Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as … - Full text - MIT Libraries
LA Schimmenti, HH Shim, JD Wirtschafter, VA … - Hum Mutat, 1999 - doi.wiley.com
... Preponderance of insertion/deletion mutations in NF1 are also associated with
homonucleotide ... guanine tract in exon 2 is conserved between human PAX2 and mouse ...
Cited by 8 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov

Computational analysis of composite regulatory elements - Full text - MIT Libraries
P Qiu, W Ding, Y Jiang, JR Greene, L Wang - Mammalian Genome, 2002 - springerlink.com
... NF1 NFY 490.5 Oct-1 TCF11 123.3 MEF2 TATA 45.9 ELK1 SP1 24.6 ... PAX2 TCF11
426.5 COUP RORA1 104.0 SRF TATA 43.7 BRN2 CDPCR3HD 23.7 ...
Cited by 10 - Web Search - ncbi.nlm.nih.gov

Developmental Neurogenetics and Neuro-Ophthalmology.
JL Bennett - Journal of Neuro-Ophthalmology, 2002 - jneuro-ophthalmology.com
... Iris colobomas have not been documented with Pax2 mutations. ... The diagnostic criteria
for neurofibromatosis Type 1 (NF1) includes two or more of the following ...
Cited by 3 - Web Search - jneuro-ophthalmology.com - ncbi.nlm.nih.gov - Get it from MIT Libraries

Status of the Human Malformation Map: 2002
JC CAREY, DH VISKOCHIL - American Journal of Medical Genetics (Semin. Med. Genet.), 2002 - doi.wiley.com
... eg PAX genes), growth factors and signaling molecules (Sonic hedgehog), ligands
(FGFR1-3), signal transduction pathway genes (NF1), extracellular matrix ...
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Online analysis of development - Full text - MIT Libraries
PD Vize - BioEssays, 2001 - doi.wiley.com
... http://www.xenbase.org/atlas/NF/NF1±10.html ... If one database calls a particular gene
pax-2 while another calls its orthologue pax2, a cross-database search ...
Web Search - doi.wiley.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Pax3 and the splotch mutations: structure, function, and relationship to teratogenesis, including …
AF Machado, LJ Martin, MD Collins - Curr. Pharm. Design, 2001 - ingentaconnect.com
... Pax2 1Nen[78] , Krd [145] Pax2 knockout [244] ... As noted for Pax2 and Pax5, functional
redundancy also has been reported for Pax1 and Pax9 [216]. ...
Cited by 7 - Web Search - bentham.org - bentham.org - ncbi.nlm.nih.gov - Get it from MIT Libraries

CORRECTION OF URETHRAL DIVERTICULA FOLLOWING HYPOSPADIAS REPAIR.
IOFRRI IN, CSFV REFLUX, AOFOOFP PYELOPLASTY, ISPRS … - The Journal of Urology-, 1999 - jurology.com
... TRANSITIONAL CELL CARCINOGENESIS IS ASSOCIATED WITH DOWN-REGULATION OF NF1 TUMOR
SUPPRESSOR ... 123, THE DEVELOPMENTAL AND ONCOGENIC GENES PAX2, 5 & 8 ARE EXPRESSED ...
Web Search - jurology.com

A statistical analysis of the TRANSFAC database.
GB Fogel, DG Weekes, G Varga, ER Dow, AM Craven, … - Biosystems, 2005 - natural-selection.com
... MEF-2 MEF2 03 Myogenic MADS factor MEF-2 MEF2 04 Myogenic MADS factor MEF-2 MINI20
B Muscle initiator sequence-20 MUSCLE INI B Muscle initiator NF1 Q6 Nuclear ...
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The inherited susceptibility to cancer - Full text - MIT Libraries
P Guilford - Cell Mol Life Sci, 2000 - springerlink.com
... NF1: neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is an autosomal domi-
nant disorder whose clinical features include neuro- fibromas, café-au-lait ...
Cited by 4 - Web Search - ncbi.nlm.nih.gov

Summary of ocular genetic disorders and inherited systemic conditions with eye findings
IM MacDonald, PM Haney, MA Musarella - Ophthalmic Genetics, 1998 - taylorandfrancis.metapress.com
... 120330 PAX2 (167409) 10q24.3-q25.1 190,191 ... 302350 Xp22.3-p22.2 233 Neurofibromatosis:
NF1- von Recklinghausen 162200 neurofibromin 17q11.2 234,235 ...
Cited by 8 - Web Search - ingentaconnect.com - extenza-eps.com - szp.swets.nl - all 6 versions »

Structural and functional characterization of the human PAX7 5 0-flanking regulatory region - Full text - MIT Libraries
YV Syagailo, O Okladnova, E Reimer, M Graessle, R … - Gene, 2002 - uni-wuerzburg.de
... includ- ing Oct-1 (consensus binding motif NNGAATATKCANN- NN), NF1 (core string ... cal
TATA box and resembles previously described TATA- less human PAX2 and mouse ...
Cited by 2 - View as HTML - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - all 4 versions »

Comparative map between the domestic pig and dog - Full text - MIT Libraries
LS Biltueva, F Yang, NV Vorobieva, AS Graphodatsky - Mammalian Genome, 2004 - springerlink.com
... 12 pter–p1.2 9 17p13–q NF1: HSA17q11.2–CFA9–SSC12; GAS: HSA17q21–CFA9 ...
q2.3–q2.5 4 10q11.2–q22 q2.5–qter 31 10q23–qter PAX2: HSA10q24–CFA31 ...
Web Search - ncbi.nlm.nih.gov

Summary of heritable ocular disorders and selected systemic conditions with eye findings
IM MacDonald, DY Mah - Ophthalmic Genetics, 2000 - taylorandfrancis.metapress.com
... Coloboma of optic nerve with renal disease (ONCR) 120330 PAX2 (167409)
10q24.3-q25.1 264,265 ... 302350 Xp22.3-p22.2 328 Neurofibromatosis: NF1- von Recklinghausen ...
Cited by 2 - Web Search - ingentaconnect.com - extenza-eps.com - szp.swets.nl - all 6 versions »

The 18 thAnnual Meeting of the Japanese Society for Pigment Cell Research November 27-28, 2004 … - Full text - MIT Libraries
G Eguchi, T Taga, DC Bennett, VC Gray-Schopfer, … - Pigment Cell Research, 2004 - blackwell-synergy.com
... Pax2 is normally a ventral-specific gene in the optic cup while Fgf8 is ... Neurofibromin,
the NF1 gene product, is a major negative regulator of the Ras pathway ...
Web Search - ncbi.nlm.nih.gov

The 18 thAnnual Meeting of the - Full text - MIT Libraries
J Kumamoto - Pigment Cell Res, 2004 - ingentaconnect.com
Page 1. The 18 th Annual Meeting of the Japanese Society for Pigment Cell
Research November 27–28, 2004 Kumamoto, Japan Conference ...
Web Search

Factores de riesgo asociados a sarcomas de partes blandas pediatricos
JF i Tortajada, JAO Garcia, JAL Andreu, JG i … - Rev Esp Pediatr, 2001 - pehsu.org
... t (1;13) FKHR en cromosoma 13 y PAX 3 en cromosoma 2 ó PAX2 en cromosoma ... AD P53 RMS –
Retinoblastoma AD RTB RMS, FS Lipomas Neurofibromatosis AD NF1 NFS, NF ...
Cited by 1 - View as HTML - Web Search - pehsu.org

Mouse models of human disease. Part II: recent progress and future directions - Full text - MIT Libraries
MA Bedell, DA Largaespada, NA Jenkins, NG Copeland - Genes Dev, 1997 - genesdev.org
... Pax2 krd, Paired box homeotic gene 2, TI, Optic nerve coloboma w/renal ... Nf1,
Neurofibromatosis type 1, K, Neurofibromatosis type 1, 162200, *Gutmann and Collins ( ...
Cited by 52 - Web Search - genesdev.org - cshl.org - ncbi.nlm.nih.gov

Publicaties CME-UZ–UZ Leuven-1998-2004
S CLAES, T AGUIRRE, V SIMOSA, T BUSTOS, R LANDER, … - Am. J. Surg. Pathol, 1998 - uzleuven.be
... G., VAN DAMME, B., VAN CAESBROECK, D., ECCLES, M., VANRENTERGHEM, Y., FRYNS, JP,
LEYS, A. Missense mutation and hexanucleotide duplication in the PAX2 gene in ...
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M OLECULAR G ENETICS AND P ATHOGENESIS OF A UTOSOMAL D OMINANT P OLYCYSTIC K IDNEY D ISEASE - Full text - MIT Libraries
MA Arnaout - Annual Review of Medicine, 2001 - med.annualreviews.org
Annual Reviews tagline graphic, ...
Cited by 36 - Web Search - med.annualreviews.org - receptor.mgh.harvard.edu - ncbi.nlm.nih.gov

Targeted insertion results in a rhombomere 2-specific Hoxa2 knockdown and ectopic activation of Hoxa … - Full text - MIT Libraries
SY Ren, PO Angrand, FM Rijli - Dev. Dyn, 2002 - doi.wiley.com
Page 1. Targeted Insertion Results in a Rhombomere 2-Specific Hoxa2 Knockdown and
Ectopic Activation of Hoxa1 Expression SHU-YUE REN, PIERRE-OLIVIER ANGRAND, ...
Cited by 4 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Evaluation of the host transcriptional response to human cytomegalovirus infection - Full text - MIT Libraries
JF Challacombe, A Rechtsteiner, R Gottardo, LM … - Physiological Genomics, 2004 - physiolgenomics.physiology.org
Page 1. Evaluation of the host transcriptional response to human cytomegalovirus
infection Jean F. Challacombe 1 , Andreas Rechtsteiner ...
Web Search - stat.washington.edu - intl-physiolgenomics.physiology.org - ncbi.nlm.nih.gov - all 6 versions »