Mislen Bauer, MD

Kaiyrzhanov, R., Rad, A., ..., Bauer, M., et al (2024). Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147(4), 1436-1456. View in Pubmed

Roberts, A.G., Bujarska, M., Bauer, M., et al (2021). Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G. JPGN reports, 2(4), e123. View in Pubmed

Mejia, M., Wolfe, E.M., ..., Bauer, M.S., et al (2021). Gingivosupraperiosteoplasty following Presurgical Maxillary Orthopedics Is Associated with Normal Midface Growth in Complete Unilateral and Bilateral Cleft Patients at Mixed Dentition. Plastic and reconstructive surgery, 148(6), 1335-1346. View in Pubmed

Cernichiaro-Espinosa, L.A., Patel, N.A., Bauer, M.S., et al (2019). Revascularization After Intravitreal Bevacizumab and Laser Therapy of Bilateral Retinal Vascular Occlusions in Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) . Ophthalmic Surg Lasers Imaging Retina, 50(2), e33-e37. View in Pubmed

Hung, C.Y., Rodriguez, M., ..., Bauer, M., et al (2019). A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome . American Journal of Medical Genetic. Part A, 179(9), 1866-1871. View in Pubmed

Haller, C., Song, W., ..., Bauer, M., et al (2019). Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population . JIMD Reports, 49(1), 53-62. View in Pubmed

Harmatz, P., Whitley, C.B., Wang, R.Y., Bauer, M., Song, W., Haller, C., Kakkis, E. (2018). A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. Molecular genetics and metabolism, 123(4), 488-494. View in Pubmed

Hannoush, Z.C., Puerta, H., Bauer, M.S., Goldberg, R.B. (2017). New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities. Journal of Clinical Endocrinology and Metabolism, 102(2), 350-353. View in Pubmed

Chang, T.C., Bauer, M., Puerta, H.S., Greenberg, M.B., Cavuoto, K.M. (2017). Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. Journal of AAPOS, 21(6), 514-516. View in Pubmed

Tanaka, A.J., Bai, R., Cho, M.T., Anyane-Yeboa, K., Ahimaz, P., ..., Bauer, M., et al (2015). De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harbor molecular case studies, 1(1), a000356. View in Pubmed

Mejia, J.D., Cervantes, L., Puerta, H., Bauer, M, Diaz, A. (2014). Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. Journal of Pediatric Endocrinology and Metabolism, 27(9-10), 961-965. View in Pubmed

Bauer, M., Saldarriaga, W., Wolfe, S.A., Beckwith, J.B., Frias, J.L., Cohen, M.M. Jr. (2013). Two extraordinarily severe cases of Treacher Collins syndrome. American Journal of Medical Genetics. Part A, 161A(3), 445-452. View in Pubmed

Milunsky, J.M., Maher, T.M., Zhao, G., Wang, Z., Mulliken, J.B., Chitayat, D., Clemens, M., Stalker, H.J., Bauer, M., et al. (2011). Genotype-phenotype analysis of the branchio-oculo-facial syndrome. American Journal of Medical Genetics. Part A, 155A(1), 22-32. View in Pubmed

Shaw, A.C., van Balkom, I.D., Bauer, M., et al. (2010). Phenotype and natural history in Marshall-Smith syndrome. American Journal of Medical Genetics. Part A, 152A(11), 2714-2726. View in Pubmed

Sisk, R.A., Berrocal, A.M., Schefler, A.C., Dubovy, S.R., Bauer, M.S. (2010). Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2. Retina, 30(Suppl 4), S51-S58. View in Pubmed

Kishnani, P.S., Corzo, D., Leslie, N.D., Gruskin, D., Van der Ploeg, A., Clancy, J.P., Parini, R., Morin, G., Beck, M., Bauer, M.S., et al. (2009). Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatric Research, 66(3), 329-335. View in Pubmed

Stankiewicz, P., Sen, P., Bhatt, S.S., Storer, M., Xia, Z., Bejjani, B.A., Ou, Z., Wiszniewska, J., Driscoll, D.J., Maisenbacher, M.K., Bolivar, J., Bauer, M., et al. (2009). Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. American Journal of Human Genetics, 84(6), 780-791. View in Pubmed

Diaz, A., Carrillo, A., Bauer, M., et al (2000). Persistent mullerian duct syndrome in an infant with initial bilateral cryptorchidism. International Pediatrics, 15(1), 41-43.

Diaz, A., Carrillo, A., Bauer, M., et al (2000). Adrenal Insufficiency, alacrima, achalasia and neurologic abnormalities in a child with failure to thrive. . International Pediatrics, 15(3), 159-162.