Alberto S Cornier
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Explore the profile of Alberto S Cornier including associated specialties, affiliations and a list of published articles.
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17
Citations
403
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Recent Articles
1.
Pehlivan D, Bengtsson J, Bajikar S, Grochowski C, Lun M, Gandhi M, et al.
Genome Med
. 2024 Dec;
16(1):146.
PMID: 39696717
Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic...
2.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru K, et al.
Eur J Hum Genet
. 2020 May;
28(9):1243-1264.
PMID: 32376988
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155);...
3.
Ramirez N, Flynn J, Casalduc F, Rodriguez S, Cornier A, Carlo S
J Child Orthop
. 2013 Jul;
6(3):199-203.
PMID: 23814620
Purpose: Neonatal nonketotic hyperglycinemia is an autosomal recessive inborn disorder of glycine metabolism in which large quantities of glycine accumulate in all body tissues. It is characterized by a progressive...
4.
Giampietro P, Dunwoodie S, Kusumi K, Pourquie O, Tassy O, Offiah A, et al.
Expert Opin Med Diagn
. 2013 Mar;
2(10):1107-21.
PMID: 23496422
Background: Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement and functional distress. Objective: To provide...
5.
Berdon W, Lampl B, Cornier A, Ramirez N, Turnpenny P, Vitale M, et al.
Pediatr Radiol
. 2010 Dec;
41(3):384-8.
PMID: 21174082
In 1938, Saul Jarcho and Paul Levin from Johns Hopkins Hospital reported cases of thoracic insufficiency due to vertebral and rib anomalies. Nearly 30 years later, in 1966, Norman Lavy...
6.
Offiah A, Alman B, Cornier A, Giampietro P, Tassy O, Wade A, et al.
Am J Med Genet A
. 2010 May;
152A(6):1357-71.
PMID: 20503308
Existing nomenclature systems for describing and reporting congenital segmentation defects of the vertebrae (SDV) are confusing, inconsistently applied, and lack molecular genetic advances. Our aim was to develop and assess...
7.
Flynn J, Ramirez N, Betz R, Mulcahey M, Pino F, Herrera-Soto J, et al.
J Pediatr Orthop
. 2010 Apr;
30(3):282-8.
PMID: 20357596
Background: A syndrome of children with short stature, bilateral hip dislocations, radial head dislocations, carpal coalitions, scoliosis, and cavus feet in Puerto Rican children, was reported by Steel et al...
8.
Ramirez N, Flynn J, Serrano J, Carlo S, Cornier A
J Pediatr Orthop B
. 2009 Apr;
18(4):197-203.
PMID: 19390461
The Vertical Expandable Prosthetic Titanium Rib (VEPTR) is a technique developed for the treatment of progressive early onset scoliosis. This vertically placed device uses distraction to indirectly elongate the spine...
9.
Giampietro P, Dunwoodie S, Kusumi K, Pourquie O, Tassy O, Offiah A, et al.
Ann N Y Acad Sci
. 2009 Jan;
1151:38-67.
PMID: 19154516
Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1)...
10.
Cornier A, Staehling-Hampton K, Delventhal K, Saga Y, Caubet J, Sasaki N, et al.
Am J Hum Genet
. 2008 May;
82(6):1334-41.
PMID: 18485326
Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs...