Search Results - "Schmitz, Christopher T" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

by Schultz-Rogers, Laura, Lach, Francis P, Rickman, Kimberly A, Ferrer, Alejandro, Mangaonkar, Abhishek A, Schwab, Tanya L, Schmitz, Christopher T, Clark, Karl J, Dsouza, Nikita R, Zimmermann, Michael T, Litzow, Mark, Jacobi, Nicole, Klee, Eric W, Smogorzewska, Agata, Patnaik, Mrinal M
Published in Haematologica (Roma) (01.04.2021)

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Atlas of Wnt and R‐spondin gene expression in the developing male mouse lower urogenital tract

Atlas of Wnt and R‐spondin gene expression in the developing male mouse lower urogenital tract

by Mehta, Vatsal, Abler, Lisa L., Keil, Kimberly P., Schmitz, Christopher T., Joshi, Pinak S., Vezina, Chad M.
Published in Developmental dynamics (01.11.2011)

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Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

by Pinto E Vairo, Filippo, Pichurin, Pavel N, Fervenza, Fernando C, Nasr, Samih H, Mills, Kevin, Schmitz, Christopher T, Klee, Eric W, Herrmann, Sandra M
Published in BMC nephrology (13.08.2020)

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Wnt Inhibitory Factor 1 (Wif1) Is Regulated by Androgens and Enhances Androgen-Dependent Prostate Development

Wnt Inhibitory Factor 1 (Wif1) Is Regulated by Androgens and Enhances Androgen-Dependent Prostate Development

by Keil, Kimberly P, Mehta, Vatsal, Branam, Amanda M, Abler, Lisa L, Buresh-Stiemke, Rita A, Joshi, Pinak S, Schmitz, Christopher T, Marker, Paul C, Vezina, Chad M
Published in Endocrinology (Philadelphia) (01.12.2012)

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A high‐resolution molecular atlas of the fetal mouse lower urogenital tract

A high‐resolution molecular atlas of the fetal mouse lower urogenital tract

by Abler, Lisa L., Keil, Kimberly P., Mehta, Vatsal, Joshi, Pinak S., Schmitz, Christopher T., Vezina, Chad M.
Published in Developmental dynamics (01.10.2011)

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Beta-catenin (CTNNB1) induces Bmp expression in urogenital sinus epithelium and participates in prostatic bud initiation and patterning

Beta-catenin (CTNNB1) induces Bmp expression in urogenital sinus epithelium and participates in prostatic bud initiation and patterning

by Mehta, Vatsal, Schmitz, Christopher T., Keil, Kimberly P., Joshi, Pinak S., Abler, Lisa L., Lin, Tien-Min, Taketo, Makoto M., Sun, Xin, Vezina, Chad M.
Published in Developmental biology (15.04.2013)

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$Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report$

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

by Wilke, Matheus V. M. B., Morava-Kozicz, Eva, Koster, Matthew J., Schmitz, Christopher T., Foster, Shannon Kaye, Patnaik, Mrinal, Warrington, Kenneth J., Klee, Eric W., Pinto e Vairo, Filippo
Published in BMC rheumatology (30.08.2022)

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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

by Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.
Published in Molecular genetics & genomic medicine (01.07.2022)

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Visualization and quantification of mouse prostate development by in situ hybridization

Visualization and quantification of mouse prostate development by in situ hybridization

by Keil, Kimberly P., Mehta, Vatsal, Abler, Lisa L., Joshi, Pinak S., Schmitz, Christopher T., Vezina, Chad M.
Published in Differentiation (London) (01.10.2012)

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Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

by Schultz‐Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A., Klee, Eric W.
Published in Molecular genetics & genomic medicine (01.11.2020)

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TREM2 Protein Expression Changes Correlate with Alzheimer's Disease Neurodegenerative Pathologies in Post-Mortem Temporal Cortices

TREM2 Protein Expression Changes Correlate with Alzheimer's Disease Neurodegenerative Pathologies in Post-Mortem Temporal Cortices

by Lue, Lih-Fen, Schmitz, Christopher T., Serrano, Geidy, Sue, Lucia I., Beach, Thomas G., Walker, Douglas G.
Published in Brain pathology (Zurich, Switzerland) (01.07.2015)

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Cortical phosphorylated [alpha]-Synuclein levels correlate with brain wave spectra in Parkinson's disease

Cortical phosphorylated [alpha]-Synuclein levels correlate with brain wave spectra in Parkinson's disease

by Caviness, John N, Lue, Lih-Fen, Hentz, Joseph G, Schmitz, Christopher T, Adler, Charles H, Shill, Holly A, Sabbagh, Marwan N, Beach, Thomas G, Walker, Douglas G
Published in Movement disorders (01.07.2016)

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Cortical phosphorylated α-Synuclein levels correlate with brain wave spectra in Parkinson's disease

Cortical phosphorylated α-Synuclein levels correlate with brain wave spectra in Parkinson's disease

by Caviness, John N., Lue, Lih-Fen, Hentz, Joseph G., Schmitz, Christopher T., Adler, Charles H., Shill, Holly A., Sabbagh, Marwan N., Beach, Thomas G., Walker, Douglas G.
Published in Movement disorders (01.07.2016)

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A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

by Macke, Erica L, Morales-Rosado, Joel A, Gupta, Aditi, Schmitz, Christopher T, Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric W
Published in Cold Spring Harbor molecular case studies (01.08.2020)

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A high throughput in situ hybridization method to characterize mRNA expression patterns in the fetal mouse lower urogenital tract

A high throughput in situ hybridization method to characterize mRNA expression patterns in the fetal mouse lower urogenital tract

by Abler, Lisa L, Mehta, Vatsal, Keil, Kimberly P, Joshi, Pinak S, Flucus, Chelsea-Leigh, Hardin, Heather A, Schmitz, Christopher T, Vezina, Chad M
Published in Journal of visualized experiments (19.08.2011)

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Converging mediators from immune and trophic pathways to identify Parkinson disease dementia

Converging mediators from immune and trophic pathways to identify Parkinson disease dementia

by Lue, Lih-Fen, Schmitz, Christopher T, Snyder, Noelle L, Chen, Kewei, Walker, Douglas G, Davis, Kathryn J, Belden, Christine, Caviness, John N, Driver-Dunckley, Erika, Adler, Charles H, Sabbagh, Marwan N, Shill, Holly A
Published in Neurology : neuroimmunology & neuroinflammation (01.02.2016)

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Targeting Oncogenic Enhancers in ASXL1-Mutant Chronic Myelomonocytic Leukemia

Targeting Oncogenic Enhancers in ASXL1-Mutant Chronic Myelomonocytic Leukemia

by Lasho, Terra L, Finke, Christy M, Fernandez, Jenna A., Schmitz, Christopher T., Clark, Karl J., Wahlestedt, Claes, Chiao, Judy, Mangaonkar, Abhishek A, Patnaik, Mrinal M., Binder, Moritz
Published in Blood (02.11.2023)

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Functional Testing of Variants of Uncertain Significance in TERC, TERT,and RTEL1 from Adult Patients with Telomere Biology Disorders

Functional Testing of Variants of Uncertain Significance in TERC, TERT,and RTEL1 from Adult Patients with Telomere Biology Disorders

by Simon, Rachel A, Finke, Christy M, Lasho, Terra L, Schmitz, Christopher T., Fernandez, Jenna A, Carmona-Porquera, Eva M, Wylam, Mark E, Witzig, Thomas E., McAllister, Tammy M, Rohrer Vitek, Carolyn R., Lazaridis, Konstantinos N, Mangaonkar, Abhishek A, Patnaik, Mrinal M., Ferrer, Alejandro
Published in Blood (02.11.2023)

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Cortical phosphorylated α-Synuclein levels correlate with brain wave spectra in Parkinson's disease: Biochemical Correlates of Brain Waves

Cortical phosphorylated α-Synuclein levels correlate with brain wave spectra in Parkinson's disease: Biochemical Correlates of Brain Waves

by Caviness, John N., Lue, Lih-Fen, Hentz, Joseph G., Schmitz, Christopher T., Adler, Charles H., Shill, Holly A., Sabbagh, Marwan N., Beach, Thomas G., Walker, Douglas G.
Published in Movement disorders (01.07.2016)

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TREM 2 Protein Expression Changes Correlate with A lzheimer's Disease Neurodegenerative Pathologies in Post‐Mortem Temporal Cortices

TREM 2 Protein Expression Changes Correlate with A lzheimer's Disease Neurodegenerative Pathologies in Post‐Mortem Temporal Cortices

by Lue, Lih‐Fen, Schmitz, Christopher T., Serrano, Geidy, Sue, Lucia I., Beach, Thomas G., Walker, Douglas G.
Published in Brain pathology (Zurich, Switzerland) (01.07.2015)

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