P I Bader
Overview
Explore the profile of P I Bader including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
23
Citations
219
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Recent Articles
1.
Dhar S, Del Gaudio D, German J, Peters S, Ou Z, Bader P, et al.
Am J Med Genet A
. 2010 Feb;
152A(3):573-81.
PMID: 20186804
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay,...
2.
Yatsenko S, Kruer M, Bader P, Corzo D, Schuette J, Keegan C, et al.
Clin Genet
. 2009 Jun;
76(1):54-62.
PMID: 19558528
Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including...
3.
Sood R, Bader P, Speer M, Edwards Y, Eddings E, Blair R, et al.
Cytogenet Genome Res
. 2004 Jun;
106(1):61-7.
PMID: 15218243
Here we report on a male patient with sacral dysgenesis (SD) and constitutional pericentric inversion of chromosome 6 (p11.2;q23.3). SD is a heterogeneous group of congenital anomalies with complex genetic...
4.
Moore E, Ward R, Jamison P, Morris C, Bader P, Hall B
J Pediatr
. 2001 Aug;
139(2):215-9.
PMID: 11487746
Objectives: The purpose was to demonstrate that an objective, multivariate case definition of fetal alcohol syndrome (FAS) and partial fetal alcohol syndrome (PFAS) can be derived by means of craniofacial...
5.
Bader P, Dougherty S, Cangany N, Raymond G, Jackson C
Am J Med Genet
. 1999 Dec;
90(2):110-4.
PMID: 10607947
Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage;...
6.
Dewald G, Stallard R, Al Saadi A, Arnold S, Bader P, Blough R, et al.
Am J Med Genet
. 1998 Apr;
76(4):318-26.
PMID: 9545096
Twenty-six laboratories used X and Y chromosome probes and the same procedures to process and examine 15,600 metaphases and 49,400 interphases from Phaseolus vulgaris-leucoagglutinin (PHA)-stimulated lymphocytes. In Part I, each...
7.
Dewald G, Stallard R, Bader P, Chen K, Harris C, Higgins R, et al.
Am J Med Genet
. 1996 Oct;
65(3):190-6.
PMID: 9240742
Although fluorescent in situ hybridization (FISH) is rapidly becoming a part of clinical cytogenetics, no organization sponsors multicenter determinations of the efficacy of probes. We report on 23 laboratories that...
8.
Dewald G, Stallard R, Bader P, Chen K, Harris C, Higgins R, et al.
Am J Med Genet
. 1996 Sep;
64(4):539-45.
PMID: 8870919
Although fluorescent in situ hybridization (FISH) is rapidly becoming a part of clinical cytogenetics, no organization sponsors multi-center determinations of the efficacy of probes. We report on 23 laboratories that...
9.
Gibson K, Lohr J, Broock R, Hoffmann G, Nyhan W, Sweetman L, et al.
Enzyme
. 1989 Jan;
41(1):47-55.
PMID: 2543551
An assay has been developed for the measurement of mevalonate kinase activity in extracts of cultured human fibroblasts and lymphoblasts. Individual elements of the assay were investigated in order to...
10.
Hoffmann G, Gibson K, BRANDT I, Bader P, Wappner R, Sweetman L
N Engl J Med
. 1986 Jun;
314(25):1610-4.
PMID: 3012338
A two-year-old boy presented with severe failure to thrive, developmental delay, anemia, hepatosplenomegaly, central cataracts, and dysmorphic features. Quantitative analyses of urinary organic acids revealed massive excretion of mevalonic acid,...