/j.bone.2017.07.013
PMCID:
PMC5943703
AbstractArticlePDF–1.0M
12.
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
AbstractArticle
13.
Limb specific Acvr1‐knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)
Laura Hildebrand, Mareen Schmidt‐von Kegler, Maria Walther, Petra Seemann, Katja Stange
Dev Dyn. 2019 May; 248(5): 396–403. Published online 2019 Mar 25. doi: 10.1002/dvdy.24
PMCID:
PMC6593811
AbstractArticlePDF–4.5M
14.
A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals
Monica Reyes, Bert Bravenboer, Harald Jüppner
J Bone Miner Res. Author manuscript; available in PMC 2019 Jul 18.
Published in final edited form as: J Bone Miner Res. 2019 Mar; 34(3): 482–489. Published online 2019 Jan 2. doi: 10.1002/jbmr.3628
PMCID:
PMC6637419
AbstractArticlePDF–777K
15.
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
Jia Huang, Hong-Yan Liu, Rong-Rong Wang, Hai Xiao, Dong Wu, Tao Li, Ying-Hai Jiang, Xue Zhang
Chin Med J (Engl) 2019 Jul 20; 132(14): 1681–1688. Published online 2019 Jul 20. doi: 10.1097/CM9.0000000000000327
PMCID:
PMC6759105
AbstractArticlePDF–917K
16.
Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause
Monica Reyes, Caroline Silve, Harald Jüppner
Exp Clin Endocrinol Diabetes. Author manuscript; available in PMC 2021 Mar 11.
Published in final edited form as: Exp Clin Endocrinol Diabetes. 2020 Oct; 128(10): 681–686. Published online 2019 Dec 11. doi: 10.1055/a-1047-0334
PMCID:
PMC7950720
AbstractArticlePDF–471K
17.
Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report
Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou
Ital J Pediatr. 2022; 48: 123. Published online 2022 Jul 23. doi: 10.1186/s13052-022-01322-6
PMCID:
PMC9308320
AbstractArticlePDF–1.0M
18.
Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report
Qiuya Li, Fan Bai, Shanlin Chen
Orthop Surg. 2022 Sep; 14(9): 2386–2390. Published online 2022 Jul 12. doi: 10.1111/os.13383
PMCID:
PMC9483038
AbstractArticlePDF–2.5M
19.
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
AbstractArticlePDF–2.0M
20.
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
Jian Sun, Nian Yang, Zhengquan Xu, Hongbo Cheng, Xiangxin Zhang
Mol Genet Genomic Med. 2024 Feb; 12(2): e2393. Published online 2024 Feb 5. doi: 10.1002/mgg3.2393
PMCID:
PMC10844838
AbstractArticlePDF–2.0M

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