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References for PMC Articles for PubMed (Select 12621583)


"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH.

J Med Genet. 2002 Oct;39(10):734-40.


Signaling adaptor protein v-Crk activates Rho and regulates cell motility in 3Y1 rat fibroblast cell line.

Tsuda M, Tanaka S, Sawa H, Hanafusa H, Nagashima K.

Cell Growth Differ. 2002 Mar;13(3):131-9.


A chemical-genetic strategy implicates myosin-1c in adaptation by hair cells.

Holt JR, Gillespie SK, Provance DW, Shah K, Shokat KM, Corey DP, Mercer JA, Gillespie PG.

Cell. 2002 Feb 8;108(3):371-81.


The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors.

Jordens I, Fernandez-Borja M, Marsman M, Dusseljee S, Janssen L, Calafat J, Janssen H, Wubbolts R, Neefjes J.

Curr Biol. 2001 Oct 30;11(21):1680-5.


LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB.

Neurology. 2001 Aug 14;57(3):416-22.


The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K.

Hum Mol Genet. 2001 May 15;10(11):1129-39.


Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH.

Genet Med. 1998 Nov-Dec;1(1):29-33.


A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system.

Sasaki S, Shionoya A, Ishida M, Gambello MJ, Yingling J, Wynshaw-Boris A, Hirotsune S.

Neuron. 2000 Dec;28(3):681-96.


The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.

Hum Mol Genet. 2000 Dec 12;9(20):3019-28.


Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer.

Hoff C, Seranski P, Mollenhauer J, Korn B, Detzel T, Reinhardt R, Ramser J, Poustka A.

Genomics. 2000 Nov 15;70(1):26-33.


An optimized set of human telomere clones for studying telomere integrity and architecture.

Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J.

Am J Hum Genet. 2000 Aug;67(2):320-32. Epub 2000 Jun 22.


Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ.

Neurology. 1999 Jul 22;53(2):270-7.


Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.

Hum Mol Genet. 1999 Jun;8(6):1025-37.


Physiological signals and oncogenesis mediated through Crk family adapter proteins.

Feller SM, Posern G, Voss J, Kardinal C, Sakkab D, Zheng J, Knudsen BS.

J Cell Physiol. 1998 Dec;177(4):535-52. Review.


LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME.

Hum Mol Genet. 1998 Dec;7(13):2029-37.

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