Publications by authors named "Alberto S Cornier"

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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, Alberto S Cornier

Genome Med· December 2024

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Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome).
Norman Ramírez, Carlos Monroig-Rivera, Wilfredo De Jesús-Rojas, Edwin Rosado, Norma J Arciniegas Medina, Alberto Santiago Cornier

J Bone Joint Surg Am· March 2024

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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Alberto S Cornier

Eur J Hum Genet· September 2020

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A Phase II, Randomized, Safety and Immunogenicity Trial of a Re-Derived, Live-Attenuated Dengue Virus Vaccine in Healthy Children and Adults Living in Puerto Rico.
Kristen Bauer, Ines O Esquilin, Alberto Santiago Cornier, Stephen J Thomas, Ana I Quintero Del Rio

Am J Trop Med Hyg· September 2015

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Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia.
Norman Ramirez, John M Flynn, Francisco Casalduc, Stephanie Rodriguez, Alberto S Cornier

J Child Orthop· July 2012

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Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).
Walter E Berdon, Brooke S Lampl, Alberto S Cornier, Norman Ramirez, Peter D Turnpenny

Pediatr Radiol· March 2011

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Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.
John M Flynn, Norman Ramirez, Randal Betz, Mary Jane Mulcahey, Franz Pino, Alberto S Cornier

J Pediatr Orthop· June 2010

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Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.
Amaka Offiah, Benjamin Alman, Alberto S Cornier, Philip F Giampietro, Olivier Tassy

Am J Med Genet A· June 2010

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The Vertical Expandable Prosthetic Titanium Rib in the treatment of spinal deformity due to progressive early onset scoliosis.
Norman Ramirez, John M Flynn, Jose Anibal Serrano, Simon Carlo, Alberto S Cornier

J Pediatr Orthop B· July 2009

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Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Alberto S Cornier

Ann N Y Acad Sci· January 2009

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Molecular diagnosis of vertebral segmentation disorders in humans.
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Alberto S Cornier

Expert Opin Med Diagn· October 2008

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Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Alberto S Cornier, Karen Staehling-Hampton, Kym M Delventhal, Yumiko Saga, Jean-Francois Caubet

Am J Hum Genet· June 2008

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Natural history of thoracic insufficiency syndrome: a spondylothoracic dysplasia perspective.
Norman Ramírez, Alberto S Cornier, Robert M Campbell, Simón Carlo, Sandra Arroyo

J Bone Joint Surg Am· December 2007

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Abnormal vertebral segmentation and the notch signaling pathway in man.
Peter D Turnpenny, Ben Alman, Alberto S Cornier, Philip F Giampietro, Amaka Offiah

Dev Dyn· June 2007

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Unilateral congenital absence of the calf muscle.
John M Flynn, Norman Ramirez, Alberto S Cornier, Edgar Colon-Negron

J Pediatr Orthop B· January 2007

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Orthopaedic manifestations of Bardet-Biedl syndrome.
Norman Ramirez, Luis Marrero, Simon Carlo, Alberto S Cornier

J Pediatr Orthop· April 2004

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Controversies surrounding Jarcho-Levin syndrome.
Alberto S Cornier, Norman Ramirez, Simón Carlo, Abilio Reiss

Curr Opin Pediatr· December 2003

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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, Gretel Beck, Kevin Bugge, Alberto S Cornier

Am J Hum Genet· February 2003

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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, Mythreyi Shastri, Hsan-jan Yen, Alberto S Cornier

Nat Genet· August 2002

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