Search Results - "Prior TW"

Somatic acquisition and signaling of TGFBR1*6A in cancer.

Authors: Pasche B Knobloch TJ Bian Y et al.

Source: JAMA: Journal of the American Medical Association. 10/5/2005, Vol. 294 Issue 13, p1634-1646. 13p.

URL: 18461462

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Authors: Hampel H Frankel WL Martin E et al.

Source: New England Journal of Medicine. 5/5/2005, Vol. 352 Issue 18, p1851-1940. 14p.

Identification of a deletion in the mismatch repair gene, MSH2, using mouse–human cell hybrids monosomal for chromosome 2.

Authors: Pyatt, RE Nakagawa, H Hampel, H et al.

Source: Clinical Genetics. Mar2003, Vol. 63 Issue 3, p215-218. 4p.

PTEN mosaicism with features of Cowden syndrome.

Authors: Gammon, A Jasperson, K Pilarski, R et al.

Source: Clinical Genetics. Dec2013, Vol. 84 Issue 6, p593-595. 3p.

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

Authors: Miller CR Fang J Snyder P et al.

Source: Human mutation [Hum Mutat] 2023 Oct 19; Vol. 2023, pp. 6436853. Date of Electronic Publication: 2023 Oct 19 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.

Authors: Berisha SZ Shetty S Prior TW et al.

Source: Birth defects research [Birth Defects Res] 2020 Mar 01; Vol. 112 (4), pp. 293-306.

Publication Type: Journal Article; Review

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy.

Authors: Elsheikh B King W Peng J et al.

Source: Muscle & nerve [Muscle Nerve] 2020 Feb; Vol. 61 (2), pp. 187-191. Date of Electronic Publication: 2019 Dec 11.

Publication Type: Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.

Authors: Ramos DM d'Ydewalle C Gabbeta V et al.

Source: The Journal of clinical investigation [J Clin Invest] 2019 Nov 01; Vol. 129 (11), pp. 4817-4831.

Publication Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Authors: Ruhno C McGovern VL Avenarius MR et al.

Source: Human genetics [Hum Genet] 2019 Mar; Vol. 138 (3), pp. 241-256. Date of Electronic Publication: 2019 Feb 20.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Authors: Jahn N Jahn E Saadati M et al.

Source: Leukemia [Leukemia] 2022 Sep; Vol. 36 (9), pp. 2218-2227. Date of Electronic Publication: 2022 Aug 03.

Publication Type: Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Authors: Krosschell KJ Kissel JT Townsend EL et al.

Corporate Authors: Krosschell KJ Kissel JT Townsend EL et al.

Source: Muscle & nerve [Muscle Nerve] 2018 Feb; Vol. 57 (2), pp. 193-199. Date of Electronic Publication: 2017 Sep 18.

Publication Type: Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Natural history of infantile-onset spinal muscular atrophy.

Authors: Kolb SJ Coffey CS Yankey JW et al.

Corporate Authors: Kolb SJ Coffey CS Yankey JW et al.

Source: Annals of neurology [Ann Neurol] 2017 Dec; Vol. 82 (6), pp. 883-891. Date of Electronic Publication: 2017 Dec 08.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Authors: Iyadurai S Arnold WD Kissel JT et al.

Source: Muscle & nerve [Muscle Nerve] 2017 Aug; Vol. 56 (2), pp. 341-345. Date of Electronic Publication: 2017 Feb 20.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Molecular landscape and prognostic impact of FLT3-ITD insertion site in acute myeloid leukemia: RATIFY study results.

Authors: Rücker FG Du L Luck TJ et al.

Source: Leukemia [Leukemia] 2022 Jan; Vol. 36 (1), pp. 90-99. Date of Electronic Publication: 2021 Jul 28.

Publication Type: Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.

Authors: Brennecke N Cali I Mok TH et al.

Source: Viruses [Viruses] 2021 Sep 08; Vol. 13 (9). Date of Electronic Publication: 2021 Sep 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101509722 Publication Model: Electronic Cited Medium: Internet ISSN: 1999-4915 (Electronic) Linking ISSN: 19994915 NLM ISO Abbreviation: Viruses Subsets: MEDLINE

Midostaurin reduces relapse in FLT3-mutant acute myeloid leukemia: the Alliance CALGB 10603/RATIFY trial.

Authors: Larson RA Mandrekar SJ Huebner LJ et al.

Source: Leukemia [Leukemia] 2021 Sep; Vol. 35 (9), pp. 2539-2551. Date of Electronic Publication: 2021 Mar 02.

Publication Type: Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Authors: Wu X Wang SH Sun J et al.

Source: Human molecular genetics [Hum Mol Genet] 2017 Jul 15; Vol. 26 (14), pp. 2768-2780.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes.

Authors: Mehta N Chacko P Jin J et al.

Source: Texas Heart Institute journal [Tex Heart Inst J] 2016 Aug 01; Vol. 43 (4), pp. 305-10. Date of Electronic Publication: 2016 Aug 01 (Print Publication: 2016).

Publication Type: Journal Article

Journal Info: Publisher: published in the Cardiovascular Surgical Research Laboratories, Texas Heart Institute Country of Publication: United States NLM ID: 8214622 Publication Model: eCollection Cited Medium: Internet ISSN: 1526-6702 (Electronic) Linking ISSN: 07302347 NLM ISO Abbreviation: Tex Heart Inst J Subsets: MEDLINE

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.

Authors: Zaworski P von Herrmann KM Taylor S et al.

Source: PloS one [PLoS One] 2016 Mar 08; Vol. 11 (3), pp. e0150640. Date of Electronic Publication: 2016 Mar 08 (Print Publication: 2016).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Authors: Pearlman R Frankel WL Swanson BJ et al.

Source: JCO precision oncology [JCO Precis Oncol] 2021 May 05; Vol. 5. Date of Electronic Publication: 2021 May 05 (Print Publication: 2021).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4284 (Electronic) Linking ISSN: 24734284 NLM ISO Abbreviation: JCO Precis Oncol