Wagner A R Baratela
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Explore the profile of Wagner A R Baratela including associated specialties, affiliations and a list of published articles.
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9
Citations
219
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Recent Articles
1.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela W, et al.
Nat Rev Endocrinol
. 2021 Nov;
18(3):173-189.
PMID: 34837063
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation...
2.
Burrage L, Reynolds J, Baratang N, Phillips J, Wegner J, McFarquhar A, et al.
Am J Hum Genet
. 2019 Feb;
104(3):422-438.
PMID: 30773277
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts,...
3.
LaCroix A, Stabley D, Sahraoui R, Adam M, Mehaffey M, Kernan K, et al.
Am J Hum Genet
. 2018 Dec;
104(1):35-44.
PMID: 30554721
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular...
4.
Stankiewicz P, Khan T, Szafranski P, Slattery L, Streff H, Vetrini F, et al.
Am J Hum Genet
. 2017 Sep;
101(4):503-515.
PMID: 28942966
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this...
5.
Bertola D, Honjo R, Baratela W
Mol Syndromol
. 2016 May;
7(1):12-8.
PMID: 27194968
Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy...
6.
Yamamoto G, Baratela W, Almeida T, Lazar M, Afonso C, Oyamada M, et al.
Am J Hum Genet
. 2014 Jan;
94(1):113-9.
PMID: 24387991
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy....
7.
Baratela W, Bober M, Thacker M, Belthur M, Oto M, Rogers K, et al.
J Pediatr Orthop
. 2013 Oct;
34(2):223-8.
PMID: 24096444
Background: Craniovertebral junction anomalies and C1-C2 instability resulting in myelopathy have been well described in the literature on mucopolysaccharidosis IV (MPS-IV). Spinal involvement in MPS-IV patients, with neurological impairment, other...
8.
Baratela W, Bober M, Tiller G, Okenfuss E, Ditro C, Duker A, et al.
Am J Med Genet A
. 2012 Jun;
158A(8):1815-22.
PMID: 22711505
We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild...
9.
Laus A, Baratela W, Laureano L, Santos S, Huber J, Ramos E, et al.
Am J Med Genet A
. 2012 Feb;
158A(4):821-7.
PMID: 22354628
Trisomy 16q is a clinically recognizable entity presenting with a wide spectrum of abnormalities. Only five infants with a diagnosis of partial trisomy 16q13 → qter have been previously reported,...