Results 31 to 40 of about 19,360 (251)

Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4 [PDF]

, 2004
86% of immunoglobulin G (IgG) heavy-chain gene transcripts were found to be non-functional in the peripheral blood B cells of a patient initially diagnosed with common variable immunodeficiency, who later developed raised IgM, whereas no non-functionally
Allen RC, Aruffo A, Bonhomme D, Fuleihan R, Lin Q, Mayer L, Ramesh N, Seyama K, Webster ADB, WHO Scientific Group.   +9 more
core   +3 more sources

RNA-Seq identifies SPGs as a ventral skeletal patterning cue in sea urchins [PDF]

, 2016
The sea urchin larval skeleton offers a simple model for formation of developmental patterns. The calcium carbonate skeleton is secreted by primary mesenchyme cells (PMCs) in response to largely unknown patterning cues expressed by the ectoderm.
Bardot, Evan, Blute, Todd A., Bradham, Cynthia A., Chaves, James, Chung, Oliver, Core, Amanda B., Coulombe-Huntington, Jasmin, Ferrell, Patrick, Fishman, Julie, Hameeduddin, Hajerah, Hewitt, Finnegan B., Hogan, John D., Ibn-Salem, Jonas, Keenan, Jessica L, Lee, David, Li, Christy, Luo, Lingqi, Oleinik, Ekaterina, Patel, Vijeta, Piacentino, Michael L., Poustka, Albert J., Ramachandran, Janani, Reyna, Arlene, Rose, Sviatlana, Speranza, Emily E., Yu, Jia, Zuch, Daniel T.   +26 more
core   +1 more source

Hypohidrotic ectodermal dysplasia

Dermatology Online Journal, 2008
We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
openaire   +4 more sources

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]

, 2016
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Krøigård, Anne Bruun   +4 more
core   +2 more sources

Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]

, 2005
BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E., Sárközi, Andrea, Wyszynski, Diego F   +2 more
core   +3 more sources

Meeting report: a hard look at the state of enamel research. [PDF]

, 2017
The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National Institute of Dental and Craniofacial Research (NIDCR).
Bartlett, John D, DenBesten, Pamela, Diekwisch, Thomas Gh, Duverger, Olivier, Joester, Derk, Klein, Ophir D, Kulkarni, Ashok B, Lacruz, Rodrigo S, Millar, Sarah E, Moradian-Oldak, Janet, Pugach, Megan K, Shaw, Wendy, Simmer, James P, Wright, J Timothy   +13 more
core   +1 more source

Ectodermal Dysplasias Revisited [PDF]

Acta geneticae medicae et gemellologiae, 1977
This paper presents a historical view of the development of the concept of ectodermal dysplasia, analyses five current “definitions” of the group, and classifies 52-57 ectodermal dysplasias into subgroups on the basis of criteria developed by the Author.
openaire   +2 more sources

Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report

Journal of International Medical Research, 2021
Background Ectodermal dysplasia is a congenital genetic disorder with a prevalence of 1:10,000 to 1:100,000. The clinical features of ectodermal dysplasia include sparse hair, missing teeth, and abnormal development of the skin, sweat glands, and other ...
Qintian Zhu, Yixuan Jiang, Jilan Yu, Renfei Wang   +3 more
doaj   +1 more source

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
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TRENDS IN DENTAL CARE FOR INDIVIDUALS WITH ECTODERMAL DYSPLASIA [PDF]

, 2011
Purpose: The specific aim of this study is to evaluate the trends in dental health care for individuals with ectodermal dysplasia. Methods: This was a cross sectional analysis of subjects recruited through the National Foundation of Ectodermal Dysplasia (
Edwards, Justin
core   +1 more source