McGinniss, Matthew J: search on Z-Library

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1

Emery and Rimoin's Principles and Practice of Medical Genetics || Heterozygote Testing and Carrier Screening

McGinniss, Matthew J.

Year:

2013

Language:

english

File:

PDF, 299 KB

english, 2013

2

In vivo hprt mutant frequencies in T-cells of normal human newborns

Matthew J. McGinniss, Michael T. Falta, Linda M. Sullivan, Richard J. Albertini

Journal:

Mutation Research/Genetic Toxicology

Year:

1990

Language:

english

File:

PDF, 795 KB

english, 1990

3

Phenolics in aquatic ecosystems: A selected review of recent literature

Arthur L Buikema Jr., Matthew J McGinniss, John Cairns Jr.

Journal:

Marine Environmental Research

Year:

1979

Language:

english

File:

PDF, 4.86 MB

english, 1979

4

Ring chromosome X in a child with manifestations of Kabuki syndrome

McGinniss, Matthew J., Brown, David H., Burke, Leah W., Mascarello, James T., Jones, Marilyn C.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 341 KB

english, 1997

5

Toxicity tests of aquatic pollutants usingChilomonas parameciumehrenberg (flagellata) populations

Robert A. Honig, Matthew J. McGinniss, Arthur L. Buikema, John Cairns

Journal:

Bulletin of Environmental Contamination and Toxicology

Year:

1980

Language:

english

File:

PDF, 368 KB

english, 1980

6

Microsatellites: perspectives and potentials of mass spectrometric analysis

van den Boom, Dirk, Jurinke, Christian, McGinniss, Matthew J, Berkenkamp, Stefan

Journal:

Expert Review of Molecular Diagnostics

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001

7

Eight novel mutations in the HEXA gene

Mcginniss, Matthew J, Brown, David H, Fulwiler, Andrea, Marten, Molly, Lim-Steele, Joyce S T, Kaback, Michael M

Journal:

Genetics in Medicine

Year:

2002

Language:

english

File:

PDF, 546 KB

english, 2002

8

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q– syndrome and a ring chromosome 21

Matthew J. McGinniss, Carla Rosenberg, Gail Stetten, Albert A. Schinzel, Franz Binkert, Michael B. Petersen, William G. Kearns, Haig H. Kazazian Jr., Peter L. Pearson, Stylianos E. Antonarakis

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 530 KB

english, 1993

9

Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples

Matthew J. McGinniss, Christina Chen, Joy B. Redman, Arlene Buller, Franklin Quan, Mei Peng, Robert Giusti, Feras M. Hantash, Donghui Huang, Weimin Sun, Charles M. Strom

Journal:

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

10

Complete hydatidiform mole with a coexistent embryo

Rebecca N Baergen, Thomas Kelly, Matthew J McGinniss, Oliver W Jones, Kurt Benirschke

Journal:

Human Pathology

Year:

1996

Language:

english

File:

PDF, 2.09 MB

english, 1996

11

Stratifying Risk for Celiac Disease in a Large At-Risk United States Population by Using HLA Alleles

Pietzak, Michelle M., Schofield, Timothy C., McGinniss, Matthew J., Nakamura, Robert M.

Journal:

Clinical Gastroenterology and Hepatology

Year:

2009

Language:

english

File:

PDF, 442 KB

english, 2009

12

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

Strom, Charles M, Janeczko, Richard A, Anderson, Ben, Redman, Joy, Quan, Franklin, Buller, Arlene, McGinniss, Matthew J, Sun, Wei Min

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 218 KB

english, 2005

13

Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

McGinniss, Matthew J., Chen, Rebecca, Pratt, Victoria M., Buller, Arlene, Quan, Franklin, Strom, Charles M., Sun, Weimin, Crossley, Beryl

Journal:

The Journal of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 416 KB

english, 2007

14

Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

Matthew J. McGinniss, Haig H. Kazazian Jr., Leon W. Hoyer, Lei Bi, Hiroshi Inaba, Stylianos E. Antonarakis

Journal:

Year:

1993

File:

PDF, 470 KB

1993

15

357 Serum Immune Responses to Anti-CBIR1 Flagellin (CBIR1) Correlates with HLA DQA105-DQB10201 (DQ2.5) and DQA103-DQB10302 (DQ8) in a Large Group of U.S. Patients At-Risk for Celiac Disease (N=5406) Who Are Ema Positive

Michelle M. Pietzak, Derren M. Barken, Timothy C. Schofield, Matthew J. McGinniss

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

16

Partial Molar Transformation of the Placenta of Presumably Monozygotic Twins

Kurt Benirschke, John C. Spinosa, Matthew J. McGinniss, Alberto Marchevsky, John Sanchez

Journal:

Pediatric and Developmental Pathology

Year:

2000

Language:

english

File:

PDF, 978 KB

english, 2000

17

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

Sun, Weimin, Anderson, Ben, Redman, Joy, Milunsky, Aubrey, Buller, Arlene, McGinniss, Matthew J, Quan, Franklin, Anguiano, Arturo, Huang, Stephen, Hantash, Feras, Strom, Charles

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 1.46 MB

english, 2006

18

Impact of Mutation Variant Allele Frequency on Phenotype, Outcomes, and Patient Management in Myelodysplastic Syndromes

Sallman, David, Komrokji, Rami, Vaupel, Christine, Cluzeau, Thomas, McGraw, Kathy L., Al Ali, Najla H., Lancet, Jeffrey, McGinniss, Matthew J., Nahas, Shareef, Smith, Alexandar E., Kulasekararaj, Aust

Journal:

Clinical Lymphoma Myeloma and Leukemia

Year:

2015

Language:

english

File:

PDF, 89 KB

english, 2015

19

Technology challenges in screening single gene disorders

Andreas Braun, Richard Roth, Matthew J. McGinniss

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 253 KB

english, 2003

20

Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method

Kosaki, Kenjiro, McGinniss, Matthew J., Veraksa, Alexey N., McGinnis, William J., Jones, Kenneth Lyons

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 176 KB

english, 1997

21

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test

David H. Brown, Barbara L. Triggs-Raine, Matthew J. McGinniss, Michael M. Kaback

Journal:

Year:

1995

Language:

english

File:

PDF, 251 KB

english, 1995

22

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

Hantash, Feras M., Redman, Joy B., Goos, Dana, Kammesheidt, Anja, McGinniss, Matthew J., Sun, Weimin, Strom, Charles M.

Journal:

The Journal of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

23

Molecular Diagnostics || Quality Control, Assurance, Identification, and Standards

McGinniss, Matthew J.

Year:

2010

Language:

english

File:

PDF, 233 KB

english, 2010

24

Molecular analyses of in vivo hprt mutations in human t-lymphocytes: IV. Studies in Newborns

Matthew J. McGinniss, Janice A. Nicklas, Dr. Richard J. Albertini

Journal:

Environmental and Molecular Mutagenesis

Year:

1989

Language:

english

File:

PDF, 1.06 MB

english, 1989

25

AQUATIC ORGANISMS RESPONSE TO SEVERE STRESS FOLLOWING ACUTELY SUBLETHAL TOXICANT EXPOSURE

John Cairns Jr., William Ford Calhoun, Matthew J. McGinniss, William Strakd

Journal:

JAWRA Journal of the American Water Resources Association

Year:

1976

Language:

english

File:

PDF, 529 KB

english, 1976

26

Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results

Brown, Nicholas M, Pratt, Victoria M, Buller, Arlene, Pike-Buchanan, Lisa, Redman, Joy B, Sun, Weimin, Chen, Rebecca, Crossley, Beryl, McGinniss, Matthew J, Quan, Franklin, Strom, Charles M

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 598 KB

english, 2005

27

M1086 Prediction of Inflammatory Bowel Disease (IBD) Using Serological Testing: A Retrospective Study of Serologic Marker and Diagnostic Prediction Consistency in Repeated Test Results

Barken, Derren M., McGinniss, Matthew J., Nakamura, Robert M., Pan, Henry

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

28

Identification of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi

Bender, Ryan P, McGinniss, Matthew J, Esmay, Paula, Velazquez, Elsa F, Reimann, Julie DR

Journal:

Modern Pathology

Year:

2013

Language:

english

File:

PDF, 276 KB

english, 2013

29

Partial Molar Transformation of the Placenta of Presumably Monozygotic Twins

Kurt Benirschke, John C. Spinosa, Matthew J. McGinniss, Alberto Marchevsky, John Sanchez

Journal:

Pediatric and Developmental Pathology

Year:

2000

Language:

english

File:

PDF, 978 KB

english, 2000

30

Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28

Barbara R. Migeon, Matthew J. McGinniss, Stylianos E. Antonarakis, Joyce Axelman, Beth A. Stasiowski, Hagop Youssoufian, William G. Kearns, Alice Chung, Peter L. Pearson, Haig H. Kazazian Jr., Razia S

Journal:

Year:

1993

File:

PDF, 443 KB

1993

31

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics || Carrier Screening and Heterozygote Testing

McGinniss, Matthew J.

Year:

2019

Language:

english

File:

PDF, 440 KB

english, 2019

32

Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel

Strom, Charles M., Janeszco, Richard, Quan, Franklin, Wang, Sheng-biao, Buller, Arlene, McGinniss, Matthew, Sun, Weimin

Journal:

The Journal of Molecular Diagnostics

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

33

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Maddalena, Anne, Richards, Carolyn Sue, McGinniss, Matthew J, Brothman, Arthur, Desnick, Robert J, Grier, Robert E, Hirsch, Betsy, Jacky, Peter, McDowell, Geraldine A, Popovich, Bradley, Watson, Micha

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 1.35 MB

english, 2001

34

Novel and recurrent rearrangements in theCFTRgene: clinical and laboratory implications for cystic fibrosis screening

Feras M. Hantash, Joy B. Redman, Kelsey Starn, Ben Anderson, Arlene Buller, Matthew J. McGinniss, Franklin Quan, Mei Peng, Weimin Sun, Charles M. Strom

Journal:

Year:

2006

Language:

english

File:

PDF, 584 KB

english, 2006

35

Novel and recurrent rearrangements in theCFTRgene: clinical and laboratory implications for cystic fibrosis screening

Feras M. Hantash, Joy B. Redman, Kelsey Starn, Ben Anderson, Arlene Buller, Matthew J. McGinniss, Franklin Quan, Mei Peng, Weimin Sun, Charles M. Strom

Journal:

Year:

2006

Language:

english

File:

PDF, 106 KB

english, 2006

36

Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2

Cutting, Garry R., McGinniss, Matthew J., Kasch, Laura M., Tsipouras, Petros, Antonarakis, Stylianos E.

Journal:

Year:

1990

Language:

english

File:

PDF, 1.15 MB

english, 1990

37

Molecular Characterization of Severe Hemophilia A Suggests that about Half the Mutations are not within the Coding Regions and Splice Junctions of the Factor VIII Gene

Miyoko Higuchi, Haig H. Kazazian Jr., Laura Kasch, Tina C. Warren, Matthew J. McGinniss, John A. Phillips III, Carol Kasper, Robert Janco and Stylianos E. Antonarakis

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 981 KB

english, 1991

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