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Items: 1 to 20 of 662

1.
Tooth Abnormalities In Individuals With Unilateral Alveolar Clefts: A Comparison Between Sides Using Cone-Beam Computed Tomography
Bruno-Torres Bezerra, John-Nadson-Andrade Pinho, Luiz-Carlos-Ferreira da Silva
J Clin Exp Dent. 2017 Oct; 9(10): e1195–e1200. Published online 2017 Oct 1. doi: 10.4317/jced.54043
PMCID:
PMC5694147
AbstractArticlePDF–1.2M
2.
Tooth Abnormalities and Their Age-Dependent Occurrence in Leukemia Survivors
Anna Jodłowska, Lidia Postek-Stefańska
Cancers (Basel) 2023 Nov; 15(22): 5420. Published online 2023 Nov 15. doi: 10.3390/cancers15225420
PMCID:
PMC10670488
AbstractArticlePDF–1.0M
3.
Antineoplastic chemotherapy and congenital tooth abnormalities in children and adolescents
Ewa Krasuska-Sławińska, Agnieszka Brożyna, Bożenna Dembowska-Bagińska, Dorota Olczak-Kowalczyk
Contemp Oncol (Pozn) 2016; 20(5): 394–401. Published online 2016 Dec 20. doi: 10.5114/wo.2016.64602
PMCID:
PMC5371707
AbstractArticlePDF–93K
4.
Hemimaxillary Enlargement, Asymmetry of the Face, Tooth Abnormalities, and Skin Findings (HATS) Syndrome: A Case Report and Review of the Literature
Abdullah Alakeel
Cureus. 2020 May; 12(5): e8159. Published online 2020 May 16. doi: 10.7759/cureus.8159
PMCID:
PMC7233494
AbstractArticlePDF–1.2M
5.
Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation
Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola
Am J Hum Genet. 2003 Sep; 73(3): 663–670. Published online 2003 Aug 7. doi: 10.1086/378241
PMCID:
PMC1180692
AbstractArticlePDF–258K
6.
Disruption of Smad4 in Odontoblasts Causes Multiple Keratocystic Odontogenic Tumors and Tooth Malformation in Mice
Yuanrong Gao, Guan Yang, Tujun Weng, Juan Du, Xuejiu Wang, Jian Zhou, Songlin Wang, Xiao Yang
Mol Cell Biol. 2009 Nov; 29(21): 5941–5951. Published online 2009 Aug 24. doi: 10.1128/MCB.00706-09
PMCID:
PMC2772727
AbstractArticlePDF–5.7M
7.
Dental malformations associated with biallelic MMP20 mutations
Shih‐Kai Wang, Hong Zhang, Michael B. Chavez, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Connor D. Colvin, Tamara N. Kolli, Michelle H. Tan, Yin‐Lin Wang, Pei‐Ying Lu, Jung‐Wook Kim, Brian L. Foster, John D. Bartlett, James P. Simmer, Jan C.‐C. Hu
Mol Genet Genomic Med. 2020 Aug; 8(8): e1307. Published online 2020 Jun 3. doi: 10.1002/mgg3.1307
PMCID:
PMC7434610
AbstractArticlePDF–2.9M
8.
Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, Omar Boudghene-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, Amina Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola
Am J Hum Genet. 2010 Aug 13; 87(2): 265–273. doi: 10.1016/j.ajhg.2010.07.003
PMCID:
PMC2917716
AbstractArticlePDF–1.2M
9.
Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
Frank Rauch, Liljana Lalic, Peter Roughley, Francis H Glorieux
Eur J Hum Genet. 2010 Jun; 18(6): 642–647. Published online 2010 Jan 20. doi: 10.1038/ejhg.2009.242
PMCID:
PMC2987338
AbstractArticlePDF–342K
10.
Börjeson-Forssman-Lehmann综合征1例
潘 兰桂, 尹 飞, 陈 施梦, 熊 娟, 何 芳, 彭 镜
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Feb 28; 48(2): 294–301. Chinese. doi: 10.11817/j.issn.1672-7347.2023.220414
PMCID:
PMC10930350
AbstractArticlePDF–2.7M
11.
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
AbstractArticlePDF–406K
12.
Skeletal Deformities in Osterix-Cre;Tgfbr2f/f Mice May Cause Postnatal Death
Kara Corps, Monica Stanwick, Juliann Rectenwald, Andrew Kruggel, Sarah B. Peters
Genes (Basel) 2021 Jul; 12(7): 975. Published online 2021 Jun 25. doi: 10.3390/genes12070975
PMCID:
PMC8307487
AbstractArticlePDF–9.6M
13.
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
Mingang Xu, Jeremy Horrell, Melinda Snitow, Jiawei Cui, Heather Gochnauer, Camille M. Syrett, Staci Kallish, John T. Seykora, Fei Liu, Dany Gaillard, Jonathan P. Katz, Klaus H. Kaestner, Brooke Levin, Corinne Mansfield, Jennifer E. Douglas, Beverly J. Cowart, Michael Tordoff, Fang Liu, Xuming Zhu, Linda A. Barlow, Adam I. Rubin, John A. McGrath, Edward E. Morrisey, Emily Y. Chu, Sarah E. Millar
Nat Commun. 2017; 8: 15397. Published online 2017 Jun 7. doi: 10.1038/ncomms15397
PMCID:
PMC5467248
AbstractArticlePDF–8.8M
14.
Oral manifestations of Alagille syndrome
Anne-Laure Bonnet, Victor Greset, Tiphaine Davit-Beal
BMJ Case Rep. 2020; 13(5): e234689. Published online 2020 May 31. doi: 10.1136/bcr-2020-234689
PMCID:
PMC7264826
AbstractArticlePDF–834K
15.
Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
C Thauvin‐Robinet, M Cossée, V Cormier‐Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier
J Med Genet. 2006 Jan; 43(1): 54–61. doi: 10.1136/jmg.2004.027672
PMCID:
PMC2564504
AbstractArticlePDF–498K
16.
Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
Clémentine Escouflaire, Emmanuelle Rebours, Mathieu Charles, Sébastien Orellana, Margarita Cano, Julie Rivière, Cécile Grohs, Hélène Hayes, Aurélien Capitan
BMC Genomics. 2019; 20: 715. Published online 2019 Sep 18. doi: 10.1186/s12864-019-6087-1
PMCID:
PMC6749632
AbstractArticlePDF–2.3M
17.
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
Jill A. Rosenfeld, Blake C. Ballif, Ann Lucas, Edward J. Spence, Cynthia Powell, Arthur S. Aylsworth, Beth A. Torchia, Lisa G. Shaffer
PLoS One. 2009; 4(8): e6568. Published online 2009 Aug 10. doi: 10.1371/journal.pone.0006568
PMCID:
PMC2719055
AbstractArticlePDF–1.1M
18.
Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study
Doaa Taqi, Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey, Frank Rauch, Faleh Tamimi
Bone. Author manuscript; available in PMC 2022 Jun 1.
Published in final edited form as: Bone. 2021 Jun; 147: 115917. Published online 2021 Mar 16. doi: 10.1016/j.bone.2021.115917
PMCID:
PMC8278321
AbstractArticlePDF–1.7M
19.
The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
Yin-Huai Chen, Sarah van Zon, Alex Adams, Dirk Schmidt-Arras, Arian D. J. Laurence, Holm H. Uhlig
J Clin Immunol. 2024; 44(1): 30. Published online 2023 Dec 22. doi: 10.1007/s10875-023-01603-7
PMCID:
PMC10746620
AbstractArticlePDF–1.5M
20.
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri
Mol Genet Genomic Med. 2019 Jun; 7(6): e682. Published online 2019 Apr 11. doi: 10.1002/mgg3.682
PMCID:
PMC6565552
AbstractArticlePDF–406K

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