Publications by authors named "Mislen Bauer"

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Mislen Bauer, Peter Bauer

Brain· April 2024

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Gingivosupraperiosteoplasty following Presurgical Maxillary Orthopedics Is Associated with Normal Midface Growth in Complete Unilateral and Bilateral Cleft Patients at Mixed Dentition.
Martha Mejia, Erin M Wolfe, Blake D Murphy, Leonard Rothenberg, Ana Tejero, Mislen Bauer

Plast Reconstr Surg· December 2021

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Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G.
Annette Gawron Roberts, Malgorzata Bujarska, Mislen Bauer, Carole Brathwaite, Liset Pelaez

JPGN Rep· November 2021

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A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Christina Y Hung, Mario Rodriguez, Abra Roberts, Mislen Bauer, Ivana Mihalek

Am J Med Genet A· September 2019

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Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
Christine Haller, Wenjie Song, Tricia Cimms, Chao-Yin Chen, Chester B Whitley, Mislen Bauer

JIMD Rep· September 2019

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Revascularization After Intravitreal Bevacizumab and Laser Therapy of Bilateral Retinal Vascular Occlusions in Incontinentia Pigmenti (Bloch-Sulzberger Syndrome).
Linda A Cernichiaro-Espinosa, Nimesh A Patel, Mislen S Bauer, Catherin I Negron, Brenda Fallas

Ophthalmic Surg Lasers Imaging Retina· February 2019

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A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
Paul Harmatz, Chester B Whitley, Raymond Y Wang, Mislen Bauer, Wenjie Song

Mol Genet Metab· April 2018

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Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
Ta C Chang, Mislen Bauer, Herminia S Puerta, Matthew B Greenberg, Kara M Cavuoto

J AAPOS· December 2017

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New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.
Zeina C Hannoush, Herminia Puerta, Mislen S Bauer, Ronald B Goldberg

J Clin Endocrinol Metab· February 2017

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De novo mutations in PURA are associated with hypotonia and developmental delay.
Akemi J Tanaka, Renkui Bai, Megan T Cho, Kwame Anyane-Yeboa, Priyanka Ahimaz, Mislen Bauer

Cold Spring Harb Mol Case Stud· October 2015

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Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction.
Juan Diego Mejia, Luisa Cervantes, Herminia Puerta, Mislen Bauer, Alejandro Diaz

J Pediatr Endocrinol Metab· September 2014

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Two extraordinarily severe cases of Treacher Collins syndrome.
Mislen Bauer, Wilmar Saldarriaga, S Anthony Wolfe, J Bruce Beckwith, Jaime L Frias

Am J Med Genet A· March 2013

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Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Jeff M Milunsky, Tom M Maher, Geping Zhao, Zhenyuan Wang, John B Mulliken, Mislen Bauer

Am J Med Genet A· January 2011

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Phenotype and natural history in Marshall-Smith syndrome.
Adam C Shaw, Inge D C van Balkom, Mislen Bauer, Trevor R P Cole, Marie-Ange Delrue

Am J Med Genet A· November 2010

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Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2.
Robert A Sisk, Audina M Berrocal, Amy C Schefler, Sander R Dubovy, Mislen S Bauer

Retina· April 2010

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Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
Priya S Kishnani, Deya Corzo, Nancy D Leslie, Daniel Gruskin, Ans Van der Ploeg, Mislen S Bauer

Pediatr Res· September 2009

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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Paweł Stankiewicz, Partha Sen, Samarth S Bhatt, Mekayla Storer, Zhilian Xia, Mislen Bauer

Am J Hum Genet· June 2009

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