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Genetic Disease Gene Identification

This study is enrolling participants by invitation only.

Sponsor:

Information provided by:

State University of New York - Upstate Medical University

ClinicalTrials.gov Identifier:

NCT00916903

First received: June 8, 2009

Last updated: June 9, 2009

Last verified: June 2009

History of Changes

No Study Results Posted on ClinicalTrials.gov for this Study

About Study Results Reporting on ClinicalTrials.gov

Study Status:	This study is enrolling participants by invitation only.
Estimated Study Completion Date:	October 2010
Estimated Primary Completion Date:	October 2010 (Final data collection date for primary outcome measure)

Publications:

Hoo JJ, Shrimpton AE. Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay. Am J Med Genet A. 2008 Feb 15;146A(4):538. No abstract available.

Shrimpton AE, Jensen KA, Hoo JJ. Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit. Am J Med Genet A. 2006 Feb 15;140(4):388-91. No abstract available.

Hoo JJ, Shrimpton AE. Familial hyper- and hypopigmentation with age-related pattern change. Am J Med Genet A. 2005 Jan 15;132A(2):215-8. No abstract available.

Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ. Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin Genet. 2004 Dec;66(6):537-44.

Levinsohn EM, Shrimpton AE, Cady RB, Packard DS, Hootnick DR. Congenital vertical talus in four generations of the same family. Skeletal Radiol. 2004 Nov;33(11):649-54. Epub 2004 Sep 11.

Davis RL, Shrimpton AE, Carrell RW, Lomas DA, Gerhard L, Baumann B, Lawrence DA, Yepes M, Kim TS, Ghetti B, Piccardo P, Takao M, Lacbawan F, Muenke M, Sifers RN, Bradshaw CB, Kent PF, Collins GH, Larocca D, Holohan PD. Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet. 2002 Jun 29;359(9325):2242-7. Erratum in: Lancet 2002 Oct 5;360(9339):1102.

LaDine BJ, Simmons JA, Shrimpton AE, Hoo JJ. Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene. Am J Med Genet. 2001 Mar 15;99(3):248-51.

Shrimpton AE, Braddock BR, Hoo JJ. Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31. Am J Med Genet. 2000 May 15;92(2):155-6. No abstract available.

Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA. Familial dementia caused by polymerization of mutant neuroserpin. Nature. 1999 Sep 23;401(6751):376-9.

Shrimpton AE, Daly KM, Hoo JJ. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. Am J Med Genet. 1999 May 28;84(3):293-9.

Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, Todd R, Bradshaw C, Kent P, Feiglin D, Rosenbaum A, Yerby MS, Shaw CM, Lacbawan F, Lawrence DA. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999 Dec;155(6):1901-13.