Mark Pertile: search on Z-Library

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1

Bilateral Congenital Adrenal Agenesis: A Rare Disease Entity and Not a Result of Poor Autopsy Technique

D'Arcy, Colleen, Pertile, Mark, Goodwin, Tess, Bittinger, Sophie

Journal:

Pediatric and Developmental Pathology

Year:

2014

Language:

english

File:

PDF, 2.95 MB

english, 2014

2

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Flowers, Nicola Jane, Burgess, Trent, Giouzeppos, Olivia, Shi, Grace, Love, Clare Jane, Hunt, Clare Elizabeth, Scarff, Katrina Louise, Archibald, Alison Dalton, Pertile, Mark Domenic

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 1.09 MB

2020

3

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy

Damien L. Bruno, Trent Burgess, Hua Ren, Sara Nouri, Mark D. Pertile, David I. Francis, Fiona Norris, Bronwyn K. Kenney, Jan Schouten, K.H. Andy Choo, Howard R. Slater

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 293 KB

english, 2006

4

Removal of Contrast Media From the Coronary Sinus Attenuates Renal Injury After Coronary Angiography and Intervention

Stephen J. Duffy, Peter Ruygrok, Craig P. Juergens, Horst Sievert, Mark Richards, James Blake, Robert Whitbourn, H. Omar Farouque, Terence Pertile, David M. Kaye

Journal:

Journal of the American College of Cardiology

Year:

2010

Language:

english

File:

PDF, 214 KB

english, 2010

5

Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening

Cohen, Paul A., Flowers, Nicola, Tong, Stephen, Hannan, Natalie, Pertile, Mark D., Hui, Lisa

Journal:

Year:

2016

Language:

english

File:

PDF, 766 KB

english, 2016

6

International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies

Palomaki, Glenn E., Chiu, Rossa W.K., Pertile, Mark D., Sistermans, Erik A., Yaron, Yuval, Vermeesch, Joris Robert, Vora, Neeta L., Best, Robert G., WilkinsâHaug, Louise

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 1.13 MB

2020

7

Monozygotic twins with discordant karyotypes: a case report

Colm P.F. O'Donnell, Mark D. Pertile, Leslie J. Sheffield, Amanda Sampson

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 182 KB

english, 2004

8

First trimester detection of trisomy 16 using combined biochemical and ultrasound screening

Spencer, Kevin, Pertile, Mark D., Bonacquisto, Leonard, Mills, Ian, Turner, Steve, Donalson, Kim, Jónsson, Jón Jóhannes

Journal:

Prenatal Diagnosis

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

9

Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy

Hui, Lisa, Pertile, Mark, Tassone, Meredith, Bruno, Damien

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

10

Harmonizing cell-free DNA Collection and Processing Practices through Evidence-based Guidance

Greytak, Sarah R., Engel, Kelly B., Parpart-Li, Sonya, Murtaza, Muhammed, Bronkhorst, Abel J, Pertile, Mark D, Moore, Helen M

Journal:

Clinical Cancer Research

Year:

2020

File:

PDF, 936 KB

2020

11

Ectopic Bone Formation by Mesenchymal Stem Cells Derived from Human Term Placenta and the Decidua

Kusuma, Gina D., Menicanin, Danijela, Gronthos, Stan, Manuelpillai, Ursula, Abumaree, Mohamed H., Pertile, Mark D., Brennecke, Shaun P., Kalionis, Bill, Matsusaki, Michiya

Journal:

Year:

2015

Language:

english

File:

PDF, 3.03 MB

english, 2015

12

Questionable pathogenicity of FOXG1 duplication

Amor, David J, Burgess, Trent, Tan, Tiong Y, Pertile, Mark D

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 188 KB

english, 2012

13

Is chorionic villus sampling as reliable as amniocentesis?

Pertile, Mark D., Ryan, Jacinta T.

Journal:

Year:

1992

Language:

english

File:

PDF, 256 KB

english, 1992

14

Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds

Jo Perry, Sue M. White, Sara Nouri, Sharon M. Bain, Rhonda G. Hutchinson, Phung La, Emma Northrop, Helen J. Eyre, Mark D. Pertile, Trudy A. Hocking, Elizabeth M. Thompson, Sui Yu, K.H. Andy Choo, Howa

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

15

REMOVAL OF CONTRAST MEDIA FROM THE CORONARY SINUS ATTENUATES RENAL INJURY AFTER CORONARY ANGIOGRAPHY AND INTERVENTION

Kaye, David M., Ruygrok, Peter, Juergens, Craig, Sievert, Horst, Richards, Mark, Blake, James, Whitbourn, Robert, Farouque, Omar, Pertile, Terry, Duffy, Stephen

Journal:

Journal of the American College of Cardiology

Year:

2010

Language:

english

File:

PDF, 72 KB

english, 2010

16

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

Martin B. Delatycki, Mark D. Pertile, R. J. McKinlay Gardner

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 39 KB

english, 1998

17

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Burgess, Trent, Downie, Lilian, Pertile, Mark D., Francis, David, Glass, Melissa, Nouri, Sara, Pszczola, Rosalynn

Journal:

Case Reports in Genetics

Year:

2014

Language:

english

File:

PDF, 1.26 MB

english, 2014

18

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism

David J. Amor, Wee Thong Neo, Elizabeth Waters, Helen Heussler, Mark Pertile, Jane Halliday

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

19

Mesenchymal Stem/Stromal Cells Derived From a Reproductive Tissue Niche Under Oxidative Stress Have High Aldehyde Dehydrogenase Activity

Kusuma, Gina D., Abumaree, Mohamed H., Pertile, Mark D., Perkins, Anthony V., Brennecke, Shaun P., Kalionis, Bill

Journal:

Stem Cell Reviews and Reports

Year:

2016

Language:

english

File:

PDF, 2.20 MB

english, 2016

20

De novo complex chromosomal rearrangement in a male ascertained through recurrent miscarriages

Fowler, Deborah L., Butler, Kathy R., Pertile, Mark D.

Journal:

Year:

1992

Language:

english

File:

PDF, 300 KB

english, 1992

21

Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound

Art Daniel, Neil Athayde, Robert Ogle, Alice M. George, Jonathan Michael, Mark d Pertile, Jennifer Bryan, Vapinder Jammu, Brian J. Trudinger

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

22

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort

Hui, Lisa, Poulton, Alice, Kluckow, Eliza, Lindquist, Anthea, Hutchinson, Briohny, Pertile, Mark D, Bonacquisto, Leonard, Gugasyan, Lucy, Kulkarni, Abhijit, Harraway, James, Howden, Amanda, McCoy, Ric

Journal:

Human Reproduction

Year:

2020

Language:

english

File:

PDF, 730 KB

english, 2020

23

Mitochondrial Respiration Chain Enzymatic Activities in the Human Brain: Methodological Implications for Tissue Sampling and Storage

Ronsoni, Marcelo Fernando, Remor, Aline Pertile, Lopes, Mark William, Hohl, Alexandre, Troncoso, Iris H. Z., Leal, Rodrigo Bainy, Boos, Gustavo Luchi, Kondageski, Charles, Nunes, Jean Costa, Linhares,

Journal:

Neurochemical Research

Year:

2016

Language:

english

File:

PDF, 408 KB

english, 2016

24

A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin

Kan, Anita Sik Yau, Lau, Elizabeth Tak Kwong, So, Chun Hong, Chan, Wan Pang, Wong, Wing Cheuk, Lee, Kam Cheong, Pertile, Mark D., Tang, Mary Hoi Yin

Journal:

Journal of Obstetrics and Gynaecology Research

Year:

2018

Language:

english

File:

PDF, 1.37 MB

english, 2018

25

Exceptional Complex Chromosomal Rearrangements in Three Generations

Kartapradja, Hannie, Marzuki, Nanis Sacharina, Pertile, Mark D., Francis, David, Suciati, Lita Putri, Anggaratri, Helena Woro, Ambarwati, Debby Dwi, Idris, Firman Prathama, Lesmana, Harry, Trimarsanto

Journal:

Case Reports in Genetics

Year:

2015

Language:

english

File:

PDF, 2.09 MB

english, 2015

26

Presymptomatic detection of metastatic breast cancer using Non-Invasive Prenatal Testing (NIPT)

Flowers, Nicola, Giouzeppos, Olivia, Shi, Grace, Love, Clare, Archibald, Alison, McGillivray, George, Dow, Eryn, Christodoulou, John, Wall, Meg, Lunke, Sebastian, Bruno, Damien, Pertile, Mark D.

Journal:

Year:

2020

Language:

english

File:

PDF, 49 KB

english, 2020

27

Enhancement of DNA vaccine potency by electroporation in vivo

Mark Selby, Cheryl Goldbeck, Terry Pertile, Robert Walsh, Jeffrey Ulmer

Journal:

Journal of Biotechnology

Year:

2000

Language:

english

File:

PDF, 147 KB

english, 2000

28

Genome-wide cell-free DNA based non-invasive prenatal testing identifies trisomy 14 mosaicism in association with uniparental disomy

Phelan, Dean G., Flowers, Nicola, Giouzeppos, Olivia, Lall, Paula, Casey, Ellen, Houben, Leonie, McCleery, Mara, Pertile, Mark D.

Journal:

Year:

2020

Language:

english

File:

PDF, 49 KB

english, 2020

29

An implantable carotid sinus stimulator for drug-resistant hypertension: Surgical technique and short-term outcome from the multicenter phase II Rheos feasibility trial

Illig, Karl A., Levy, Mark, Sanchez, Luis, Trachiotis, Gregory D., Shanley, Charles, Irwin, Eric, Pertile, Terry, Kieval, Robert, Cody, Robert

Journal:

Journal of Vascular Surgery

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

30

Non-invasive prenatal testing (NIPT) is more sensitive than CVS for identifying rare trisomy and trisomy mosaicism

Flowers, Nicola, Giouzeppos, Olivia, Cronin, Sara, Shi, Grace, Francis, David, Bruno, Damien, Pertile, Mark

Journal:

Year:

2016

Language:

english

File:

PDF, 41 KB

english, 2016

31

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

Pertile, Mark D., Halks-Miller, Meredith, Flowers, Nicola, Barbacioru, Catalin, Kinnings, Sarah L., Vavrek, Darcy, Seltzer, William K., Bianchi, Diana W.

Journal:

Science Translational Medicine

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

32

Establishment and characterization of fetal and maternal mesenchymal stem/stromal cell lines from the human term placenta

Qin, Sharon Q., Kusuma, Gina D., Al-Sowayan, Batla, Pace, Rishika A., Isenmann, Sandra, Pertile, Mark D., Gronthos, Stan, Abumaree, Mohamed H., Brennecke, Shaun P., Kalionis, Bill

Journal:

Year:

2016

Language:

english

File:

PDF, 2.50 MB

english, 2016

33

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

Flowers, Nicola, Kelley, Joanne, Sigurjonsson, Styrmir, Bruno, Damien L., Pertile, Mark D.

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 632 KB

english, 2015

34

Mitochondrial respiratory chain complex enzyme activities of limbic structures and psychiatric diagnosis in temporal lobe epilepsy patients: Preliminary results

Osório, Camila Moreira, Lin, Kátia, Guarnieri, Ricardo, de Oliveira Thais, Maria Emília Rodrigues, Dresch Vascouto, Helena, Remor, Aline Pertile, Lopes, Mark William, Linhares, Marcelo Neves, Ben, Jul

Journal:

CNS Neuroscience & Therapeutics

Year:

2017

Language:

english

File:

PDF, 259 KB

english, 2017

35

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Sistermans, Erik A., Van Opstal, Diane, Bekker, Mireille N., Pertile, Mark D.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 238 KB

english, 2019

36

PRENATAL DIAGNOSIS OF PRADER–WILLI SYNDROME USING PW71 METHYLATION ANALYSIS—UNIPARENTAL DISOMY AND THE SIGNIFICANCE OF RESIDUAL TRISOMY 15

HOWARD R. SLATER, CATHRYN VAUX, MARK PERTILE, TRENT BURGESS, VIDA PETROVIC

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 346 KB

english, 1997

37

Haplotyping the human leukocyte antigen system from single chromosomes

Murphy, Nicholas M., Burton, Matthew, Powell, David R., Rossello, Fernando J., Cooper, Don, Chopra, Abha, Hsieh, Ming Je, Sayer, David C., Gordon, Lavinia, Pertile, Mark D, Tait, Brian D., Irving, Hel

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.59 MB

english, 2016

38

Noninvasive Prenatal Testing (NIPT) || Genome-Wide Cell-Free DNA-Based Prenatal Testing for Rare Autosomal Trisomies and Subchromosomal Abnormalities

Pertile, Mark D.

Year:

2018

Language:

english

File:

PDF, 918 KB

english, 2018

39

Neuropsychological functioning and brain energetics of drug resistant mesial temporal lobe epilepsy patients

Osório, Camila Moreira, Latini, Alexandra, Leal, Rodrigo Bainy, de Oliveira Thais, Maria Emília Rodrigues, Vascouto, Helena Dresch, Remor, Aline Pertile, Lopes, Mark William, Linhares, Marcelo Neves,

Journal:

Epilepsy Research

Year:

2017

Language:

english

File:

PDF, 201 KB

english, 2017

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