Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S.
HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13.
Widespread Nevus in Newborn.
Robinson M, Gupta S, Haynie D, Olsson J.
Clin Pediatr (Phila). 2021 Jan;60(1):71-74. doi: 10.1177/0009922820943531. Epub 2020 Jul 29.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.
Robinson GC, Wildervanck LS, Chiang TP.
J Pediatr. 1973 Jan;82(1):107-9. doi: 10.1016/s0022-3476(73)80025-3.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome: the importance of dental anomalies.
Chiang TP, Robinson GC.
ASDC J Dent Child. 1974 Jan-Feb;41(1):38-42.
Hereditary ectodermal dysplasia. Symptoms, inheritance patterns, differential diagnosis, management.
Lowry RB, Robinson GC, Miller JR.
Clin Pediatr (Phila). 1966 Jul;5(7):395-402. doi: 10.1177/000992286600500702.
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V, Casado P, Blackburn J, Abollo-Jimenez F, Marinelli E, Besser REJ, Högler W, Karen Temple I, Davies JH, Gagunashvili A, Robinson ICAF, Camper SA, Davis SW, Cutillas PR, Gevers EF, Aoki Y, Dattani MT, Gaston-Massuet C.
Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4.
Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA.
J Pediatr. 2017 Dec;191:145-151. doi: 10.1016/j.jpeds.2017.08.073.
Pregnancy outcome in women exposed to leflunomide before or during pregnancy.
Cassina M, Johnson DL, Robinson LK, Braddock SR, Xu R, Jimenez JL, Mirrasoul N, Salas E, Luo YJ, Jones KL, Chambers CD; Organization of Teratology Information Specialists Collaborative Research Group.
Arthritis Rheum. 2012 Jul;64(7):2085-94. doi: 10.1002/art.34419.
Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome.
Rao P, Thomas BJ, Yonekawa Y, Robinson J, Capone A Jr.
JAMA Ophthalmol. 2015 Jul;133(7):852-4. doi: 10.1001/jamaophthalmol.2015.0716.
A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.
Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM.
Fetal Pediatr Pathol. 2010 Jan;29(2):108-19. doi: 10.3109/15513811003620914.
