Molecular Basis of Giant Cells in Tuberous Sclerosis ComplexKWIATKOWSKI, David J; MANNING, Brendan D.The New England journal of medicine. 2014, Vol 371, Num 8, pp 778-780, issn 0028-4793, 3 p.Article

Tuberous sclerosis : a GAP at the crossroads of multiple signaling pathwaysKWIATKOWSKI, David J; MANNING, Brendan D.Human molecular genetics (Print). 2005, Vol 14, pp R251-R258, issn 0964-6906, NSArticle

Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma : A tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosisEL-HASHEMITE, Nisreen; WALKER, Victoria; KWIATKOWSKI, David J et al.Cancer research (Baltimore). 2005, Vol 65, Num 6, pp 2474-2481, issn 0008-5472, 8 p.Article

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay : Absence of hot spotsKOZLOWSKI, Piotr; BISSLER, John; PEI, York et al.Genomics (San Diego, Calif.). 2008, Vol 91, Num 2, pp 203-208, issn 0888-7543, 6 p.Article

Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycinEL-HASHEMITE, Nisreen; WALKER, Victoria; HONGBING ZHANG et al.Cancer research (Baltimore). 2003, Vol 63, Num 17, pp 5173-5177, issn 0008-5472, 5 p.Article

Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assayKOZLOWSKI, Piotr; MEI LIN; MEIKLE, Lynsey et al.BioTechniques. 2007, Vol 42, Num 5, issn 0736-6205, 584-588 [3 p.]Article

Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complexANDERL, Stefanie; FREELAND, Megan; KWIATKOWSKI, David J et al.Human molecular genetics (Print). 2011, Vol 20, Num 23, pp 4597-4604, issn 0964-6906, 8 p.Article

Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flapPAUL, Subroto; SU, Stacey; EDENFIELD, Heather et al.Journal of thoracic and cardiovascular surgery (Print). 2009, Vol 138, Num 2, pp 497-498, issn 0022-5223, 2 p.Article

ADAM33 polymorphisms and phenotype associations in childhood asthmaRABY, Benjamin A; SILVERMAN, Edwin K; KWIATKOWSKI, David J et al.Journal of allergy and clinical immunology. 2004, Vol 113, Num 6, pp 1071-1078, issn 0091-6749, 8 p.Article

Single-nucleotide polymorphisms in the interleukin-10 gene: Differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groupsLAZARUS, Ross; KLIMECKI, Walter T; PALMER, Lyle J et al.Genomics (San Diego, Calif.). 2002, Vol 80, Num 2, pp 223-228, issn 0888-7543, 6 p.Article

Genotype and cognitive phenotype of patients with tuberous sclerosis complexEEGHEN, Agnies M.van; BLACK, Margaux E; PULSIFER, Margaret B et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 510-515, issn 1018-4813, 6 p.Article

Clinical Activity of mTOR Inhibition With Sirolimus in Malignant Perivascular Epithelioid Cell Tumors: Targeting the Pathogenic Activation of mTORC1 in TumorsWAGNER, Andrew J; MALINOWSKA-KOLODZIEJ, Izabela; KWIATKOWSKI, David J et al.Journal of clinical oncology. 2010, Vol 28, Num 5, pp 835-840, issn 0732-183X, 6 p.Article

A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 allelesPOLLIZZI, Kristen; MALINOWSKA-KOLODZIEJ, Izabela; DOUGHTY, Cheryl et al.Human molecular genetics (Print). 2009, Vol 18, Num 13, pp 2378-2387, issn 0964-6906, 10 p.Article

LKB1 modulates lung cancer differentiation and metastasisHONGBIN JI; RAMSEY, Matthew R; LIANG, Mei-Chih et al.Nature (London). 2007, Vol 448, Num 7155, pp 807-810, issn 0028-0836, 4 p.Article

Selective inhibition of growth of tuberous sclerosis complex 2-null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activityFINLAY, Geraldine A; MALHOWSKI, Amy J; YINGLING LIU et al.Cancer research (Baltimore). 2007, Vol 67, Num 20, pp 9878-9886, issn 0008-5472, 9 p.Article

Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studiesSONG, Yiqing; NIU, Tianhua; MANSON, Joann E et al.American journal of human genetics. 2004, Vol 74, Num 2, pp 208-222, issn 0002-9297, 15 p.Article

The transforming growth factor-β1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD)CELEDON, Juan C; LANGE, Christoph; SYLVIA, Jody S et al.Human molecular genetics (Print). 2004, Vol 13, Num 15, pp 1649-1656, issn 0964-6906, 8 p.Article

Association between a high-expressing interferon-γ allele and a lower frequency of kidney angiomyolipomas in TSC2 patientsDABORA, Sandra L; ROBERTS, Penelope; NIETO, Andres et al.American journal of human genetics. 2002, Vol 71, Num 4, pp 750-758, issn 0002-9297, 9 p.Article

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesionsNIIDA, Yo; STEMMER-RACHAMIMOV, Anat O; LOGRIP, Marian et al.American journal of human genetics. 2001, Vol 69, Num 3, pp 493-503, issn 0002-9297Article

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsDABORA, Sandra L; JOZWIAK, Sergiusz; KASPRZYK-OBARA, Jolanta et al.American journal of human genetics. 2001, Vol 68, Num 1, pp 64-80, issn 0002-9297Conference Paper

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral featuresYUAN, Elizabeth; TSAI, Peter T; GREENE-COLOZZI, Emily et al.Human molecular genetics (Print). 2012, Vol 21, Num 19, pp 4286-4300, issn 0964-6906, 15 p.Article

Tuberous Sclerosis Complex 1: An Epithelial Tumor Suppressor Essential to Prevent Spontaneous Prostate Cancer in Aged MiceKLADNEY, Raleigh D; CARDIFF, Robert D; KWIATKOWSKI, David J et al.Cancer research (Chicago, Ill.). 2010, Vol 70, Num 21, pp 8937-8947, issn 0008-5472, 11 p.Article

Cell-Specific Alterations of Glutamate Receptor Expression in Tuberous Sclerosis Complex Cortical TubersTALOS, Delia M; KWIATKOWSKI, David J; CORDERO, Kathia et al.Annals of neurology. 2008, Vol 63, Num 4, pp 454-465, issn 0364-5134, 12 p.Article

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complexGOH, Suzanne; KWIATKOWSKI, David J; DORER, David J et al.Neurology. 2005, Vol 65, Num 2, pp 235-238, issn 0028-3878, 4 p.Article

Perturbed IFN-γ-jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: Synergistic effects of rapamycin-IFN-γ treatmentEL-HASHEMITE, Nisreen; HONGBING ZHANG; WALKER, Victoria et al.Cancer research (Baltimore). 2004, Vol 64, Num 10, pp 3436-3443, issn 0008-5472, 8 p.Article