Mcgowan-Jordan, Jean: search on Z-Library

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1

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype

Linlea Armstrong, Jean McGowan-Jordan, Kathleen Brierley, Judith E. Allanson

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 170 KB

english, 2003

2

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan-Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Hi

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 596 KB

english, 2016

3

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism

Walla Al-Hertani, Jean McGowan-Jordan, Judith E. Allanson

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 99 KB

english, 2012

4

Use of multicolor fluorescence in situ hybridization to detect deletions in clinical tissue sections

Yoshimoto, Maisa, Ludkovski, Olga, Good, Jennifer, Pereira, Ciro, Gooding, Robert J., McGowan-Jordan, Jean, Boag, Alexander, Evans, Andrew, Tsao, Ming-Sound, Nuin, Paulo, Squire, Jeremy A.

Journal:

Laboratory Investigation

Year:

2018

Language:

english

File:

PDF, 4.29 MB

english, 2018

5

Hydroperoxidase I catalyzes peroxidative activation of 3,3′-dichlorobenzidine to a mutagen in Salmonella typhimurium

I.Jean McGowan-Jordan, P.David Josephy

Journal:

Archives of Biochemistry and Biophysics

Year:

1990

Language:

english

File:

PDF, 1.57 MB

english, 1990

6

MDS with isolated del(5q) and internuclear bridging

Xu, Zhaodong, McGowan-Jordan, Jean

Journal:

Year:

2017

Language:

english

File:

PDF, 742 KB

english, 2017

7

A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion

Lacaria, Melanie, El Demellawy, Dina, McGowan-Jordan, Jean

Journal:

Cancer Genetics

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

8

The detection of chromosome anomalies by QF-PCR and residual risks as compared to G-banded analysis

Marsha D. Speevak, Jean McGowan-Jordan, Kathy Chun

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

9

Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation

McGowan-Jordan, Jean, Stoddard, Karen, Podolsky, Luba, Orrbine, Elaine, McLaine, Peter, Town, Margaret, Goodyer, Paul, MacKenzie, Alex, Heick, Hans

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 488 KB

english, 1999

10

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter

Journal:

Year:

2016

Language:

english

File:

PDF, 182 KB

english, 2016

11

Correction to: Use of multicolor fluorescence in situ hybridization to detect deletions in clinical tissue sections

Yoshimoto, Maisa, Ludkovski, Olga, Good, Jennifer, Pereira, Ciro, Gooding, Robert J., McGowan-Jordan, Jean, Boag, Alexander, Evans, Andrew, Tsao, Ming-Sound, Nuin, Paulo, Squire, Jeremy A.

Journal:

Laboratory Investigation

Year:

2018

Language:

english

File:

PDF, 452 KB

english, 2018

12

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

Bob Argiropoulos, Melissa Carter, Kathy Brierley, Heather Hare, Amélie Bouchard, Walla Al-Hertani, Shannon R. Ryan, Judith Reid, Mark Basik, Jean McGowan-Jordan, Gail E. Graham

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.60 MB

english, 2011

13

A patient with de-novo partial deletion of Xp (p11.4–pter) and partial duplication of 22q (q11.2–qter)

Armour, Christine M., McGowan-Jordan, Jean, Lawrence, Sarah E., Bouchard, Amélie, Basik, Mark, Allanson, Judith E.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

14

HLA-DRnegative, CD34negative Hypergranular Acute Myeloid Leukemia With Trisomy 6 and del(5)(q22q33)

Argiropoulos, Bob, Clifford, Brian, Crocker, Susan, Sinclair-Bourque, Elizabeth, McCready, Elizabeth, McGowan-Jordan, Jean, Johnston, Donna L., Padmore, Ruth

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2011

Language:

english

File:

PDF, 237 KB

english, 2011

15

Update on molecular findings in rhabdomyosarcoma

El Demellawy, Dina, McGowan-Jordan, Jean, de Nanassy, Joseph, Chernetsova, Elizaveta, Nasr, Ahmed

Journal:

Year:

2017

Language:

english

File:

PDF, 2.75 MB

english, 2017

16

Prenatal cytogenetic assessment and inv(2)(p11.2q13)

Meaghan Hysert, Hélène Bruyère, Gilbert B. Côté, Angelika J. Dawson, Jo-Anna Dolling, Raouf Fetni, Monica Hrynchak, Josée Lavoie, Jean McGowan-Jordan, Frédérique Tihy, Alessandra M. V. Duncan

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

17

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree

Christina Honeywell, Bob Argiropoulos, Stuart Douglas, Andrea L. Blumenthal, Judith Allanson, Jean McGowan-Jordan, M. Elizabeth McCready

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 417 KB

english, 2012

18

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

Chisholm, Caitlin, Daoud, Hussein, Ghani, Mahdi, Mettler, Gabrielle, McGowan-Jordan, Jean, Sinclair-Bourque, Liz, Smith, Amanda, Jarinova, Olga

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

19

Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings

El Demellawy, Dina, Lee, James YJ, McDonell, Laura, Dyment, David A, Knisely, AS, McGowan-Jordan, Jean, Ngan, Bo, Finegold, Milton, Kapur, Raj P, Nasr, Ahmed

Journal:

Pediatric and Developmental Pathology

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

20

Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

Susan Zeesman, Donald T. Whelan, Nancy Carson, Jean McGowan-Jordan, Tracy L. Stockley, Peter N. Ray, Thomas W. Prior

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 71 KB

english, 2002

21

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Yu, Andrea C., Zambrano, Regina M., Cristian, Ingrid, Price, Sue, Bernhard, Birgitta, Zucker, Marc, Venkateswaran, Sunita, McGowan-Jordan, Jean, Armour, Christine M.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 574 KB

english, 2017

22

Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory

Nfonsam, Landry, Ordorica, Shelley, Ghani, Mahdi, Potter, Ryan, Schaffer, Audrey, Daoud, Hussein, Vasli, Nasim, Chisholm, Caitlin, Sinclair-Bourque, Elizabeth, McGowan-Jordan, Jean, Smith, Amanda C, J

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.38 MB

english, 2018

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