E K Schorry
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Explore the profile of E K Schorry including associated specialties, affiliations and a list of published articles.
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14
Citations
198
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Recent Articles
1.
Johnson K, Fisher M, Listernick R, North K, Schorry E, Viskochil D, et al.
Fam Cancer
. 2012 Jul;
11(4):653-6.
PMID: 22829012
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant cancer syndromes worldwide. Individuals with NF1 have a wide variety of clinical features including a strongly increased risk...
2.
Schorry E, Keddache M, Lanphear N, Rubinstein J, Srodulski S, Fletcher D, et al.
Am J Med Genet A
. 2008 Sep;
146A(19):2512-9.
PMID: 18792986
Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in CREBBP or EP300 genes has been found in about 50% of patients with RTS. Genotype-phenotype...
3.
Tinkle B, Miller E, Schorry E
Hum Genet
. 2006 Nov;
119(6):677.
PMID: 17128474
No abstract available.
4.
Wedig K, Kogan J, Schorry E, Whitsett J
J Perinatol
. 2006 May;
26(6):371-4.
PMID: 16724078
Two surviving female infants, born from a triplet pregnancy at 30 weeks gestation, were noted to have severe osteopenia and multiple fractures diagnosed at 20 days of age. Their mother...
5.
Hopkin R, Schorry E, Bofinger M, Saal H
J Pediatr
. 2000 Aug;
137(2):247-9.
PMID: 10931419
Ten of 12 patients diagnosed with deletion 22q11.2 in infancy required a total of 26 hospitalizations during their first year of life. After heart disease, feeding and respiratory problems were...
6.
Crawford A, Schorry E
J Am Acad Orthop Surg
. 1999 Aug;
7(4):217-30.
PMID: 10434076
Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses...
7.
Stevenson D, Birch P, Friedman J, Viskochil D, Balestrazzi P, Boni S, et al.
Am J Med Genet
. 1999 Jun;
84(5):413-9.
PMID: 10360395
Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1....
8.
Johnson N, Saal H, Lovell A, Schorry E
J Pediatr
. 1999 Jun;
134(6):767-72.
PMID: 10356149
Objective: To describe social and emotional problems in children and adolescents with neurofibromatosis type 1 (NF1) and propose interventions. Our hypothesis is that children with NF1 will have significantly more...
9.
Schorry E, Dietrich K, Saal H, Blough R, Dey S, Chernausek S
Am J Med Genet
. 1998 May;
77(4):257-60.
PMID: 9600731
We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature,...
10.
Schorry E, Crawford A, Egelhoff J, Lovell A, Saal H
Am J Med Genet
. 1997 Oct;
74(5):533-7.
PMID: 9342207
Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1). To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical...