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Items: 1 to 20 of 42

1.
Type 1 diabetes in a patient with Ellis-van Creveld syndrome
Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin
Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009
PMCID:
PMC10906694
ArticlePDF–406K
2.
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outi Mäkitie
Genes (Basel) 2023 Apr; 14(4): 869. Published online 2023 Apr 5. doi: 10.3390/genes14040869
PMCID:
PMC10137575
ArticlePDF–4.2M
3.
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana
Genes (Basel) 2023 Jan; 14(1): 84. Published online 2022 Dec 27. doi: 10.3390/genes14010084
PMCID:
PMC9858533
ArticlePDF–2.0M
4.
A review of polydactyly and its inheritance: Connecting the dots
Dalal K Bubshait
Medicine (Baltimore) 2022 Dec 16; 101(50): e32060. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032060
PMCID:
PMC9771235
ArticlePDF–992K
5.
Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A
Yanyi Yao, Shan Deng, Feng Zhu
Genes (Basel) 2022 Jul; 13(7): 1230. Published online 2022 Jul 11. doi: 10.3390/genes13071230
PMCID:
PMC9316509
ArticlePDF–16M
6.
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly
Yusi Wang, Xuguang Hao, Xueyuan Jia, Wei Ji, Shuai Yuan, Estelle Judith Abla Gnamey, Min Huang, Lidan Xu, Xuelong Zhang, Jing Bai, Wenjing Sun, Songbin Fu, Yong Liu, Jie Wu
Mol Genet Genomic Med. 2022 Jul; 10(7): e1968. Published online 2022 May 12. doi: 10.1002/mgg3.1968
PMCID:
PMC9266609
ArticlePDF–4.0M
7.
Whole‐exome sequencing identified novel variants in CPLANE1 that causes oral‐facial‐digital syndrome Ⅵ by inducing primary cilia abnormality
Wen Qian, Xinlei Liu, Zhengrong Wang, Yongjie Xu, Jingzhi Zhang, Haizhi Li, Qiang Zhong, Chengcheng Li, Liying Zhu, Zunlun Zhou, Wei Pan
J Cell Mol Med. 2022 Jun; 26(11): 3213–3222. Published online 2022 May 18. doi: 10.1111/jcmm.17326
PMCID:
PMC9170817
ArticlePDF–3.9M
8.
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
Midori Awazu, Mamiko Yamada, Nariaki Asada, Akinori Hashiguchi, Kenjiro Kosaki, Kazuya Matsumura
CEN Case Rep. 2022 Feb; 11(1): 116–119. Published online 2021 Aug 25. doi: 10.1007/s13730-021-00640-8
PMCID:
PMC8811092
ArticlePDF–1.0M
9.
Genetic basis for an evolutionary shift from ancestral preaxial to postaxial limb polarity in non-urodele vertebrates
Anna Trofka, Bau-Lin Huang, Jianjian Zhu, William F Heinz, Valentin Magidson, Yuki Shibata, Yun-Bo Shi, Basile Tarchini, H Scott Stadler, Mirindi Kabangu, Nour W Al Haj Baddar, S. Randal Voss, Susan Mackem
Curr Biol. Author manuscript; available in PMC 2022 Nov 22.
Published in final edited form as: Curr Biol. 2021 Nov 22; 31(22): 4923–4934.e5. Published online 2021 Oct 4. doi: 10.1016/j.cub.2021.09.010
PMCID:
PMC8612998
ArticlePDF–2.7M
10.
Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations
Laura Florea, Lavinia Caba, Eusebiu Vlad Gorduza
Genes (Basel) 2021 Sep; 12(9): 1353. Published online 2021 Aug 29. doi: 10.3390/genes12091353
PMCID:
PMC8465569
ArticlePDF–1.0M
11.
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
ArticlePDF–580K
12.
Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis
Parminder Kaur, Chakshu Chaudhry, Harsha Neelam, Inusha Panigrahi
BMJ Case Rep. 2021; 14(1): e236325. Published online 2021 Jan 28. doi: 10.1136/bcr-2020-236325
PMCID:
PMC7845671
ArticlePDF–565K
13.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Adrian Palencia-Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta S. Kristiansen, Mahmoud Y. Issa, Mennat I. Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Aia E. Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier-Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Victor L. Ruiz-Perez
Am J Hum Genet. 2020 Nov 5; 107(5): 977–988. Published online 2020 Oct 14. doi: 10.1016/j.ajhg.2020.09.005
PMCID:
PMC7675002
ArticlePDF–3.0M
14.
Two novel TCTN2 mutations cause Meckel–Gruber syndrome
Manli Zhang, Zhijie Chang, Yaping Tian, Longxia Wang, Yanping Lu
J Hum Genet. 2020; 65(11): 1039–1043. Published online 2020 Jul 12. doi: 10.1038/s10038-020-0804-0
PMCID:
PMC7527272
ArticlePDF–1.6M
15.
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek
J Clin Res Pediatr Endocrinol. 2020 Sep; 12(3): 319–328. Published online 2020 Sep 2. doi: 10.4274/jcrpe.galenos.2019.2019.0142
PMCID:
PMC7499131
ArticlePDF–664K
16.
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
Cathrine Jespersgaard, Amalie Brunbjerg Hey, Tomas Ilginis, Tina Duelund Hjortshøj, Mingyan Fang, Mette Bertelsen, Niels Bech, Hanne Jensen, Lasse Jonsgaard Larsen, Zeynep Tümer, Thomas Rosenberg, Karen Brøndum-Nielsen, Lisbeth Birk Møller, Karen Grønskov
Invest Ophthalmol Vis Sci. 2020 Feb; 61(2): 29. Published online 2020 Feb 21. doi: 10.1167/iovs.61.2.29
PMCID:
PMC7326575
ArticlePDF–1.2M
17.
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report
Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai
BMC Med Genet. 2019; 20: 174. Published online 2019 Nov 9. doi: 10.1186/s12881-019-0889-5
PMCID:
PMC6842497
ArticlePDF–1.0M
18.
Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree
Baowen Cheng, Yongli Dong, Li He, Wenru Tang, Haijing Yu, Jing Lu, Lin Xu, Bingrong Zheng, Kaiyuan Li, Chunjie Xiao
J Clin Lab Anal. 2006; 20(4): 133–138. Published online 2006 Jul 27. doi: 10.1002/jcla.20121
PMCID:
PMC6807395
ArticlePDF–210K
19.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, Shabir Hussain, Imen Chakchouk, Khurram Liaqat, Anushree Acharya, Naveed Wasif, Regie Lyn P. Santos-Cortez, Saadullah Khan, Abdul Aziz, Kwanghyuk Lee, Julien Couthouis, Denise Horn, Bjørt K. Kragesteen, Malte Spielmann, Holger Thiele, Deborah A. Nickerson, Michael J. Bamshad, Aaron D. Gitler, Jamil Ahmad, Muhammad Ansar, Guntram Borck, Wasim Ahmad, Suzanne M. Leal
Hum Genet. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Hum Genet. 2019 Jun; 138(6): 593–600. Published online 2019 Apr 13. doi: 10.1007/s00439-019-02000-0
PMCID:
PMC6724712
ArticlePDF–528K
20.
Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit
Mol Genet Genomic Med. 2019 Jul; 7(7): e00627. Published online 2019 May 21. doi: 10.1002/mgg3.627
PMCID:
PMC6625144
ArticlePDF–760K

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