Results 21 to 30 of about 58,228 (350)

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration [PDF]

, 2015
Acknowledgements We are indebted to Jim Humphries, JennyCorrigan, LizDarley, Elizabeth Joynson, Natalie Walters, Sara Wells and the whole necropsy, histology, genotyping and MLC ward 6 teams at MRC Harwell for excellent technical assistance. We thank the
Abramov, Andrey Y., Acevedo-Arozena, Abraham, Bennet, David L. H., Beskina, Olga A., Brandner, Sebastian, Busam, Bharani Shiva, Carter, Sarah, Codner, Gemma, Corrochano, Silvia, Esapa, Christopher, Estabel, Jeanne, Fisher, Elizabeth M. C., Fratta, Pietro, Galino, Jorge, Greensmith, Linda, Groves, Michael, Hilton, Helen, Joyce, Peter I., Landman, Allison S., Lionikas, Arimantas, Mcgoldrick, Philip, Plagnol, Vincent, Ramirez-Solis, Ramiro, Ryder, Edward, Stewart, Michelle, Teboul, Lydia, Tucker, Jennifer, Wackerhage, Henning, White, Jacqueline K.   +28 more
core   +3 more sources

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]

, 2013
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...
Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang   +84 more
core   +2 more sources

[Dens invaginatus tooth abnormality].

Swiss dental journal, 2016
Dens invaginatus (dens in dente) is a dental anomaly caused by an invagination of the tooth surface during tooth development.
Markus, Schaffner, Herrmann, Stich, Adrian, Lussi   +2 more
openaire   +2 more sources

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. [PDF]

, 2012
BackgroundMitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy.
Bers, Donald M, Chen, Le, Chiamvimonvat, Nipavan, Cortopassi, Gino, Davies, Vanessa, Knowlton, Anne A, Liu, Tingting, Lu, Xiyuan, Tomilov, Alexey A, Tran, Alice, Votruba, Marcela   +10 more
core   +2 more sources

Prevalence and Type of Dental Abnormalities Among Patients With Different Skeletal Malocclusion Classes in Northern Iran [PDF]

مجله دانشگاه علوم پزشکی گیلان, 2023
Background Dental abnormalities are considered important, since they cause aesthetic and functional problems for people. Orthodontic treatment becomes more complicated when craniofacial abnormalities are accompanied with dental abnormalities.
Negar Khosravifard, Faegheh Gholinia, Farzaneh Ostovarrad, Zahra Dalili Kajan, Hamideh Mohammadi, Parmida Farzam   +5 more
doaj  

Tooth transposition: two case-reports and literature review

Revista da Faculdade de Odontologia de Porto Alegre, 2018
Tooth transposition is a rare developmental disorder in which a normal tooth erupts in an inappropriate position. The change in position occurs between two adjacent teeth within the same quadrant.
Camila Alves Ferri, Laura Campos Hildebrand   +1 more
doaj   +1 more source

Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. [PDF]

, 2018
Orofacial clefting represents the most common craniofacial birth defect. Cleft lip with or without cleft palate (CL/P) is genetically distinct from cleft palate only (CPO).
Berkes, Blaschke, Brendolan, Britanova, Buck, Bush, Capellini, Capellini, Capellini, Capellini, Choe, Clement-Jones, Cox, Cuadra-Blanco, Dixon, Dobreva, Elahi, Ferguson, Ferguson, Ferretti, Ficara, Ficara, Fuchs, Golonzhka, Gordon, Gordon, Gosain, Grebbin, Gritli-Linde, Gritli-Linde, Hebert, Hessle, Hill, Hilliard, Ho, Howe, Hurtado, Kim, Kim, Koss, Kousa, Lan, Lane, Leslie, Lewis, Li, Lidral, Longobardi, Losa, Manyama, Marazita, Martik, McCulley, Miletich, Minoux, Moens, Murphy, Okano, Pauws, Percival, Rhee, Richman, Roberts, Rosset, Sagerstrom, Satokata, Schnabel, Selleri, Selleri, Stankunas, Sun, Tam, Villaescusa, Welsh, Young, Yu, Yu, Zeytinoglu, Zhang   +78 more
core   +1 more source

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis [PDF]

, 2016
Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing ...
Amadori, Francesca, Bardellini, Elena, Borsani, Giuseppe, De Petro, Giuseppina, Ferrari, Lia, Giacopuzzi, Edoardo, Majorana, Alessandra, Salvi, Alessandro   +7 more
core   +1 more source

What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]

, 2018
Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
core   +1 more source

Lysmata Rafa, a New Species of Peppermint Shrimp (Crustacea, Caridea, Hippolytidae) from the Subtropical Western Atlantic [PDF]

, 2007
Lysmata rafa n. sp. is described from freshly collected specimens from the Keys West Lakes, Florida Keys, and from a museum specimen collected at Bear Cut, Biscayne Bay, Florida.
Anker, Arthur, Rhyne, Andrew L.
core   +2 more sources