G B Schaefer
Overview
Explore the profile of G B Schaefer including associated specialties, affiliations and a list of published articles.
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Articles
80
Citations
742
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0
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Recent Articles
1.
Johnson B, Kumar R, Oishi S, Alexander S, Kasherman M, Vega M, et al.
Biol Psychiatry
. 2019 Aug;
87(2):100-112.
PMID: 31443933
Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo...
2.
Helm B, Powis Z, Prada C, Casasbuenas-Alarcon O, Balmakund T, Schaefer G, et al.
Am J Med Genet A
. 2017 Aug;
173(10):2814-2820.
PMID: 28815955
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families....
3.
Vivero M, Cho M, Begtrup A, Wentzensen I, Walsh L, Payne K, et al.
Clin Genet
. 2017 Jan;
91(6):929-931.
PMID: 28133733
No abstract available.
4.
Burnside R, Spudich L, Rush B, Kubendran S, Schaefer G
Cytogenet Genome Res
. 2013 Dec;
142(2):129-33.
PMID: 24335332
Microarray analysis is used to detect small copy number changes (deletions and duplications) that may be associated with genetic syndromes and phenotypic abnormalities. However, there are limitations to what microarrays...
5.
Solomon B, Bear K, Wyllie A, Keaton A, Dubourg C, David V, et al.
J Med Genet
. 2012 Jul;
49(7):473-9.
PMID: 22791840
Background: Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in...
6.
Needelman H, Schroeder B, Sweeney M, Schmidt J, Bodensteiner J, Schaefer G
J Child Neurol
. 2007 Jul;
22(3):314-6.
PMID: 17621502
The authors report the natural history of closure of the cavum Septi pellucidi in premature infants 26 to 27 weeks postconception at birth and compare the developmental outcome in these...
7.
Schaefer G
Pediatr Phys Ther
. 2006 Oct;
13(4):182-4.
PMID: 17053637
Purpose: This article provides a review of the current state of incorporating genetic information into clinical practice and looks to the future, which is just around the corner. Key Points:...
8.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, et al.
J Med Genet
. 2005 Apr;
42(4):307-13.
PMID: 15805156
Background: Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10% of non-Japanese cases of Sotos. In...
9.
Cauble M, Mack-Shipman L, Schaefer G, Balakrishnan S, Larsen J
J Pediatr Endocrinol Metab
. 2001 Oct;
14(8):1163-7.
PMID: 11592577
Background: Idiopathic hypothalamic dysfunction is a rare syndrome that has been described in young children. This syndrome is characterized by a disturbance of thirst regulation with hypernatremia, hyperosmolarity, and altered...
10.
Amalfitano A, Bengur A, Morse R, Majure J, Case L, Veerling D, et al.
Genet Med
. 2001 Apr;
3(2):132-8.
PMID: 11286229
Purpose: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the...