Search Results - "Pyatt RE"

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.

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. Jun2012, Vol. 81 Issue 6, p578-583. 6p. 1 Chart, 1 Graph.

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.

Authors: Cherukuri PF Soe MM Condon DE et al.

Source: BMC medical genomics [BMC Med Genomics] 2022 Mar 14; Vol. 15 (1), pp. 56. Date of Electronic Publication: 2022 Mar 14.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Understanding BRCA Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.

Authors: Hovick SR Tan N Morr L et al.

Source: Journal of health communication [J Health Commun] 2019; Vol. 24 (4), pp. 377-384. Date of Electronic Publication: 2019 May 06.

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

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9604100 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1087-0415 (Electronic) Linking ISSN: 10810730 NLM ISO Abbreviation: J Health Commun

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.

Authors: Kekis M Deeg C Hashimoto S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Apr; Vol. 173 (4), pp. 1056-1060.

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

Impact of variant reclassification in the clinical setting of cardiovascular genetics.

Authors: VanDyke RE Hashimoto S Morales A et al.

Source: Journal of genetic counseling [J Genet Couns] 2021 Apr; Vol. 30 (2), pp. 503-512. Date of Electronic Publication: 2020 Oct 07.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Authors: Mullegama SV Rosenfeld JA Orellana C et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jan; Vol. 22 (1), pp. 57-63. Date of Electronic Publication: 2013 May 01.

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

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

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

Authors: Alyaqoub F Pyatt RE Bailes A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Nov; Vol. 158A (11), pp. 2925-30. Date of Electronic Publication: 2012 Sep 14.

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

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

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

Authors: Repnikova EA Astbury C Reshmi SC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Aug; Vol. 158A (8), pp. 1924-33. Date of Electronic Publication: 2012 Jul 11.

Publication Type: Comparative Study; 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

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Authors: Repnikova EA Lyalin DA McDonald K et al.

Source: European journal of medical genetics [Eur J Med Genet] 2020 Jan; Vol. 63 (1), pp. 103636. Date of Electronic Publication: 2019 Mar 02.

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

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Authors: Walters-Sen LC Hashimoto S Thrush DL et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2015 Mar; Vol. 3 (2), pp. 99-110. Date of Electronic Publication: 2014 Dec 03.

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

Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix.

Authors: Burnside MN Pyatt RE Hughes A et al.

Source: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2015 Jan-Feb; Vol. 18 (1), pp. 59-65. Date of Electronic Publication: 2014 Oct 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1093-5266 (Print) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Authors: Walters-Sen LC Thrush DL Hickey SE et al.

Source: European journal of medical genetics [Eur J Med Genet] 2014 Jul; Vol. 57 (7), pp. 315-8. Date of Electronic Publication: 2014 May 10.

Publication Type: Case Reports; 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

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Authors: Repnikova EA Rosenfeld JA Bailes A et al.

Source: Forensic science international. Genetics [Forensic Sci Int Genet] 2013 Sep; Vol. 7 (5), pp. 475-81. Date of Electronic Publication: 2013 Jun 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101317016 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0326 (Electronic) Linking ISSN: 18724973 NLM ISO Abbreviation: Forensic Sci Int Genet Subsets: MEDLINE

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Authors: Hickey SE Biswas S Thrush DL et al.

Source: European journal of medical genetics [Eur J Med Genet] 2013 Sep; Vol. 56 (9), pp. 521-5. Date of Electronic Publication: 2013 Jul 26.

Publication Type: Case Reports; 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

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authors: Beunders G Voorhoeve E Golzio C et al.

Source: American journal of human genetics [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 210-20. Date of Electronic Publication: 2013 Jan 17.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.

Authors: Pyatt RE Astbury C

Source: Clinics in laboratory medicine [Clin Lab Med] 2011 Dec; Vol. 31 (4), pp. 565-80, viii.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Health Sciences Division Country of Publication: United States NLM ID: 8100174 Publication Model: Print Cited Medium: Internet ISSN: 1557-9832 (Electronic) Linking ISSN: 02722712 NLM ISO Abbreviation: Clin Lab Med Subsets: MEDLINE

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Authors: Talkowski ME Mullegama SV Rosenfeld JA et al.

Source: American journal of human genetics [Am J Hum Genet] 2011 Oct 07; Vol. 89 (4), pp. 551-63.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

Authors: Kalman L Leonard J Gerry N et al.

Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2011 Mar; Vol. 13 (2), pp. 167-74.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Newborn and carrier screening for spinal muscular atrophy.

Authors: Prior TW Snyder PJ Rink BD et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2010 Jul; Vol. 152A (7), pp. 1608-16.

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

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