Search Results - "Pyatt R"

D.P.4 Comparison of commercially-available exome capture kits in the diagnosis of neuromuscular disorders

Authors: Flanigan, K.M. Gastier-Foster, J. Pyatt, R. et al.

Source: Neuromuscular Disorders. Oct2012, Vol. 22 Issue 9/10, p808-808. 1p.

The Clinical Application of Refined Risk Estimates (caRe) Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial.

Authors: Senter L Hovick S Notestine R et al.

Source: Cancer prevention research (Philadelphia, Pa.) [Cancer Prev Res (Phila)] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.

Publication Type: Journal Article

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101479409 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-6215 (Electronic) Linking ISSN: 19406215 NLM ISO Abbreviation: Cancer Prev Res (Phila) Subsets: MEDLINE

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Authors: Santoro SL Hashimoto S McKinney A et al.

Source: Cytogenetic and genome research [Cytogenet Genome Res] 2017; Vol. 152 (2), pp. 105-109. Date of Electronic Publication: 2017 Jul 27.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Disparities in the Use of Emergency Department Advanced Imaging in Medicare Beneficiaries.

Authors: Hanna TN Friedberg E Dequesada IM et al.

Source: AJR. American journal of roentgenology [AJR Am J Roentgenol] 2021 Feb; Vol. 216 (2), pp. 519-525. Date of Electronic Publication: 2020 Dec 23.

Publication Type: Journal Article

Journal Info: Publisher: American Roentgen Ray Society Country of Publication: United States NLM ID: 7708173 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-3141 (Electronic) Linking ISSN: 0361803X NLM ISO Abbreviation: AJR Am J Roentgenol Subsets: MEDLINE

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Authors: Polan MB Pastore MT Steingass K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jan; Vol. 22 (1), pp. 105-9. Date of Electronic Publication: 2013 May 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

Authors: Hickey SE Walters-Sen L Mosher TM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Sep; Vol. 161A (9), pp. 2294-9. Date of Electronic Publication: 2013 Jul 29.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.

Authors: Rosales XQ Malik V Sneh A et al.

Source: Muscle & nerve [Muscle Nerve] 2013 May; Vol. 47 (5), pp. 731-9. Date of Electronic Publication: 2013 Mar 29.

Publication Type: Journal Article; 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

Locoregional MYCN-amplified neuroblastoma.

Authors: Morales La Madrid A Volchenboum S Gastier-Foster JM et al.

Source: Pediatric blood & cancer [Pediatr Blood Cancer] 2012 Oct; Vol. 59 (4), pp. 736-8. Date of Electronic Publication: 2012 Jan 01.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.

Authors: Cottrell CE Mendell J Hart-Kothari M et al.

Source: Clinical genetics [Clin Genet] 2012 Jun; Vol. 81 (6), pp. 578-83. Date of Electronic Publication: 2011 May 04.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

White Paper: Corporatization in Radiology.

Authors: Fleishon HB Vijayasarathi A Pyatt R et al.

Source: Journal of the American College of Radiology : JACR [J Am Coll Radiol] 2019 Oct; Vol. 16 (10), pp. 1364-1374. Date of Electronic Publication: 2019 Aug 16.

Publication Type: Journal Article; Consensus Statement

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101190326 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-349X (Electronic) Linking ISSN: 15461440 NLM ISO Abbreviation: J Am Coll Radiol Subsets: MEDLINE

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 [Clin Genet] 2003 Mar; Vol. 63 (3), pp. 215-8.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Access to Interventional Radiology Services in Small Hospitals and Rural Communities: An ACR Membership Intercommission Survey.

Authors: Friedberg EB Corn D Prologo JD et al.

Source: Journal of the American College of Radiology : JACR [J Am Coll Radiol] 2019 Feb; Vol. 16 (2), pp. 185-193. Date of Electronic Publication: 2018 Dec 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101190326 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-349X (Electronic) Linking ISSN: 15461440 NLM ISO Abbreviation: J Am Coll Radiol

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Authors: Barrie ES Li Y Lamb-Thrush D et al.

Source: European journal of medical genetics [Eur J Med Genet] 2018 Jul; Vol. 61 (7), pp. 416-420. Date of Electronic Publication: 2018 Mar 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Authors: Al-Zaidy SA Malik V Kneile K et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2015 Mar; Vol. 3 (2), pp. 92-8. Date of Electronic Publication: 2015 Jan 08.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Authors: Cottrell CE Prior TW Pyatt R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2010 Sep; Vol. 152A (9), pp. 2301-7.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Novel diagnostic features of dysferlinopathies.

Authors: Rosales XQ Gastier-Foster JM Lewis S et al.

Source: Muscle & nerve [Muscle Nerve] 2010 Jul; Vol. 42 (1), pp. 14-21.

Publication Type: Journal Article; 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 Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

Authors: Kerstann KF Feingold E Freeman SB et al.

Source: Genetic epidemiology [Genet Epidemiol] 2004 Nov; Vol. 27 (3), pp. 240-51.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8411723 Publication Model: Print Cited Medium: Print ISSN: 0741-0395 (Print) Linking ISSN: 07410395 NLM ISO Abbreviation: Genet Epidemiol Subsets: MEDLINE

Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.

Authors: Chadwick RB Pyatt RE Niemann TH et al.

Source: Journal of medical genetics [J Med Genet] 2001 Jul; Vol. 38 (7), pp. 461-6.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria.

Authors: Adebamowo CA Adeyi O Pyatt R et al.

Source: African journal of medicine and medical sciences [Afr J Med Med Sci] 2000 Mar; Vol. 29 (1), pp. 71-3.

Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: College of Medicine, University of Ibadan and the University College Hospital Country of Publication: Nigeria NLM ID: 7801013 Publication Model: Print Cited Medium: Print ISSN: 0309-3913 (Print) Linking ISSN: 03093913 NLM ISO Abbreviation: Afr J Med Med Sci Subsets: MEDLINE

Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing.

Authors: Pyatt R Chadwick RB Johnson CK et al.

Source: The American journal of pathology [Am J Pathol] 1999 Aug; Vol. 155 (2), pp. 349-53.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0370502 Publication Model: Print Cited Medium: Print ISSN: 0002-9440 (Print) Linking ISSN: 00029440 NLM ISO Abbreviation: Am J Pathol Subsets: MEDLINE