Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
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Jung R, Janardhan HP, Trivedi CM. Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia. Circ Res. 2022 07 08; 131(2):130-132.
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Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Rep. 2019 09 24; 28(13):3320-3328.e4.
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Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 07; 101(6):985-994.
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ElMallah M, Bailey E, Trivedi M, Kremer T, Rhein LM. Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications. Pediatr Ann. 2017 09 01; 46(9):e336-e339.
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Stadelmaier R, Nasri H, Deutsch CK, Bauman M, Hunt A, Stodgell CJ, Adams J, Holmes LB. Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism. Birth Defects Res. 2017 Aug 15; 109(14):1134-1143.
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Pauws E, Stanier P. Sumoylation in Craniofacial Disorders. Adv Exp Med Biol. 2017; 963:323-335.
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Morris LM, Tatum SA. Craniofacial Surgery for the Facial Plastic Surgeon. Facial Plast Surg Clin North Am. 2016 Nov; 24(4):xiii.
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Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivi?re JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016 12; 90(6):509-517.
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Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonaf? L, Superti-Furga A, Unger S. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. Am J Med Genet A. 2015 Jul; 167(7):1501-9.
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Deutsch CK, Levy DL, Price SF, Bodkin JA, Boling L, Coleman MJ, Johnson F, Lerbinger J, Matthysse S, Holzman PS. Quantitative Measures of Craniofacial Dysmorphology in a Family Study of Schizophrenia and Bipolar Illness. Schizophr Bull. 2015 Nov; 41(6):1309-16.